1. N-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
2. UDP-GlcNAc
3. UDP-N-acetyl-D-glucosamine
4. UDP-N-acetyl-glucosamine
5. UDP-N-acetylglucosamine
6. UDP-a-D-N-acetylglucosamine
7. UDP-acetyl-D-glucosamine
8. UDP-acetylglucosamine
9. UPPAG
10. Uridine 5'-diphospho-N-acetylglucosamine
11. Uridine diphosphate N-acetyl-D-glucosamine
12. Uridine diphosphate N-acetylglucosamine
13. Uridine diphospho-2-acetamido-2-deoxy-D-glucose
14. Uridine diphospho-N-acetyl-D-glucosamine
15. Uridine diphospho-N-acetylglucosamine
16. Uridine pyrophosphate 2-acetamido-2-deoxy-a-D-glucopyranosyl ester
17. Uridine pyrophosphoacetylglucosamine
18. [[3-acetylamino-4,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-hydroxy-phosphoryl]oxy-[[5-(2,4-dioxopyrimidin-1-yl)-3,4-dihydroxy-oxolan-2-yl]methoxy]phosphinate
19. [[3-acetylamino-4,5-dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-hydroxy-phosphoryl]oxy-[[5-(2,4-dioxopyrimidin-1-yl)-3,4-dihydroxy-oxolan-2-yl]methoxy]phosphinic acid
20. uridine diphosphoacetylglucosamine
21. Uridine 5'-Diphospho-N-Acetlyglucosamine
22. UDP-N-acetyl-delta-glucosamine
23. UDP-alpha-delta-N-acetylglucosamine
24. UDP-acetyl-delta-glucosamine
25. Uridine diphosphate N-acetyl-delta-glucosamine
26. Uridine diphospho-2-acetamido-2-deoxy-delta-glucose
27. Uridine diphospho-N-acetyl-delta-glucosamine
28. Uridine pyrophosphate 2-acetamido-2-deoxy-alpha-delta-glucopyranosyl ester
29. UDP-alpha-D-N-acetylglucosamine
30. Uridine pyrophosphate 2-acetamido-2-deoxy-alpha-D-glucopyranosyl ester

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• Cytoplasm (Predicted from LogP)
• golgi apparatus

1. Kobayashi T, Sleeman JE, Coughtrie MW, Burchell B: Molecular and functional characterization of microsomal UDP-glucuronic acid uptake by members of the nucleotide sugar transporter (NST) family. Biochem J. 2006 Dec 1;400(2):281-9. [PubMed ]
2. Kim CH: Increased expression of N-acetylglucosaminyltransferase-V in human hepatoma cells by retinoic acid and 1alpha,25-dihydroxyvitamin D3. Int J Biochem Cell Biol. 2004 Nov;36(11):2307-19. [PubMed ]
3. Jamieson JC, Kaplan HA, Woloski BM, Hellman M, Ham K: Glycoprotein biosynthesis during the acute-phase response to inflammation. Can J Biochem Cell Biol. 1983 Sep;61(9):1041-8. [PubMed ]
4. Wikipedia

1. Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
2. Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
3. UDP-N-acetylhexosamine pyrophosphorylase
4. UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
5. Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
6. Exostosin-1
7. Hyaluronan synthase 1
8. Exostosin-like 3
9. Exostosin-2
10. Exostosin-like 1
11. N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
12. Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A
13. Hyaluronan synthase 3
14. Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase
15. Hyaluronan synthase 2
16. N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform B
17. UDP-N-acetylglucosamine transporter
18. Beta-1,3-N-acetylglucosaminyltransferase bGnT-2
19. Exostosin-like 2
20. Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A
21. Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B
22. UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
23. N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
24. cDNA FLJ75238, highly similar to Homo sapiens asparagine-linked glycosylation 14 homolog (yeast) (ALG14), mRNA (Asparagine-linked glycosylation 14 homolog (Yeast), isoform CRA_b)
25. HCG2018639
26. Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase, isoform CRA_a
27. cDNA, FLJ93080, highly similar to Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA (UDP-N-acteylglucosamine pyrophosphorylase 1, isoform CRA_a)
28. Glycosyltransferase 28 domain containing 1, isoform CRA_b
29. cDNA FLJ31605 fis, clone NT2RI2002729, highly similar to Alpha-1,6-mannosyl-glycoprotein2-beta-N- acetylglucosaminyltransferase (Mannosyl (Alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase)
30. cDNA, FLJ93340, Homo sapiens exostoses (multiple)-like 2 (EXTL2), mRNA (Exostoses (Multiple)-like 2, isoform CRA_a)
31. cDNA, FLJ93616, highly similar to Homo sapiens exostoses (multiple) 1 (EXT1), mRNA (Exostoses (Multiple) 1)
32. UDP-N-acetylglucosamine transferase subunit ALG13 homolog

1. UDP-GlcNAc-2-epimerase/ManAc kinase
2. UDP-N-acetylglucosamine 2-epimerase
3. UDP-GlcNAc-2-epimerase
4. Uridine diphosphate-N-acetylglucosamine-2-epimerase
5. N-acetylmannosamine kinase
6. ManAc kinase

MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSHLIDDYGNTYRM
IEQDDFDINTRLHTIVRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALA
TSAALMNIRILHIEGGEVSGTIDDSIRHAITKLAHYHVCCTRSAEQHLISMCEDHDRILL
AGCPSYDKLLSAKNKDYMSIIRMWLGDDVKSKDYIVALQHPVTTDIKHSIKMFELTLDAL
ISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNFRAVKHVPFDQFIQLVAHAGCMIGN
SSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQFGKQYPCSKI
YGDGNAVPRILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLR
VAIVSMKGEIVKKYTQFNPKTYEERINLILQMCVEAAAEAVKLNCRILGVGISTGGRVNP
REGIVLHSTKLIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAERKFGQGKGLENFVTL
ITGTGIGGGIIHQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREA
KKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTM
NPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRR
IY

• Aminosugars metabolism (map00530 )

• UDP-N-acetyl-D-glucosamine = UDP-N-acetyl-D-mannosamine [RN:R00420]

• Epimerase_2 (PF02350 )
• ROK (PF00480 )

• None

• None

ATGGAGAAGAATGGAAATAACCGAAAGCTGCGGGTTTGTGTTGCTACTTGTAACCGTGCA
GATTATTCTAAACTTGCCCCGATCATGTTTGGCATTAAAACCGAACCTGAGTTCTTTGAA
CTTGATGTTGTGGTACTTGGCTCTCACCTGATAGATGACTATGGAAATACATATCGAATG
ATTGAACAAGATGACTTTGACATTAACACCAGGCTACACACAATTGTGAGGGGAGAAGAT
GAGGCAGCCATGGTGGAGTCAGTAGGCCTGGCCCTAGTGAAGCTGCCAGATGTCCTTAAT
CGCCTGAAGCCTGATATCATGATTGTTCATGGAGACAGGTTTGATGCCCTGGCTCTGGCC
ACATCTGCTGCCTTGATGAACATCCGAATCCTTCACATTGAAGGTGGGGAAGTCAGTGGG
ACCATTGATGACTCTATCAGACATGCCATAACAAAACTGGCTCATTATCATGTGTGCTGC
ACCCGCAGTGCAGAGCAGCACCTGATATCCATGTGTGAGGACCATGATCGCATCCTTTTG
GCAGGCTGCCCTTCCTATGACAAACTTCTCTCAGCCAAGAACAAAGACTACATGAGCATC
ATTCGCATGTGGCTAGGTGATGATGTAAAATCTAAAGATTACATTGTTGCACTACAGCAC
CCTGTGACCACTGACATTAAGCATTCCATAAAAATGTTTGAATTAACATTGGATGCACTT
ATCTCATTTAACAAGCGGACCCTAGTCCTGTTTCCAAATATTGACGCAGGGAGCAAAGAG
ATGGTTCGAGTGATGCGGAAGAAGGGCATTGAGCATCATCCCAACTTTCGTGCAGTTAAA
CACGTCCCATTTGACCAGTTTATACAGTTGGTTGCCCATGCTGGCTGTATGATTGGGAAC
AGCAGCTGTGGGGTTCGAGAAGTTGGAGCTTTTGGAACACCTGTGATCAACCTGGGAACA
CGTCAGATTGGAAGAGAAACAGGGGAGAATGTTCTTCATGTCCGGGATGCTGACACCCAA
GACAAAATATTGCAAGCACTGCACCTTCAGTTTGGTAAACAGTACCCTTGTTCAAAGATA
TATGGGGATGGAAATGCTGTTCCAAGGATTTTGAAGTTTCTCAAATCTATCGATCTTCAA
GAGCCACTGCAAAAGAAATTCTGCTTTCCTCCTGTGAAGGAGAATATCTCTCAAGATATT
GACCATATTCTTGAAACTCTAAGTGCCTTGGCCGTTGATCTTGGCGGGACGAACCTCCGA
GTTGCAATAGTCAGCATGAAGGGTGAAATAGTTAAGAAGTATACTCAGTTCAATCCTAAA
ACCTATGAAGAGAGGATTAATTTAATCCTACAGATGTGTGTGGAAGCTGCAGCAGAAGCT
GTAAAACTGAACTGCAGAATTTTGGGAGTAGGCATTTCCACAGGTGGCCGTGTAAATCCT
CGGGAAGGAATTGTGCTGCATTCAACCAAACTGATCCAAGAGTGGAACTCTGTGGACCTT
AGGACCCCCCTTTCTGACACTTTGCATCTCCCTGTGTGGGTAGACAATGATGGCAACTGT
GCTGCCCTGGCGGAAAGGAAATTTGGCCAAGGAAAGGGACTGGAAAACTTTGTTACACTT
ATCACAGGCACAGGAATCGGTGGTGGAATTATCCATCAGCATGAATTGATCCACGGAAGC
TCCTTCTGTGCTGCAGAACTGGGCCACCTTGTTGTGTCTCTGGATGGGCCTGATTGTTCC
TGTGGAAGCCATGGGTGCATTGAAGCATACGCCTCTGGAATGGCCTTGCAGAGGGAGGCA
AAAAAGCTCCATGATGAGGACCTGCTCTTGGTGGAAGGGATGTCAGTGCCAAAAGATGAG
GCTGTGGGTGCGCTCCATCTCATCCAAGCTGCGAAACTTGGCAATGCGAAGGCCCAGAGC
ATCCTAAGAACAGCTGGAACAGCTTTGGGTCTTGGGGTTGTGAACATCCTCCATACCATG
AATCCCTCCCTTGTGATCCTCTCCGGAGTCCTGGCCAGTCACTATATCCACATTGTCAAA
GACGTCATTCGCCAGCAGGCCTTGTCCTCCGTGCAGGACGTGGATGTGGTGGTTTCGGAT
TTGGTTGACCCCGCCCTGCTGGGTGCTGCCAGCATGGTTCTGGACTACACAACACGCAGG
ATCTACTAG

1. Lucka L, Krause M, Danker K, Reutter W, Horstkorte R: Primary structure and expression analysis of human UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase, the bifunctional enzyme in neuraminic acid biosynthesis. FEBS Lett. 1999 Jul 9;454(3):341-4. [PubMed ]
2. Seppala R, Lehto VP, Gahl WA: Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. Am J Hum Genet. 1999 Jun;64(6):1563-9. [PubMed ]
3. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
4. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. [PubMed ]
5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
6. Weiss P, Tietze F, Gahl WA, Seppala R, Ashwell G: Identification of the metabolic defect in sialuria. J Biol Chem. 1989 Oct 25;264(30):17635-6. [PubMed ]
7. Keppler OT, Hinderlich S, Langner J, Schwartz-Albiez R, Reutter W, Pawlita M: UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation. Science. 1999 May 21;284(5418):1372-6. [PubMed ]
8. Ferreira H, Seppala R, Pinto R, Huizing M, Martins E, Braga AC, Gomes L, Krasnewich DM, Sa Miranda MC, Gahl WA: Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. Mol Genet Metab. 1999 Jun;67(2):131-7. [PubMed ]
9. Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA: Dominant inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet. 2001 Jun;68(6):1419-27. Epub 2001 Apr 18. [PubMed ]
10. Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S: The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7. [PubMed ]
11. Arai A, Tanaka K, Ikeuchi T, Igarashi S, Kobayashi H, Asaka T, Date H, Saito M, Tanaka H, Kawasaki S, Uyama E, Mizusawa H, Fukuhara N, Tsuji S: A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. Ann Neurol. 2002 Oct;52(4):516-9. [PubMed ]
12. Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T: Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet. 2002;47(2):77-9. [PubMed ]
13. Darvish D, Vahedifar P, Huo Y: Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). Mol Genet Metab. 2002 Nov;77(3):252-6. [PubMed ]
14. Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H: Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. Neurology. 2002 Aug 13;59(3):451-4. [PubMed ]
15. Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I: Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology. 2002 Dec 10;59(11):1689-93. [PubMed ]
16. Vasconcelos OM, Raju R, Dalakas MC: GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. Neurology. 2002 Dec 10;59(11):1776-9. [PubMed ]
17. Broccolini A, Pescatori M, D'Amico A, Sabino A, Silvestri G, Ricci E, Servidei S, Tonali PA, Mirabella M: An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. Neurology. 2002 Dec 10;59(11):1808-9. [PubMed ]
18. Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S: Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat. 2003 Jan;21(1):99. [PubMed ]
19. Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD, Castagni M, Bresolin N, Comi GP: Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. Muscle Nerve. 2003 Jul;28(1):113-7. [PubMed ]
20. Yabe I, Higashi T, Kikuchi S, Sasaki H, Fukazawa T, Yoshida K, Tashiro K: GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. Neurology. 2003 Aug 12;61(3):384-6. [PubMed ]
21. Broccolini A, Ricci E, Cassandrini D, Gliubizzi C, Bruno C, Tonoli E, Silvestri G, Pescatori M, Rodolico C, Sinicropi S, Servidei S, Zara F, Minetti C, Tonali PA, Mirabella M: Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. Hum Mutat. 2004 Jun;23(6):632. [PubMed ]

1. GlcNAc-PI synthesis protein
2. Phosphatidylinositol-glycan biosynthesis class A protein
3. PIG-A

MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCL
IERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRE
RVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNH
IICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLV
QGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLE
KAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHC
GPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR

• UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol [RN:R02654 R05916]

• Glycos_transf_1 (PF00534 )
• PIGA (PF08288 )

• None

• 422-442

ATGGCCTGTAGAGGAGGAGCTGGGAATGGCCACCGTGCCTCAGCTACACTCTCTCGGGTT
AGCCCTGGAAGTCTTTACACATGTAGAACCCGTACCCATAATATATGCATGGTATCTGAC
TTTTTCTACCCAAATATGGGAGGCGTGGAAAGCCACATTTACCAGCTCTCTCAGTGCCTG
ATTGAAAGAGGGCATAAGGTTATAATTGTCACCCATGCTTATGGAAATCGAAAAGGCATC
CGTTACCTCACCAGTGGCCTCAAAGTCTATTACTTGCCTCTGAAAGTCATGTACAACCAG
TCTACAGCCACGACCCTCTTTCACAGTCTGCCATTGCTCAGGTACATATTTGTTCGGGAG
AGAGTCACGATAATCCATTCACATAGTTCTTTTTCTGCTATGGCCCATGATGCTCTCTTC
CACGCCAAGACAATGGGGCTTCAGACAGTCTTCACGGACCATTCCCTTTTTGGATTTGCT
GATGTCAGCTCGGTGCTTACAAACAAGCTTCTAACCGTGTCTCTTTGTGATACAAACCAC
ATCATTTGTGTGTCTTATACTAGTAAGGAAAATACTGTACTAAGAGCAGCACTGAATCCT
GAAATAGTGTCCGTCATTCCTAATGCTGTAGATCCTACTGACTTCACTCCAGACCCATTT
AGAAGGCATGATAGTATAACTATTGTTGTTGTCAGCAGACTTGTTTACAGAAAAGGGATC
GATTTGCTTAGTGGTATAATACCTGAACTCTGTCAGAAATATCCAGATTTAAATTTCATA
ATTGGAGGAGAGGGACCAAAGAGAATCATTTTGGAAGAAGTTCGGGAAAGATACCAGCTG
CATGACAGGGTGCGTCTTTTGGGAGCTTTAGAACACAAGGATGTTAGAAATGTCTTAGTT
CAAGGACATATTTTTCTGAATACCTCCCTTACTGAAGCATTCTGCATGGCGATCGTGGAA
GCAGCCAGTTGTGGTTTACAGGTTGTAAGTACCAGAGTTGGTGGAATTCCTGAGGTGCTT
CCAGAAAACCTTATTATTTTATGTGAGCCTTCAGTAAAATCTTTGTGTGAAGGATTGGAA
AAGGCTATTTTCCAACTGAAGTCAGGGACATTGCCAGCTCCAGAAAACATCCATAACATA
GTAAAGACTTTCTACACCTGGAGGAATGTTGCAGAAAGAACTGAAAAGGTATATGACCGG
GTATCAGTGGAAGCTGTGTTGCCAATGGACAAACGACTGGACAGACTTATTTCTCACTGC
GGCCCAGTAACAGGCTACATCTTTGCTTTGTTGGCAGTTTTCAACTTCCTCTTCCTCATT
TTCTTGAGATGGATGACTCCAGATTCTATCATTGATGTTGCAATAGATGCCACTGGGCCA
CGGGGTGCCTGGACTAATAACTATTCTCACAGTAAAAGAGGGGGTGAGAATAATGAGATA
TCTGAAACCAGGTAG

1. Miyata T, Takeda J, Iida Y, Yamada N, Inoue N, Takahashi M, Maeda K, Kitani T, Kinoshita T: The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science. 1993 Feb 26;259(5099):1318-20. [PubMed ]
2. Bessler M, Hillmen P, Longo L, Luzzatto L, Mason PJ: Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21. Hum Mol Genet. 1994 May;3(5):751-7. [PubMed ]
3. Iida Y, Takeda J, Miyata T, Inoue N, Nishimura J, Kitani T, Maeda K, Kinoshita T: Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria. Blood. 1994 Jun 1;83(11):3126-31. [PubMed ]
4. Yu J, Nagarajan S, Ueda E, Knez JJ, Petersen RB, Medof ME: Characterization of alternatively spliced PIG-A transcripts in normal and paroxysmal nocturnal hemoglobinuria cells. Braz J Med Biol Res. 1994 Feb;27(2):195-201. [PubMed ]
5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
6. Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T: Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 1993 May 21;73(4):703-11. [PubMed ]
7. Murakami Y, Siripanyaphinyo U, Hong Y, Tashima Y, Maeda Y, Kinoshita T: The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. Mol Biol Cell. 2005 Nov;16(11):5236-46. Epub 2005 Sep 14. [PubMed ]
8. Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Mol Cell. 2008 Aug 8;31(3):438-48. [PubMed ]
9. Bessler M, Mason PJ, Hillmen P, Miyata T, Yamada N, Takeda J, Luzzatto L, Kinoshita T: Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO J. 1994 Jan 1;13(1):110-7. [PubMed ]
10. Ware RE, Rosse WF, Howard TA: Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. Blood. 1994 May 1;83(9):2418-22. [PubMed ]
11. Nafa K, Bessler M, Castro-Malaspina H, Jhanwar S, Luzzatto L: The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. Blood Cells Mol Dis. 1998 Sep;24(3):370-84. [PubMed ]
12. Yoon JH, Cho HI, Park SS, Chang YH, Kim BK: Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria. J Clin Pathol. 2002 Jun;55(6):410-3. [PubMed ]

1. Antigen X
2. AGX
3. Sperm-associated antigen 2
4. UDP-N-acetylgalactosamine pyrophosphorylase
5. AGX-1
6. UDP-N-acetylglucosamine pyrophosphorylase
7. AGX-2

MNINDLKLTLSKAGQEHLLRFWNELEEAQQVELYAELQAMNFEELNFFFQKAIEGFNQSS
HQKNVDARMEPVPREVLGSATRDQDQLQAWESEGLFQISQNKVAVLLLAGGQGTRLGVAY
PKGMYDVGLPSRKTLFQIQAERILKLQQVAEKYYGNKCIIPWYIMTSGRTMESTKEFFTK
HKYFGLKKENVIFFQQGMLPAMSFDGKIILEEKNKVSMAPDGNGGLYRALAAQNIVEDME
QRGIWSIHVYCVDNILVKVADPRFIGFCIQKGADCGAKVVEKTNPTEPVGVVCRVDGVYQ
VVEYSEISLATAQKRSSDGRLLFNAGNIANHFFTVPFLRDVVNVYEPQLQHHVAQKKIPY
VDTQGQLIKPDKPNGIKMEKFVFDIFQFAKKFVVYEVLREDEFSPLKNADSQNGKDNPTT
ARHALMSLHHCWVLNAGGHFIDENGSRLPAIPRSATNGKSETITADVNHNLKDANDVPIQ
CEISPLISYAGEGLESYVADKEFHAPLIIDENGVHELVKNGI

• Aminosugars metabolism (map00530 )

• UTP + N-acetyl-alpha-D-glucosamine 1-phosphate = diphosphate + UDP-N-acetyl-D-glucosamine [RN:R00416]

• UDPGP (PF01704 )

• None

• None

ATGAACATTAATGACCTCAAACTCACGTTGTCCAAAGCTGGGCAAGAGCACCTACTACGT
TTCTGGAATGAGCTTGAAGAAGCCCAACAGGTAGAACTTTATGCAGAGCTCCAGGCCATG
AACTTTGAGGAGCTGAACTTCTTTTTCCAAAAGGCCATTGAAGGTTTTAACCAGTCTTCT
CACCAAAAGAATGTGGATGCACGAATGGAACCTGTGCCTCGAGAGGTATTAGGCAGTGCT
ACAAGGGATCAAGATCAGCTCCAGGCCTGGGAAAGTGAAGGACTTTTCCAGATTTCTCAG
AATAAAGTAGCAGTTCTTCTTCTAGCTGGTGGGCAGGGGACAAGACTCGGCGTTGCATAT
CCTAAGGGGATGTATGATGTTGGTTTGCCATCCCGTAAGACACTTTTTCAGATTCAAGCA
GAGCGTATCCTGAAGCTACAGCAGGTTGCTGAAAAATATTATGGCAACAAATGCATTATT
CCATGGTATATAATGACCAGTGGCAGAACAATGGAATCTACAAAGGAGTTCTTCACCAAG
CACAAGTACTTTGGTTTAAAAAAAGAGAATGTAATCTTTTTTCAGCAAGGAATGCTCCCC
GCCATGAGTTTTGATGGGAAAATTATTTTGGAAGAGAAGAACAAAGTTTCTATGGCTCCA
GATGGGAATGGTGGTCTTTATCGGGCACTTGCAGCCCAGAATATTGTGGAGGATATGGAG
CAAAGAGGCATTTGGAGCATTCATGTCTATTGTGTTGACAACATATTAGTAAAAGTGGCA
GACCCACGGTTCATTGGATTTTGCATTCAGAAAGGAGCAGACTGTGGAGCAAAGGTGGTA
GAGAAAACGAACCCTACAGAACCAGTTGGAGTGGTTTGCCGAGTGGATGGAGTTTACCAG
GTGGTAGAATATAGTGAGATTTCCCTGGCAACAGCTCAAAAACGAAGCTCAGACGGACGA
CTGCTGTTCAATGCGGGGAACATTGCCAACCATTTCTTCACTGTACCATTTCTGAGAGAT
GTTGTCAATGTTTATGAACCTCAGTTGCAGCACCATGTGGCTCAAAAGAAGATTCCTTAT
GTGGATACCCAAGGACAGTTAATTAAGCCAGACAAACCCAATGGAATAAAGATGGAAAAA
TTTGTCTTTGACATCTTCCAGTTTGCAAAGAAGTTTGTGGTATATGAAGTATTGCGAGAA
GATGAGTTTTCCCCACTAAAGAATGCTGATAGTCAGAATGGGAAAGACAACCCTACTACT
GCAAGGCATGCTTTGATGTCCCTTCATCATTGCTGGGTCCTCAATGCAGGGGGCCATTTC
ATAGATGAAAATGGCTCTCGCCTTCCAGCAATTCCCCGCTTGAAGGATGCCAATGATGTA
CCAATCCAATGTGAAATCTCTCCTCTTATCTCCTATGCTGGAGAAGGATTAGAAAGTTAT
GTGGCAGATAAAGAATTCCATGCACCTCTAATCATCGATGAGAATGGAGTTCATGAGCTG
GTGAAAAATGGTATTTGA

1. Diekman AB, Goldberg E: Characterization of a human antigen with sera from infertile patients. Biol Reprod. 1994 May;50(5):1087-93. [PubMed ]
2. Mio T, Yabe T, Arisawa M, Yamada-Okabe H: The eukaryotic UDP-N-acetylglucosamine pyrophosphorylases. Gene cloning, protein expression, and catalytic mechanism. J Biol Chem. 1998 Jun 5;273(23):14392-7. [PubMed ]
3. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
4. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed ]
5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
6. Wang-Gillam A, Pastuszak I, Elbein AD: A 17-amino acid insert changes UDP-N-acetylhexosamine pyrophosphorylase specificity from UDP-GalNAc to UDP-GlcNAc. J Biol Chem. 1998 Oct 16;273(42):27055-7. [PubMed ]
7. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. Epub 2009 Jul 16. [PubMed ]
8. Peneff C, Ferrari P, Charrier V, Taburet Y, Monnier C, Zamboni V, Winter J, Harnois M, Fassy F, Bourne Y: Crystal structures of two human pyrophosphorylase isoforms in complexes with UDPGlc(Gal)NAc: role of the alternatively spliced insert in the enzyme oligomeric assembly and active site architecture. EMBO J. 2001 Nov 15;20(22):6191-202. [PubMed ]

1. GlcNAc-1-P transferase
2. G1PT
3. GPT
4. N-acetylglucosamine-1-phosphate transferase

MWAFSELPMPLLINLIVSLLGFVATVTLIPAFRGHFIAARLCGQDLNKTSRQQIPESQGV
ISGAVFLIILFCFIPFPFLNCFVKEQCKAFPHHEFVALIGALLAICCMIFLGFADDVLNL
RWRHKLLLPTAASLPLLMVYFTNFGNTTIVVPKPFRPILGLHLDLGILYYVYMGLLAVFC
TNAINILAGINGLEAGQSLVISASIIVFNLVELEGDCRDDHVFSLYFMIPFFFTTLGLLY
HNWYPSRVFVGDTFCYFAGMTFAVVGILGHFSKTMLLFFMPQVFNFLYSLPQLLHIIPCP
RHRIPRLNIKTGKLEMSYSKFKTKSLSFLGTFILKVAESLQLVTVHQSETEDGEFTECNN
MTLINLLLKVLGPIHERNLTLLLLLLQILGSAITFSIRYQLVRLFYDV

• N-Glycan biosynthesis (map00510 )

• UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol [RN:R01007 R05969]

• Glycos_transf_4 (PF00953 )

• None

• 7-32 58-79 95-114 126-145 165-184 195-211 222-240 253-269 275-294 379-397

ATGTGGGCCTTCTCGGAATTGCCCATGCCGCTGCTGATCAATTTGATCGTCTCGCTGCTG
GGATTTGTGGCCACAGTCACCCTCATCCCGGCCTTCCGGGGCCACTTCATTGCTGCGCGC
CTCTGTGGTCAGGACCTCAACAAAACCAGCCGACAGCAGATCCCAGAATCCCAGGGAGTG
ATCAGCGGTGCTGTTTTCCTTATCATCCTCTTCTGCTTCATCCCTTTCCCCTTCCTGAAC
TGCTTTGTGAAGGAGCAGTGTAAGGCATTCCCCCACCATGAATTTGTGGCCCTGATAGGT
GCCCTCCTTGCCATCTGCTGCATGATCTTCCTGGGCTTTGCGGATGATGTACTGAATCTG
CGCTGGCGCCATAAGCTGCTGCTACATACAGCTGCCTCACTACCTCTCCTCATGGTATAT
TTCACCAACTTTGGCAACACGACCATTGTGGTGCCCAAGCCTTTCCGCCCGATACTTGGC
CTGCATCTGGACTTGGGAATCCTGTACTATGTCTACATGGGGCTGCTGGCAGTGTTCTGT
ACCAATGCCATCAATATCCTAGCAGGAATTAACGGCCTAGAGGCTGGCCAGTCACTAGTC
ATTTCTGCTTCCATCATTGTCTTCAACCTGGTAGAGTTGGAAGGTGATTGTCGGGATGAT
CATGTCTTTTCCCTCTACTTCATGATACCCTTTTTTTTCACCACTTTGGGATTGCTCTAC
CACAACTGGTACCCATCACGGGTGTTTGTGGGAGATACCTTCTGTTACTTTGCTGGCATG
ACCTTTGCCGTGGTGGGCATCTTGGGACACTTCAGCAAGACCATGCTACTATTCTTCATG
CCCCAGGTGTTCAACTTCCTCTACTCACTGCCTCAGCTCCTGCATATCATCCCCTGCCCT
CGCCACCGCATACCCAGACTCAATATCAAGACAGGCAAACTGGAGATGAGCTATTCCAAG
TTCAAGACCAAGAGCCTCTCTTTCTTGGGCACCTTTATTTTAAAGGTGGCAGAGAGCCTC
CAGCTGGTGACAGTACACCAGAGTGAGACTGAAGATGGTGAATTCACTGAATGTAACAAC
ATGACCCTCATCAACTTGCTACTTAAAGTCCTTGGGCCCATACATGAGAGAAACCTCACA
TTGCTCCTGCTGCTGCTGCAGATCCTGGGCAGTGCCATCACCTTCTCCATTCGATATCAG
CTCGTTCGACTCTTCTATGATGTCTGA

1. Eckert V, Blank M, Mazhari-Tabrizi R, Mumberg D, Funk M, Schwarz RT: Cloning and functional expression of the human GlcNAc-1-P transferase, the enzyme for the committed step of the dolichol cycle, by heterologous complementation in Saccharomyces cerevisiae. Glycobiology. 1998 Jan;8(1):77-85. [PubMed ]
2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
3. Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH: Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat. 2003 Aug;22(2):144-50. [PubMed ]
4. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [PubMed ]

1. Beta-1,2-N-acetylglucosaminyltransferase II
2. GlcNAc-T II
3. GNT-II
4. Mannoside acetylglucosaminyltransferase 2
5. N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II

MRFRIYKRKVLILTLVVAACGFVLWSSNGRQRKNEALAPPLLDAEPARGAGGRGGDHPSV
AVGIRRVSNVSAASLVPAVPQPEADNLTLRYRSLVYQLNFDQTLRNVDKAGTWAPRELVL
VVQVHNRPEYLRLLLDSLRKAQGIDNVLVIFSHDFWSTEINQLIAGVNFCPVLQVFFPFS
IQLYPNEFPGSDPRDCPRDLPKNAALKLGCINAEYPDSFGHYREAKFSQTKHHWWWKLHF
VWERVKILRDYAGLILFLEEDHYLAPDFYHVFKKMWKLKQQECPECDVLSLGTYSASRSF
YGMADKVDVKTWKSTEHNMGLALTRNAYQKLIECTDTFCTYDDYNWDWTLQYLTVSCLPK
FWKVLVPQIPRIFHAGDCGMHHKKTCRPSTQSAQIESLLNNNKQYMFPETLTISEKFTVV
AISPPRKNGGWGDIRDHELCKSYRRLQ

• N-Glycan biosynthesis (map00510 )

• UDP-N-acetyl-D-glucosamine + 6-(alpha-D-mannosyl)-beta-D-mannosyl-R = UDP + 6-(2-[N-acetyl-beta-D-glucosaminyl]-alpha-D-mannosyl)-beta-D- mannosyl-R [RN:R07258]

• MGAT2 (PF05060 )

• None

• 10-29

ATGAGGTTCCGCATCTACAAACGGAAGGTGCTAATCCTGACGCTCGTGGTGGCCGCCTGC
GGCTTCGTCCTCTGGAGCAGCAATGGGCGACAAAGGAAGAACGAGGCCCTCGCCCCACCG
TTGCTGGACGCCGAACCCGCGCGGGGTGCCGGCGGCCGCGGTGGGGACCACCCCTCTGTG
GCTGTGGGCATCCGCAGGGTCTCCAACGTGTCGGCGGCTTCCCTGGTCCCGGCGGTCCCC
CAGCCCGAGGCGGACAACCTGACGCTGCGGTACCGGTCCCTGGTGTACCAGCTGAACTTT
GATCAGACCCTGAGGAATGTAGATAAGGCTGGCACCTGGGCCCCCCGGGAGCTGGTGCTG
GTGGTCCAGGTGCATAACCGGCCCGAATACCTCAGACTGCTGCTGGACTCACTTCGAAAA
GCCCAGGGAATTGACAACGTCCTCGTCATCTTTAGCCATGACTTCTGGTCGACCGAGATC
AATCAGCTGATCGCCGGGGTGAATTTCTGTCCGGTTCTGCAGGTGTTCTTTCCTTTCAGC
ATTCAGTTGTACCCTAACGAGTTTCCAGGTAGTGACCCTAGAGATTGTCCCAGAGACCTG
CCGAAGAATGCCGCTTTGAAATTGGGGTGCATCAATGCTGAGTATCCCGACTCCTTCGGC
CATTATAGAGAGGCCAAATTCTCCCAGACCAAACATCACTGGTGGTGGAAGCTGCATTTT
GTGTGGGAAAGAGTGAAAATTCTTCGAGATTATGCTGGCCTTATACTTTTCCTAGAAGAG
GATCACTACTTAGCCCCAGACTTTTACCATGTCTTCAAAAAGATGTGGAAACTGAAGCAG
CAAGAGTGCCCTGAATGTGATGTTCTCTCCCTGGGGACCTATAGTGCCAGTCGCAGTTTC
TATGGCATGGCTGACAAGGTAGATGTGAAAACTTGGAAATCCACAGAGCACAATATGGGT
CTAGCCTTGACCCGGAATGCCTATCAGAAGCTGATCGAGTGCACAGACACTTTCTGTACT
TATGATGATTATAACTGGGACTGGACTCTTCAATACTTGACTGTATCTTGTCTTCCAAAA
TTCTGGAAAGTGCTGGTTCCTCAAATTCCTAGGATCTTTCATGCTGGAGACTGTGGTATG
CATCACAAGAAAACCTGTAGACCATCCACTCAGAGTGCCCAAATTGAGTCACTCTTAAAT
AATAACAAACAATACATGTTTCCAGAAACTCTAACTATCAGTGAAAAGTTTACTGTGGTA
GCCATTTCCCCACCTAGAAAAAATGGAGGGTGGGGAGATATTAGGGACCATGAACTCTGT
AAAAGTTATAGAAGACTGCAGTGA

1. Tan J, D'Agostaro AF, Bendiak B, Reck F, Sarkar M, Squire JA, Leong P, Schachter H: The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein. Eur J Biochem. 1995 Jul 15;231(2):317-28. [PubMed ]
2. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
4. Tan J, Dunn J, Jaeken J, Schachter H: Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Am J Hum Genet. 1996 Oct;59(4):810-7. [PubMed ]
5. Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N: Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. J Med Genet. 2000 Nov;37(11):875-7. [PubMed ]

1. Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
2. Multiple exostoses protein 1
3. Putative tumor suppressor protein EXT1

MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPD
ALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYP
QQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQS
LHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD
HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH
GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVML
SNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF
TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIE
GESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD
NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFL
VSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHS
QMRLDPVLFKDQVSILRKKYRDIERL

• Chondroitin / Heparan sulfate biosynthesis (map00532 )

• UDP-alpha-D-glucuronate + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl- proteoglycan = UDP + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)- beta-D-glucuronosyl-proteoglycan [RN:R07335]

• Exostosin (PF03016 )
• Glyco_transf_64 (PF09258 )

• None

• 8-28

ATGCAGGCCAAAAAACGCTATTTCATCCTGCTCTCAGCTGGCTCTTGTCTCGCCCTTTTG
TTTTATTTCGGAGGCTTGCAGTTTAGGGCATCGAGGAGCCACAGCCGGAGAGAAGAACAC
AGCGGTAGGAATGGCTTGCACCACCCCAGTCCGGATCATTTCTGGCCCCGCTTCCCGGAG
CCTCTGCGCCCCTTCGTTCCTTGGGATCAATTGGAAAACGAGGATTCCAGCGTGCACATT
TCCCCCCGGCAGAAGCGAGATGCCAACTCCAGCATCTACAAAGGCAAGAAGTGCCGCATG
GAGTCCTGCTTCGATTTCACCCTTTGCAAGAAAAACGGCTTCAAAGTCTACGTATACCCA
CAGCAAAAAGGGGAGAAAATCGCCGAAAGTTACCAAAACATTCTAGCGGCCATCGAGGGC
TCCAGGTTCTACACCTCGGACCCCAGCCAGGCGTGCCTCTTTGTCCTGAGTCTGGATACT
TTAGACAGAGACCAGTTGTCACCTCAGTATGTGCACAATTTGAGATCCAAAGTGCAGAGT
CTCCACTTGTGGAACAATGGTAGGAATCATTTAATTTTTAATTTATATTCCGGCACTTGG
CCTGACTACACCGAGGACGTGGGGTTTGACATCGGCCAGGCGATGCTGGCCAAAGCCAGC
ATCAGTACTGAAAACTTCCGACCCAACTTTGATGTTTCTATTCCCCTCTTTTCTAAGGAT
CATCCCAGGACAGGAGGGGAGAGGGGGTTTTTGAAGTTCAACACCATCCCTCCTCTCAGG
AAGTACATGCTGGTATTCAAGGGGAAGAGGTACCTGACAGGGATAGGATCAGACACCAGG
AATGCCTTATATCACGTCCATAACGGGGAGGACGTTGTGCTCCTCACCACCTGCAAGCAT
GGCAAAGACTGGCAAAAGCACAAGGATTCTCGCTGTGACAGAGACAACACCGAGTATGAG
AAGTATGATTATCGGGAAATGCTGCACAATGCCACTTTCTGTCTGGTTCCTCGTGGTCGC
AGGCTTGGGTCCTTCAGATTCCTGGAGGCTTTGCAGGCTGCCTGCGTCCCTGTGATGCTC
AGCAATGGATGGGAGTTGCCATTCTCTGAAGTGATTAATTGGAACCAAGCTGCCGTCATA
GGCGATGAGAGATTGTTATTACAGATTCCTTCTACAATCAGGTCTATTCATCAGGATAAA
ATCCTAGCACTTAGACAGCAGACACAATTCTTGTGGGAGGCTTATTTTTCTTCAGTTGAG
AAGATTGTATTAACTACACTAGAGATTATTCAGGACAGAATATTCAAGCACATATCACGT
AACAGTTTAATATGGAACAAACATCCTGGAGGATTGTTCGTACTACCACAGTATTCATCT
TATCTGGGAGATTTTCCTTACTACTATGCTAATTTAGGTTTAAAGCCCCCCTCCAAATTC
ACTGCAGTCATCCATGCGGTGACCCCCCTGGTCTCTCAGTCCCAGCCAGTGTTGAAGCTT
CTCGTGGCTGCAGCCAAGTCCCAGTACTGTGCCCAGATCATAGTTCTATGGAATTGTGAC
AAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAA
GGAGAGAGCAAGGTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCC
GTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAGGTGGATTTCGCCTTCACA
GTGTGGCAGAGCTTCCCTGAGAGGATTGTGGGGTACCCCGCGCGCAGCCACTTCTGGGAT
AACTCTAAGGAGCGGTGGGGATACACATCAAAGTGGACGAACGACTACTCCATGGTGTTG
ACAGGAGCTGCTATTTACCACAAATATTATCACTACCTATACTCCCATTACCTGCCAGCC
AGCCTGAAGAACATGGTGGACCAATTGGCCAATTGTGAGGACATTCTCATGAACTTCCTG
GTGTCTGCTGTGACAAAATTGCCTCCAATCAAAGTGACCCAGAAGAAGCAGTATAAGGAG
ACAATGATGGGACAGACTTCTCGGGCTTCCCGTTGGGCTGACCCTGACCACTTTGCCCAG
CGACAGAGCTGCATGAATACGTTTGCCAGCTGGTTTGGCTACATGCCGCTGATCCACTCT
CAGATGAGGCTCGACCCCGTCCTCTTTAAAGACCAGGTCTCTATTTTGAGGAAGAAATAC
CGAGACATTGAGCGACTTTGA

1. Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE: Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet. 1995 Oct;11(2):137-43. [PubMed ]
2. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
4. Ludecke HJ, Ahn J, Lin X, Hill A, Wagner MJ, Schomburg L, Horsthemke B, Wells DE: Genomic organization and promoter structure of the human EXT1 gene. Genomics. 1997 Mar 1;40(2):351-4. [PubMed ]
5. Kobayashi S, Morimoto K, Shimizu T, Takahashi M, Kurosawa H, Shirasawa T: Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. Biochem Biophys Res Commun. 2000 Feb 24;268(3):860-7. [PubMed ]
6. Duncan G, McCormick C, Tufaro F: The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. J Clin Invest. 2001 Aug;108(4):511-6. [PubMed ]
7. Wuyts W, Van Hul W: Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat. 2000;15(3):220-7. [PubMed ]
8. Hecht JT, Hogue D, Wang Y, Blanton SH, Wagner M, Strong LC, Raskind W, Hansen MF, Wells D: Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am J Hum Genet. 1997 Jan;60(1):80-6. [PubMed ]
9. Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP: Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am J Hum Genet. 1997 Sep;61(3):520-8. [PubMed ]
10. Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Ludecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ: Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet. 1998 Feb;62(2):346-54. [PubMed ]
11. Raskind WH, Conrad EU 3rd, Matsushita M, Wijsman EM, Wells DE, Chapman N, Sandell LJ, Wagner M, Houck J: Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. Hum Mutat. 1998;11(3):231-9. [PubMed ]
12. Bovee JV, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AH, Bakker E, Van Hul W, Cornelisse CJ, Hogendoorn PC: EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am J Hum Genet. 1999 Sep;65(3):689-98. [PubMed ]
13. Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, Pan Q, Long Z, Fan C, Deng HX: Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet. 1999 Jul-Aug;105(1-2):45-50. [PubMed ]
14. Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, Clines GA, Ludecke HJ, Lovett M, Van Winkle WB, Hecht JT: Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. Cell Motil Cytoskeleton. 2001 Feb;48(2):149-62. [PubMed ]
15. Cheung PK, McCormick C, Crawford BE, Esko JD, Tufaro F, Duncan G: Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. Am J Hum Genet. 2001 Jul;69(1):55-66. Epub 2001 Jun 5. [PubMed ]

1. Hyaluronate synthase 1
2. Hyaluronic acid synthase 1
3. HA synthase 1
4. HuHAS1

MRQQDAPKPTPAACRCSGLARRVLTIAFALLILGLMTWAYAAGVPLASDRYGLLAFGLYG
AFLSAHLVAQSLFAYLEHRRVAAAARGPLDAATARSVALTISAYQEDPAYLRQCLASARA
LLYPRARLRVLMVVDGNRAEDLYMVDMFREVFADEDPATYVWDGNYHQPWEPAAAGAVGA
GAYREVEAEDPGRLAVEALVRTRRCVCVAQRWGGKREVMYTAFKALGDSVDYVQVCDSDT
RLDPMALLELVRVLDEDPRVGAVGGDVRILNPLDSWVSFLSSLRYWVAFNVERACQSYFH
CVSCISGPLGLYRNNLLQQFLEAWYNQKFLGTHCTFGDDRHLTNRMLSMGYATKYTSRSR
CYSETPSSFLRWLSQQTRWSKSYFREWLYNALWWHRHHAWMTYEAVVSGLFPFFVAATVL
RLFYAGRPWALLWVLLCVQGVALAKAAFAAWLRGCLRMVLLSLYAPLYMCGLLPAKFLAL
VTMNQSGWGTSGRRKLAANYVPLLPLALWALLLLGGLVRSVAHEARADWSGPSRAAEAYH
LAAGAGAYVGYWVAMLTLYWVGVRRLCRRRTGGYRVQV

• (1) UDP-alpha-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)- [nascent hyaluronan] = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N- acetyl-beta-D-glucosaminyl-(1->4)-[nascent hyaluronan] [RN:R05327 R06068]
• (2) UDP-alpha-D-glucuronate + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)- [nascent hyaluronan] = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-beta- D-glucuronosyl-(1->3)-[nascent hyaluronan]

• Chitin_synth_2 (PF03142 )

• None

• 26-46 53-73 400-420 431-451 458-478 498-518 541-561

ATGAGACAGCAGGACGCGCCCAAGCCCACTCCTGCAGCCTGCCGCTGCTCCGGCCTGGCC
CGGAGGGTGCTGACCATCGCCTTCGCCCTGCTCATCCTGGGCCTCATGACCTGGGCCTAC
GCCGCCGGGGTGCCGCTGGCCTCCGATCGCTACGGCCTCCTGGCCTTCGGCCTCTACGGG
GCCTTCCTTTCAGCGCACCTGGTGGCGCAGAGCCTCTTCGCGTACCTGGAGCACCGGCGG
GTGGCGGCGGCGGCGCGGGGGCCGCTGGATGCAGCCACCGCGCGCAGTGTGGCGCTGACC
ATCTCCGCCTACCAGGAGGACCCCGCGTACCTGCGCCAGTGCCTGGCGTCCGCCCGCGCC
CTGCTGTACCCGCGCGCGCGGCTGCGCGTCCTCATGGTGGTGGATGGCAACCGCGCCGAG
GACCTCTACATGGTCGACATGTTCCGCGAGGTCTTCGCTGACGAGGACCCCGCCACGTAC
GTGTGGGACGGCAACTACCACCAGCCCTGGGAACCCGCGGCGGCGGGCGCGGTGGGCGCC
GGAGCCTATCGGGAGGTGGAGGCGGAGGATCCTGGGCGGCTGGCAGTGGAGGCGCTGGTG
AGGACTCGCAGGTGCGTGTGCGTGGCGCAGCGCTGGGGCGGCAAGCGCGAGGTCATGTAC
ACAGCCTTCAAGGCGCTCGGAGATTCGGTGGACTACGTGCAGGTCTGTGACTCGGACACA
AGGTTGGACCCCATGGCACTGCTGGAGCTCGTGCGGGTACTGGACGAGGACCCCCGGGTA
GGGGCTGTTGGTGGGGACGTGCGGATCCTTAACCCTCTGGACTCCTGGGTCAGCTTCCTA
AGCAGCCTGCGATACTGGGTAGCCTTCAATGTGGAGCGGGCTTGTCAGAGCTACTTCCAC
TGTGTATCCTGCATCAGCGGTCCTCTAGGCCTATATAGGAATAACCTCTTGCAGCAGTTT
CTTGAGGCCTGGTACAACCAGAAGTTCCTGGGTACCCACTGTACTTTTGGGGATGACCGG
CACCTCACCAACCGCATGCTCAGCATGGGTTATGCTACCAAGTACACCTCCAGGTCCCGC
TGCTACTCAGAGACGCCCTCGTCCTTCCTGCGGTGGCTGAGCCAGCAGACACGCTGGTCC
AAGTCGTACTTCCGTGAGTGGCTGTACAACGCGCTCTGGTGGCACCGGCACCATGCGTGG
ATGACCTACGAGGCGGTGGTCTCCGGCCTGTTCCCCTTCTTCGTGGCGGCCACTGTGCTG
CGTCTGTTCTACGCGGGCCGCCCTTGGGCGCTGCTGTGGGTGCTGCTGTGCGTGCAGGGC
GTGGCACTGGCCAAGGCGGCCTTCGCGGCCTGGCTGCGGGGCTGCCTGCGCATGGTGCTT
CTGTCGCTCTACGCGCCCCTCTACATGTGTGGCCTCCTGCCTGCCAAGTTCCTGGCGCTA
GTCACCATGAACCAGAGTGGCTGGGGCACCTCGGGCCGGCGGAAGCTGGCCGCTAACTAC
GTCCCTCTGCTGCCCCTGGCGCTCTGGGCGCTGCTGCTGCTTGGGGGCCTGGTCCGCAGC
GTAGCACACGAGGCCAGGGCCGACTGGAGCGGCCCTTCCCGCGCAGCCGAGGCCTACCAC
TTGGCCGCGGGGGCCGGCGCCTACGTGGGCTACTGGGTGGCCATGTTGACGCTGTACTGG
GTGGGCGTGCGGAGGCTTTGCCGGCGGCGGACCGGGGGCTACCGCGTCCAGGTGTGA

1. Itano N, Kimata K: Molecular cloning of human hyaluronan synthase. Biochem Biophys Res Commun. 1996 May 24;222(3):816-20. [PubMed ]
2. Shyjan AM, Heldin P, Butcher EC, Yoshino T, Briskin MJ: Functional cloning of the cDNA for a human hyaluronan synthase. J Biol Chem. 1996 Sep 20;271(38):23395-9. [PubMed ]
3. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. [PubMed ]
4. Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H: Large-scale proteomics analysis of the human kinome. Mol Cell Proteomics. 2009 Jul;8(7):1751-64. Epub 2009 Apr 15. [PubMed ]

1. EXT-related protein 1
2. Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
3. Hereditary multiple exostoses gene isolog
4. Multiple exostosis-like protein 3
5. Putative tumor suppressor protein EXTL3

MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEA
GKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKS
IENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLH
NCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVI
LVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQ
STFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEA
RSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGERED
RLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNE
AALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQI
PAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDF
YRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPR
EQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRT
EKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDI
PHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLV
SHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVD
SVLFKTRLPHDKTKCFKFI

• Chondroitin / Heparan sulfate biosynthesis (map00532 )

• UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D- galactosyl-(1->4)-beta-D-xylosyl-proteoglycan = UDP + alpha-N-acetyl-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)- beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl- proteoglycan [RN:R05930]

• Exostosin (PF03016 )
• Glyco_transf_64 (PF09258 )

• None

• 31-51

ATGACAGGCTATACCATGCTGCGGAATGGGGGCGCGGGGAACGGAGGTCAGACCTGCATG
CTGCGCTGGTCCAACCGCATCCGCCTCACGTGGCTCAGCTTCACGCTCTTTGTCATCCTG
GTCTTCTTCCCGCTCATCGCCCACTATTACCTCACCACTCTGGATGAGGCTGATGAGGCA
GGCAAGCGGATTTTTGGTCCCCGGGTGGGGAACGAGCTGTGCGAGGTGAAGCACGTGCTG
GATCTGTGCCGCATCCGGGAGTCGGTGAGTGAAGAGCTCCTGCAGCTGGAGGCCAAGCGC
CAAGAGCTGAACAGCGAGATCGCCAAGCTGAATCTGAAGATCGAAGCCTGTAAGAAGAGC
ATTGAGAACGCCAAGCAGGACCTGCTCCAGCTCAAGAATGTCATCAGCCAGACCGAGCAT
TCCTACAAGGAGCTCATGGCCCAGAACCAGCCCAAGCTGTCCCTGCCCATCCGACTGCTC
CCAGAGAAGGACGATGCCGGCCTCCCTCCCCCGAAGGCCACTCGGGGCTGCCGGCTACAC
AACTGCTTTGATTATTCTCGTTGCCCTCTCACCTCTGGCTTCCCGGTCTACGTCTATGAC
AGTGACCAGTTTGTCTTTGGCAGCTACCTGGATCCCTTGGTCAAGCAGGCTTTTCAGGCG
ACAGCACGAGCTAACGTTTATGTTACAGAAAATGCAGACATCGCCTGCCTTTACGTGATA
CTAGTGGGAGAGATGCAGGAGCCCGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAGTTG
TATTCCCTGCCACACTGGCGGACGGATGGACACAACCATGTCATCATCAATCTGTCACGT
AAGTCAGATACACAGAACCTTCTCTATAACGTCAGTACTGGCCGTGCCATGGTGGCCCAG
TCCACCTTCTACACTGTCCAGTACAGACCTGGCTTTGACTTGGTCGTATCACCGCTGGTC
CATGCCATGTCTGAGCCCAACTTCATGGAAATCCCACCACAGGTGCCGGTGAAGCGGAAA
TATCTCTTCACCTTCCAGGGCGAGAAGATTGAGTCTCTGAGGTCTAGCCTTCAGGAGGCC
CGCTCCTTCGAAGAGGAAATGGAGGGCGACCCTCCCGCCGACTACGATGACCGGATCATT
GCCACCCTGAAGGCGGTGCAGGACAGCAAGCTGGATCAGGTCCTGGTGGAATTCACCTGC
AAAAACCAGCCCAAACCCAGCCTGCCGACTGAGTGGGCACTGTGTGGAGAGCGGGAGGAC
CGCTTGGAATTGCTGAAGCTCTCCACCTTCGCCCTCATCATTACCCCCGGGGACCCTCGC
TTGGTTATTTCCTCTGGGTGTGCAACACGGCTCTTCGAAGCCCTGGAAGTCGGTGCCGTC
CCGGTGGTGCTGGGGGAGCAGGTCCAGCTTCCCTACCAGGACATGCTGCAGTGGAACGAG
GCGGCCCTGGTGGTGCCAAAGCCTCGTGTTACCGAGGTTCATTTCCTGCTCAGAAGCCTC
TCCGATAGTGACCTCCTGGCTATGAGGCGGCAAGGCCGCTTTCTCTGGGAGACTTACTTC
TCCACTGCTGACAGTATTTTTAATACCGTGCTGGCTATGATTAGGACTCGCATCCAGATC
CCAGCCGCTCCCATCCGGGAAGAGGCGGCAGCTGAGATCCCCCACCGTTCAGGCAAGGCG
GCTGGAACTGACCCCAACATGGCTGACAACGGGGACCTGGACCTGGGGCCAGTGGAGACG
GAGCCGCCCTACGCCTCACCCAGATACCTCCGCAATTTCACTCTGACTGTCACTGACTTT
TACCGCAGCTGGAACTGTGCTCCAGGGCCTTTCCATCTTTTCCCCCACACTCCCTTTGAC
CCTGTGTTGCCCTCAGAGGCCAAATTCTTGGGCTCAGGGACTGGCTTTCGGCCTATTGGT
GGTGGAGCTGGGGGTTCTGGCAAGGAATTTCAGGCAGCGCTTGGAGGCAATGTTCCCCGA
GAGCAGTTCACGGTGGTGATGTTGACTTATGAGCGGGAGGAAGTGCTTATGAACTCTTTA
GAGAGGCTGAATGGCCTCCCTTACCTGAACAAGGTCGTGGTGGTGTGGAATTCTCCCAAG
CTGCCATCAGAGGACCTTCTGTGGCCTGACATTGGCGTTCCCATCATGGTGGTCCGTACT
GAGAAGAACAGTTTGAACAACCGATTCTTACCCTGGAATGAAATTGAGACAGAGGCCATC
CTGTCCATTGATGACGATGCTCACCTCCGCCATGACGAAATCATGTTTGGGTTCCGGGTG
TGGAGAGAAGCTCGGGACCGCATCGTGGGCTTCCCTGGCCGTTACCACGCATGGGACATC
CCCCATCAGTCCTGGCTCTACAACTCCAACTACTCCTGTGAGCTGTCCATGGTGCTGACA
GGTGCTGCCTTCTTTCACAAGTATTATGCCTACCTGTATTCTTATGTGATGCCCCAGGCC
ATCCGGGACATGGTGGATGAATACATCAACTGTGAGGACATTGCCATGAACTTCCTTGTC
TCCCACATCACTCGGAAGCCCCCCATCAAGGTGACCTCACGGTGGACATTCCGATGCCCA
GGATGCCCTCAGGCCCTGTCTCATGATGACTCCCACTTCCACGAGCGGCACAAGTGCATC
AACTTCTTCGTGAAGGTGTACGGCTACATGCCCCTCCTGTACACGCAGTTCAGGGTGGAT
TCTGTGCTCTTCAAGACACGCCTGCCCCATGACAAGACCAAGTGCTTCAAGTTCATCTAG

1. Van Hul W, Wuyts W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Bossuyt P, Willems PJ: Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics. 1998 Jan 15;47(2):230-7. [PubMed ]
2. Saito T, Seki N, Yamauchi M, Tsuji S, Hayashi A, Kozuma S, Hori T: Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. Biochem Biophys Res Commun. 1998 Feb 4;243(1):61-6. [PubMed ]
3. Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 1998 Feb 28;5(1):31-9. [PubMed ]
4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
5. McCormick C, Duncan G, Goutsos KT, Tufaro F: The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A. 2000 Jan 18;97(2):668-73. [PubMed ]

1. Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
2. Multiple exostoses protein 2
3. Putative tumor suppressor protein EXT2

MCASVKYNIRGPALIPRMKTKHRIYYITLFSIVLLGLIATGMFQFWPHSIESSNDWNVEK
RSIRDVPVVRLPADSPIPERGDLSCRMHTCFDVYRCGFNPKNKIKVYIYALKKYVDDFGV
SVSNTISREYNELLMAISDSDYYTDDINRACLFVPSIDVLNQNTLRIKETAQAMAQLSRW
DRGTNHLLFNMLPGGPPDYNTALDVPRDRALLAGGGFSTWTYRQGYDVSIPVYSPLSAEV
DLPEKGPGPRQYFLLSSQVGLHPEYREDLEALQVKHGESVLVLDKCTNLSEGVLSVRKRC
HKHQVFDYPQVLQEATFCVVLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKR
ASVVVPEEKMSDVYSILQSIPQRQIEEMQRQARWFWEAYFQSIKAIALATLQIINDRIYP
YAAISYEEWNDPPAVKWGSVSNPLFLPLIPPQSQGFTAIVLTYDRVESLFRVITEVSKVP
SLSKLLVVWNNQNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAVLAIDDD
IIMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFY
HKYFNYLYTYKMPGDIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAI
DGLSLDQTHMVERSECINKFASVFGTMPLKVVEHRADPVLYKDDFPEKLKSFPNIGSL

• Chondroitin / Heparan sulfate biosynthesis (map00532 )

• UDP-alpha-D-glucuronate + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl- proteoglycan = UDP + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)- beta-D-glucuronosyl-proteoglycan [RN:R07335]

• Exostosin (PF03016 )
• Glyco_transf_64 (PF09258 )

• None

• 26-46

ATGTGTGCGTCGGTCAAGTATAATATCCGGGGTCCTGCCCTCATCCCAAGAATGAAGACC
AAGCACCGAATCTACTATATCACCCTCTTCTCCATTGTCCTCCTGGGCCTCATTGCCACT
GGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAATGACTGGAATGTAGAGAAG
CGCAGCATCCGTGATGTGCCGGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGG
GGGGATCTCAGTTGCAGAATGCACACGTGTTTTGATGTCTATCGCTGTGGCTTCAACCCA
AAGAACAAAATCAAGGTGTATATCTATGCTCTGAAAAAGTACGTGGATGACTTTGGCGTC
TCTGTCAGCAACACCATCTCCCGGGAGTATAATGAACTGCTCATGGCCATCTCAGACAGT
GACTACTACACTGATGACATCAACCGGGCCTGTCTGTTTGTTCCCTCCATCGATGTGCTT
AACCAGAACACACTGCGCATCAAGGAGACAGCACAAGCGATGGCCCAGCTCTCTAGGTGG
GATCGAGGTACGAATCACCTGTTGTTCAACATGTTGCCTGGAGGTCCCCCAGATTATAAC
ACAGCCCTGGATGTCCCCAGAGACAGGGCCCTGTTGGCTGGTGGCGGCTTTTCTACGTGG
ACTTACCGGCAAGGCTACGATGTCAGCATTCCTGTCTATAGTCCACTGTCAGCTGAGGTG
GATCTTCCAGAGAAAGGACCAGGTCCACGGCAATACTTCCTCCTGTCATCTCAGGTGGGT
CTCCATCCTGAGTACAGAGAGGACCTAGAAGCCCTCCAGGTCAAACATGGAGAGTCAGTG
TTAGTACTCGATAAATGCACCAACCTCTCAGAGGGTGTCCTTTCTGTCCGTAAGCGCTGC
CACAAGCACCAGGTCTTCGATTACCCACAGGTGCTACAGGAGGCTACTTTCTGTGTGGTT
CTTCGTGGAGCTCGGCTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTGTGTC
CCGGTTGTCATTGCAGACTCCTATATTTTGCCTTTCTCTGAAGTTCTTGACTGGAAGAGA
GCATCTGTGGTTGTACCAGAAGAAAAGATGTCAGATGTGTACAGTATTTTGCAGAGCATC
CCCCAAAGACAGATTGAAGAAATGCAGAGACAGGCCCGGTGGTTCTGGGAAGCGTACTTC
CAGTCAATTAAAGCCATTGCCCTGGCCACCCTGCAGATTATCAATGACCGGATCTATCCA
TATGCTGCCATCTCCTATGAAGAATGGAATGACCCTCCTGCTGTGAAGTGGGGCAGCGTG
AGCAATCCACTCTTCCTCCCGCTGATCCCACCACAGTCTCAAGGGTTCACCGCCATAGTC
CTCACCTACGACCGAGTAGAGAGCCTCTTCCGGGTCATCACTGAAGTGTCCAAGGTGCCC
AGTCTATCCAAACTACTTGTCGTCTGGAATAATCAGAATAAAAACCCTCCAGAAGATTCT
CTCTGGCCCAAAATCCGGGTTCCATTAAAAGTTGTGAGGACTGCTGAAAACAAGTTAAGT
AACCGTTTCTTCCCTTATGATGAAATCGAGACAGAAGCTGTTCTGGCCATTGATGATGAT
ATCATTATGCTGACCTCTGACGAGCTGCAATTTGGTTATGAGGTCTGGCGGGAATTTCCT
GACCGGTTGGTGGGTTACCCGGGTCGTCTGCATCTCTGGGACCATGAGATGAATAAGTGG
AAGTATGAGTCTGAGTGGACGAATGAAGTGTCCATGGTGCTCACTGGGGCAGCTTTTTAT
CACAAGTATTTTAATTACCTGTATACCTACAAAATGCCTGGGGATATCAAGAACTGGGTA
GATGCTCATATGAACTGTGAAGATATTGCCATGAACTTCCTGGTGGCCAACGTCACGGGA
AAAGCAGTTATCAAGGTAACCCCACGAAAGAAATTCAAGTGTCCTGAGTGCACAGCCATA
GATGGGCTTTCACTAGACCAAACACACATGGTGGAGAGGTCAGAGTGCATCAACAAGTTT
GCTTCAGTCTTCGGGACCATGCCTCTCAAGGTGGTGGAACACCGAGCTGACCCTGTCCTG
TACAAAGATGACTTTCCTGAGAAGCTGAAGAGCTTCCCCAACATTGGCAGCTTATGA

1. Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA: The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet. 1996 Sep;14(1):25-32. [PubMed ]
2. Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ: Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet. 1996 Oct;5(10):1547-57. [PubMed ]
3. Clines GA, Ashley JA, Shah S, Lovett M: The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. Genome Res. 1997 Apr;7(4):359-67. [PubMed ]
4. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
6. Kobayashi S, Morimoto K, Shimizu T, Takahashi M, Kurosawa H, Shirasawa T: Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. Biochem Biophys Res Commun. 2000 Feb 24;268(3):860-7. [PubMed ]
7. Simmons AD, Musy MM, Lopes CS, Hwang LY, Yang YP, Lovett M: A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. Hum Mol Genet. 1999 Nov;8(12):2155-64. [PubMed ]
8. Wuyts W, Van Hul W: Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat. 2000;15(3):220-7. [PubMed ]
9. Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP: Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Am J Hum Genet. 1997 Sep;61(3):520-8. [PubMed ]
10. Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, Pan Q, Long Z, Fan C, Deng HX: Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet. 1999 Jul-Aug;105(1-2):45-50. [PubMed ]
11. Park KJ, Shin KH, Ku JL, Cho TJ, Lee SH, Choi IH, Phillipe C, Monaco AP, Porter DE, Park JG: Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses. J Hum Genet. 1999;44(4):230-4. [PubMed ]
12. Shi YR, Wu JY, Tsai FJ, Lee CC, Tsai CH: An R223P mutation in EXT2 gene causes hereditary multiple exostoses. Hum Mutat. 2000 Apr;15(4):390-1. [PubMed ]
13. Seki H, Kubota T, Ikegawa S, Haga N, Fujioka F, Ohzeki S, Wakui K, Yoshikawa H, Takaoka K, Fukushima Y: Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. Am J Med Genet. 2001 Feb 15;99(1):59-62. [PubMed ]
14. Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, Clines GA, Ludecke HJ, Lovett M, Van Winkle WB, Hecht JT: Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. Cell Motil Cytoskeleton. 2001 Feb;48(2):149-62. [PubMed ]
15. Gigante M, Matera MG, Seripa D, Izzo AM, Venanzi R, Giannotti A, Digilio MC, Gravina C, Lazzari M, Monteleone G, Monteleone M, Dallapiccola B, Fazio VM: Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. Int J Cancer. 2001 Nov 20;95(6):378-83. [PubMed ]
16. Francannet C, Cohen-Tanugi A, Le Merrer M, Munnich A, Bonaventure J, Legeai-Mallet L: Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet. 2001 Jul;38(7):430-4. [PubMed ]

1. Exostosin-L
2. Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
3. Multiple exostosis-like protein

MQSWRRRKSLWLALSASWLLLVLLGGFSLLRLALPPRPRPGASQGWPRWLDAELLQSFSQ
PGELPEDAVSPPQAPHGGSCNWESCFDTSKCRGDGLKVFVYPAVGTISETHRRILASIEG
SRFYTFSPAGACLLLLLSLDAQTGECSSMPLQWNRGRNHLVLRLHPAPCPRTFQLGQAMV
AEASPTVDSFRPGFDVALPFLPEAHPLRGGAPGQLRQHSPQPGVALLALEEERGGWRTAD
TGSSACPWDGRCEQDPGPGQTQRQETLPNATFCLISGHRPEAASRFLQALQAGCIPVLLS
PRWELPFSEVIDWTKAAIVADERLPLQVLAALQEMSPARVLALRQQTQFLWDAYFSSVEK
VIHTTLEVIQDRIFGTSAHPSLLWNSPPGALLALSTFSTSPQDFPFYYLQQGSRPEGRFS
ALIWVGPPGQPPLKLIQAVAGSQHCAQILVLWSNERPLPSRWPETAVPLTVIDGHRKVSD
RFYPYSTIRTDAILSLDARSSLSTSEVDFAFLVWQSFPERMVGFLTSSHFWDEAHGGWGY
TAERTNEFSMVLTTAAFYHRYYHTLFTHSLPKALRTLADEAPTCVDVLMNFIVAAVTKLP
PIKVPYGKQRQEAAPLAPGGPGPRPKPPAPAPDCINQIAAAFGHMPLLSSRLRLDPVLFK
DPVSVQRKKYRSLEKP

• Chondroitin / Heparan sulfate biosynthesis (map00532 )

• UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl- proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N- acetyl-alpha-D-glucosaminyl-proteoglycan [RN:R07334]

• Exostosin (PF03016 )
• Glyco_transf_64 (PF09258 )

• None

• 10-30

ATGCAGTCGTGGAGGAGAAGAAAGTCCCTGTGGCTGGCACTGTCAGCCTCCTGGCTCCTG
CTTGTCCTGCTGGGAGGCTTCTCCCTTCTCCGCCTGGCGTTGCCTCCCAGACCTCGGCCC
GGGGCTTCCCAAGGCTGGCCCCGCTGGCTGGATGCAGAGCTCCTGCAGAGCTTCTCCCAG
CCTGGAGAGCTCCCAGAAGATGCCGTTTCACCTCCTCAAGCCCCTCATGGTGGCAGCTGC
AACTGGGAATCTTGCTTTGATACCTCAAAGTGCAGGGGCGATGGCCTTAAGGTATTCGTG
TACCCAGCGGTTGGAACCATCTCTGAGACTCATCGCAGGATCCTGGCTTCCATTGAGGGC
TCTCGCTTCTACACATTCAGCCCTGCTGGGGCCTGCCTCCTCCTCCTCCTCAGCCTGGAC
GCCCAGACTGGAGAGTGCAGCTCAATGCCTCTGCAATGGAACAGGGGCAGGAACCATCTG
GTCCTCCGTCTCCACCCGGCTCCCTGCCCCAGGACCTTCCAGCTGGGACAGGCTATGGTG
GCTGAGGCCAGCCCCACGGTGGACTCCTTCCGGCCCGGCTTTGATGTGGCCCTCCCTTTT
CTCCCTGAAGCCCACCCGTTGCGAGGTGGGGCTCCTGGCCAGCTGCGGCAACACAGCCCC
CAGCCCGGGGTAGCCCTGCTAGCCCTGGAAGAGGAGAGGGGTGGGTGGCGCACAGCAGAC
ACTGGCTCCTCTGCCTGCCCCTGGGATGGGCGCTGTGAGCAAGACCCTGGACCTGGGCAG
ACCCAGCGCCAGGAGACGCTGCCCAATGCCACCTTCTGCCTCATCTCTGGCCACCGTCCC
GAGGCTGCCTCGCGCTTCCTCCAAGCCCTGCAGGCCGGCTGCATCCCAGTGCTTCTCAGC
CCCCGCTGGGAGCTGCCCTTCTCCGAGGTCATCGACTGGACCAAGGCAGCCATCGTAGCT
GATGAGAGGCTCCCACTTCAGGTCCTGGCTGCCCTCCAGGAGATGTCCCCTGCACGGGTC
CTCGCCCTGCGTCAGCAGACCCAGTTTCTATGGGATGCCTACTTCTCCTCAGTGGAGAAG
GTCATCCATACCACTCTGGAGGTTATTCAGGACCGGATTTTTGGAACATCAGCTAACCCC
TCACTGCTGTGGAACAGCCCCCCAGGGGCACTCCTGGCCCTGTCTACTTTTTCCACAAGC
CCCCAGGACTTCCCCTTCTACTACCTGCAACAGGGCTCCCGCCCTGAGGGCAGATTCAGC
GCCCTGATCTGGGTGGGGCCCCCAGGCCAGCCCCCTCTGAAGCTCATCCAGGCGGTGGCA
GGCTCCCAGCACTGTGCCCAGATCTTGGTTCTCTGGAGCAATGAGAGGCCACTCCCATCC
AGGTGGCCGGAGACAGCTGTGCCCTTGACAGTCATTGATGGGCACAGGAAGGTTAGTGAT
CGCTTCTACCCATATAGCACCATCAGAACAGATGCCATCCTCAGCCTCGATGCCCGCAGC
AGTCTTTCCACAAGTGAGGTGGACTTTGCCTTTCTGGTGTGGCAGAGCTTCCCAGAGCGG
ATGGTGGGCTTCCTGACGTCGAGCCATTTCTGGGACGAGGCCCATGGTGGCTGGGGCTAC
ACTGCTGAGAGGACCAACGAATTCTCCATGGTTCTCACCACAGCCGCCTTCTACCATAGG
TATTACCACACTCTCTTCACCCACTCCCTGCCCAAGGCTCTGAGGACCCTGGCAGATGAG
GCACCCACCTGTGTGGACGTCCTGATGAATTTCATAGTAGCAGCAGTCACCAAGCTGCCC
CCTATCAAGGTGCCCTATGGCAAGCAGCGCCAGGAGGCTGCTCCACTGGCGCCTGGGGGC
CCGGGGCCCAGGCCAAAGCCGCCTGCCCCAGCCCCCGACTGCATCAACCAGATAGCGGCA
GCGTTCGGCCACATGCCCTTGCTGTCCTCTCGTCTGCGTCTGGACCCGGTGCTGTTTAAG
GACCCGGTGTCCGTGCAGCGCAAGAAGTACCGCAGCCTGGAGAAGCCCTAG

1. Wise CA, Clines GA, Massa H, Trask BJ, Lovett M: Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res. 1997 Jan;7(1):10-6. [PubMed ]
2. Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, Pan Q, Long Z, Fan C, Deng HX: Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet. 1999 Jul-Aug;105(1-2):45-50. [PubMed ]
3. Wuyts W, Spieker N, Van Roy N, De Boulle K, De Paepe A, Willems PJ, Van Hul W, Versteeg R, Speleman F: Refined physical mapping and genomic structure of the EXTL1 gene. Cytogenet Cell Genet. 1999;86(3-4):267-70. [PubMed ]
4. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed ]
5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]

1. I-beta-1,3-N-acetylglucosaminyltransferase
2. iGnT
3. Poly-N-acetyllactosamine extension enzyme
4. UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1

MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVK
AQLRTALASGGVLDASGDYRVYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPL
SVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCPSRYEAAVPDPREPGEFALLR
SCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGL
REMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTN
YSRWVNLPEESLLRPAYVVPWQDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAG
FDFEVLNEGFLVHKGFKEALKFHPQKEAENQHNKILYRQFKQELKAKYPNSPRRC

• Blood group glycolipid biosynthesis-neolactoseries (map00602 )
• Keratan sulfate biosynthesis (map00533 )

• UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N- acetyl-D-glucosaminyl-R [RN:R02789]

• None

• 9-36

ATGCAGATGTCCTACGCCATCCGGTGCGCCTTCTACCAGCTGCTGCTGGCCGCGCTCATG
CTGGTGGCGATGCTGCAGCTGCTCTACCTGTCGCTGCTGTCCGGACTGCACGGGCAGGAG
GAGCAAGACCAATATTTTGAGTTCTTTCCCCCGTCCCCACGGTCCGTGGACCAGGTCAAG
GCGCAGCTCCGCACCGCGCTGGCCTCTGGAGGCGTCCTGGACGCTAGCGGCGATTACCGC
GTCTACAGGGGCCTGCTGAAGACCACCATGGACCCCAACGATGTGATCCTGGCCACGCAC
GCCAGCGTGGACAACCTGCTGCACCTGTCGGGTCTGCTGGAGCGCTGGGAGGGCCCGCTG
TCCGTGTCGGTGTTCGCGGCCACCAAGGAGGAGGCGCAGCTGGCCACGGTGCTGGCCTAC
GCGCTGAGCAGCCACTGCCCCGACATGCGCGCCAGGGTCGCCATGCACCTCGTGTGCCCC
TCGCGTTACGAGGCAGCCGTGCCCGACCCCCGGGAGCCGGGGGAGTTTGCCCTGCTGCGG
TCCTGCCAGGAGGTCTTTGACAAGCTAGCCAGGGTGGCCCAGCCCGGGATTAATTATGCG
CTGGGCACCAATGTCTCCTACCCCAATAACCTGCTGAGGAATCTGGCTCGTGAGGGGGCC
AACTATGCCCTGGTGATCGATGTGGACATGGTGCCCAGCGAGGGGCTGTGGAGAGGCCTG
CGGGAAATGCTGGATCAGAGCAACCAGTGGGGAGGCACCGCGCTGGTGGTGCCTGCCTTC
GAAATCCGAAGAGCCCGCCGCATGCCCATGAACAAAAACGAGCTGGTGCAGCTCTACCAG
GTTGGCGAGGTGCGGCCCTTCTATTATGGGTTGTGCACCCCCTGCCAGGCACCCACCAAC
TATTCCCGCTGGGTCAACCTGCCGGAAGAGAGCTTGCTGCGGCCCGCCTACGTGGTACCT
TGGCAGGACCCCTGGGAGCCATTCTACGTGGCAGGAGGCAAGGTGCCCACCTTCGACGAG
CGCTTTCGGCAGTACGGCTTCAACCGAATCAGCCAGGCCTGCGAGCTGCATGTGGCGGGG
TTTGATTTTGAGGTCCTGAACGAAGGTTTCTTGGTTCATAAGGGCTTCAAAGAAGCGTTG
AAGTTCCATCCCCAAAAGGAGGCTGAAAATCAGCACAATAAGATCCTATATCGCCAGTTC
AAACAGGAGTTGAAGGCCAAGTACCCCAACTCTCCCCGACGCTGCTGA

1. Sasaki K, Kurata-Miura K, Ujita M, Angata K, Nakagawa S, Sekine S, Nishi T, Fukuda M: Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis. Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14294-9. [PubMed ]
2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]

1. Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase
2. GlcNAc-T V
3. GNT-V
4. Mannoside acetylglucosaminyltransferase 5
5. N-acetylglucosaminyl-transferase V

MALFTPWKLSSQKLGFFLVTFGFIWGMMLLHFTIQQRTQPESSSMLREQILDLSKRYIKA
LAEENRNVVDGPYAGVMTAYDLKKTLAVLLDNILQRIGKLESKVDNLVVNGTGTNSTNST
TAVPSLVALEKINVADIINGAQEKCVLPPMDGYPHCEGKIKWMKDMWRSDPCYADYGVDG
STCSFFIYLSEVENWCPHLPWRAKNPYEEADHNSLAEIRTDFNILYSMMKKHEEFRWMRL
RIRRMADAWIQAIKSLAEKQNLEKRKRKKVLVHLGLLTKESGFKIAETAFSGGPLGELVQ
WSDLITSLYLLGHDIRISASLAELKEIMKKVVGNRSGCPTVGDRIVELIYIDIVGLAQFK
KTLGPSWVHYQCMLRVLDSFGTEPEFNHANYAQSKGHKTPWGKWNLNPQQFYTMFPHTPD
NSFLGFVVEQHLNSSDIHHINEIKRQNQSLVYGKVDSFWKNKKIYLDIIHTYMEVHATVY
GSSTKNIPSYVKNHGILSGRDLQFLLRETKLFVGLGFPYEGPAPLEAIANGCAFLNPKFN
PPKSSKNTDFFIGKPTLRELTSQHPYAEVFIGRPHVWTVDLNNQEEVEDAVKAILNQKIE
PYMPYEFTCEGMLQRINAFIEKQDFCHGQVMWPPLSALQVKLAEPGQSCKQVCQESQLIC
EPSFFQHLNKDKDMLKYKVTCQSSELAKDILVPSFDPKNKHCVFQGDLLLFSCAGAHPRH
QRVCPCRDFIKGQVALCKDCL

• N-Glycan biosynthesis (map00510 )

• UDP-N-acetyl-D-glucosamine + 6-(2-[N-acetyl-beta-D-glucosaminyl]-alpha-D-mannosyl)-beta-D- mannosyl-R = UDP + 6-(2,6-bis[N-acetyl-beta-D-glucosaminyl]-alpha-D-mannosyl)-beta-D- mannosyl-R [RN:R04665]

• None

• 14-30

ATGGCTCTCTTCACTCCGTGGAAGTTGTCCTCTCAGAAGCTGGGCTTTTTCCTGGTGACT
TTTGGCTTCATTTGGGGTATGATGCTTCTGCACTTTACCATCCAGCAGCGAACTCAGCCT
GAAAGCAGCTCCATGCTGCGCGAGCAGATCCTGGACCTCAGCAAAAGGTACATCAAGGCA
CTGGCAGAAGAAAACAGGAATGTGGTGGATGGGCCATACGCTGGAGTCATGACAGCTTAT
GATCTGAAGAAAACCCTTGCTGTGTTATTAGATAACATTTTGCAGCGCATTGGCAAGTTG
GAGTCGAAGGTGGACAATCTTGTTGTCAATGGCACCGGAACAAACTCAACCAACTCCACT
ACAGCTGTTCCCAGCTTGGTTGCACTTGAGAAAATTAATGTGGCAGATATCATTAACGGA
GCTCAAGAAAAATGTGTATTGCCTCCTATGGACGGCTACCCTCACTGTGAGGGAAAGATC
AAGTGGATGAAAGACATGTGGCGTTCAGATCCCTGCTACGCAGACTATGGAGTGGATGGA
TCCACCTGCTCTTTTTTTATTTACCTCAGTGAGGTTGAAAATTGGTGTCCTCATTTACCT
TGGAGAGCAAAAAATCCCTACGAAGAAGCTGATCATAATTCATTGGCGGAAATTCGTACA
GATTTTAATATTCTCTACAGTATGATGAAAAAGCATGAAGAATTCCGGTGGATGAGACTA
CGGATCCGGCGAATGGCTGACGCATGGATCCAAGCAATCAAGTCCCTGGCAGAAAAGCAG
AACCTTGAAAAGAGAAAGCGGAAGAAAGTCCTCGTTCACCTGGGACTCCTGACCAAGGAA
TCTGGATTTAAGATTGCAGAGACAGCTTTCAGTGGTGGCCCTCTTGGTGAATTAGTTCAA
TGGAGTGATTTAATTACATCTCTGTACTTACTGGGCCATGACATTAGGATTTCAGCTTCA
CTGGCTGAGCTCAAGGAAATCATGAAGAAGGTTGTAGGAAACCGATCTGGCTGCCCAACT
GTAGGAGACAGAATTGTTGAGCTCATTTACATTGATATTGTAGGACTTGCTCAATTCAAG
AAAACTCTTGGACCATCCTGGGTTCATTACCAGTGCATGCTCCGAGTGCTGGATTCCTTT
GGAACAGAACCTGAGTTCAATCACGCAAATTATGCCCAATCGAAAGGCCACAAGACCCCT
TGGGGAAAATGGAATCTGAACCCTCAGCAGTTTTATACCATGTTCCCTCATACCCCAGAC
AACAGCTTTCTGGGGTTTGTGGTTGAGCAGCACCTGAACTCCAGTGATATCCACCACATT
AATGAAATCAAAAGGCAGAACCAGTCCCTTGTGTATGGCAAAGTGGATAGCTTCTGGAAG
AATAAGAAGATCTACTTGGACATTATTCACACATACATGGAAGTGCATGCAACTGTTTAT
GGCTCCAGCACAAAGAATATTCCCAGTTACGTGAAAAACCATGGTATCCTCAGTGGACGG
GACCTGCAGTTCCTTCTTCGAGAAACCAAGTTGTTTGTTGGACTTGGGTTCCCTTACGAG
GGCCCAGCTCCCCTGGAAGCTATCGCAAATGGATGTGCTTTTCTGAATCCCAAGTTCAAC
CCACCCAAAAGCAGCAAAAACACAGACTTCTTCATTGGCAAGCCAACACTGAGAGAGCTC
ACATCCCAGCATCCTTACGCTGAAGTTTTCATCGGGCGGCCACATGTGTGGACTGTTGAC
CTCAACAATCAGGAGGAAGTAGAGGATGCAGTGAAAGCCATCTTAAACCAGAAGATTGAG
CCATACATGCCATATGAATTTACGTGCGAGGGGATGCTACAGAGAATCAATGCTTTCATT
GAAAAACAGGACTTCTGCCATGGGCAAGTGATGTGGCCACCCCTCAGCGCCCTACAGGTC
AAGCTTGCTGAGCCCGGGCAGTCCTGCAAGCAGGTGTGCCAGGAGAGCCAGCTCATCTGC
GAGCCTTCTTTCTTCCAGCACCTCAACAAGGACAAGGACATGCTGAAGTACAAGGTGACC
TGCCAAAGCTCAGAGCTGGCCAAGGACATCCTGGTGCCCTCCTTTGACCCTAAGAATAAG
CACTGTGTGTTTCAAGGTGACCTCCTGCTCTTCAGCTGTGCAGGCGCCCACCCCAGGCAC
CAGAGGGTCTGCCCCTGCCGGGACTTCATCAAGGGCCAGGTGGCTCTCTGCAAAGACTGC
CTATAG

1. Saito H, Nishikawa A, Gu J, Ihara Y, Soejima H, Wada Y, Sekiya C, Niikawa N, Taniguchi N: cDNA cloning and chromosomal mapping of human N-acetylglucosaminyltransferase V+. Biochem Biophys Res Commun. 1994 Jan 14;198(1):318-27. [PubMed ]
2. Park C, Jin UH, Lee YC, Cho TJ, Kim CH: Characterization of UDP-N-acetylglucosamine:alpha-6-d-mannoside beta-1,6-N-acetylglucosaminyltransferase V from a human hepatoma cell line Hep3B. Arch Biochem Biophys. 1999 Jul 15;367(2):281-8. [PubMed ]

1. Hyaluronate synthase 3
2. Hyaluronic acid synthase 3
3. HA synthase 3

MPVQLTTALRVVGTSLFALAVLGGILAAYVTGYQFIHTEKHYLSFGLYGAILGLHLLIQS
LFAFLEHRRMRRAGQALKLPSPRRGSVALCIAAYQEDPDYLRKCLRSAQRISFPDLKVVM
VVDGNRQEDAYMLDIFHEVLGGTEQAGFFVWRSNFHEAGEGETEASLQEGMDRVRDVVRA
STFSCIMQKWGGKREVMYTAFKALGDSVDYIQVCDSDTVLDPACTIEMLRVLEEDPQVGG
VGGDVQILNKYDSWISFLSSVRYWMAFNVERACQSYFGCVQCISGPLGMYRNSLLQQFLE
DWYHQKFLGSKCSFGDDRHLTNRVLSLGYRTKYTARSKCLTETPTKYLRWLNQQTRWSKS
YFREWLYNSLWFHKHHLWMTYESVVTGFFPFFLIATVIQLFYRGRIWNILLFLLTVQLVG
IIKATYACFLRGNAEMIFMSLYSLLYMSSLLPAKIFAIATINKSGWGTSGRKTIVVNFIG
LIPVSIWVAVLLGGLAYTAYCQDLFSETELAFLVSGAILYGCYWVALLMLYLAIIARRCG
KKPEQYSLAFAEV

• (1) UDP-alpha-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)- [nascent hyaluronan] = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N- acetyl-beta-D-glucosaminyl-(1->4)-[nascent hyaluronan] [RN:R05327 R06068]
• (2) UDP-alpha-D-glucuronate + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)- [nascent hyaluronan] = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-beta- D-glucuronosyl-(1->3)-[nascent hyaluronan]

• Chitin_synth_2 (PF03142 )

• None

• 16-36 45-65 378-398 409-429 441-461 474-494 516-536

ATGCCGGTGCAGCTGACGACAGCCCTGCGTGTGGTGGGCACCAGCCTGTTTGCCCTGGCA
GTGCTGGGTGGCATCCTGGCAGCCTATGTGACGGGCTACCAGTTCATCCACACGGAAAAG
CACTACCTGTCCTTCGGCCTGTACGGCGCCATCCTGGGCCTGCACCTGCTCATTCAGAGC
CTTTTTGCCTTCCTGGAGCACCGGCGCATGCGACGTGCCGGCCAGGCCCTGAAGCTGCCC
TCCCCGCGGCGGGGCTCGGTGGCACTGTGCATTGCCGCATACCAGGAGGACCCTGACTAC
TTGCGCAAGTGCCTGCGCTCGGCCCAGCGCATCTCCTTCCCTGACCTCAAGGTGGTCATG
GTGGTGGATGGCAACCGCCAGGAGGACGCCTACATGCTGGACATCTTCCACGAGGTGCTG
GGCGGCACCGAGCAGGCCGGCTTCTTTGTGTGGCGCAGCAACTTCCATGAGGCAGGCGAG
GGTGAGACGGAGGCCAGCCTGCAGGAGGGCATGGACCGTGTGCGGGATGTGGTGCGGGCC
AGCACCTTCTCGTGCATCATGCAGAAGTGGGGAGGCAAGCGCGAGGTCATGTACACGGCC
TTCAAGGCCCTCGGCGATTCGGTGGACTACATCCAGGTGTGCGACTCTGACACTGTGCTG
GATCCAGCCTGCACCATCGAGATGCTTCGAGTCCTGGAGGAGGATCCCCAAGTAGGGGGA
GTCGGGGGAGATGTCCAGATCCTCAACAAGTACGACTCATGGATTTCCTTCCTGAGCAGC
GTGCGGTACTGGATGGCCTTCAACGTGGAGCGGGCCTGCCAGTCCTACTTTGGCTGTGTG
CAGTGTATTAGTGGGCCCTTGGGCATGTACCGCAACAGCCTCCTCCAGCAGTTCCTGGAG
GACTGGTACCATCAGAAGTTCCTAGGCAGCAAGTGCAGCTTCGGGGATGACCGGCACCTC
ACCAACCGAGTCCTGAGCCTTGGCTACCGAACTAAGTATACCGCGCGCTCCAAGTGCCTC
ACAGAGACCCCCACTAAGTACCTCCGGTGGCTCAACCAGCAAACCCGCTGGAGCAAGTCT
TACTTCCGGGAGTGGCTCTACAACTCTCTGTGGTTCCATAAGCACCACCTCTGGATGACC
TACGAGTCAGTGGTCACGGGTTTCTTCCCCTTCTTCCTCATTGCCACGGTTATACAGCTT
TTCTACCGGGGCCGCATCTGGAACATTCTCCTCTTCCTGCTGACGGTGCAGCTGGTGGGC
ATTATCAAGGCCACCTACGCCTGCTTCCTTCGGGGCAATGCAGAGATGATCTTCATGTCC
CTCTACTCCCTCCTCTATATGTCCAGCCTTCTGCCGGCCAAGATCTTTGCCATTGCTACC
ATCAACAAATCTGGCTGGGGCACCTCTGGCCGAAAAACCATTGTGGTGAACTTCATTGGC
CTCATTCCTGTGTCCATCTGGGTGGCAGTTCTCCTGGAGGGGCTGGCCTACACAGCTTAT
TGCCAGGACCTGTTCAGTGAGACAGAGCTAGCCTTCCTTGTCTCTGGGGCTATACTGTAT
GGCTGCTACTGGGTGGCCCTCCTCATGCTATATCTGGCCATCATCGCCCGGCGATGTGGG
AAGAAGCCGGAGCAGTACAGCTTGGCTTTTGCTGAGGTGTGA

1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
2. Spicer AP, Olson JS, McDonald JA: Molecular cloning and characterization of a cDNA encoding the third putative mammalian hyaluronan synthase. J Biol Chem. 1997 Apr 4;272(14):8957-61. [PubMed ]

1. N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III
2. GNT-III
3. GlcNAc-T III
4. N-acetylglucosaminyltransferase III

MKMRRYKLFLMFCMAGLCLISFLHFFKTLSYVTFPRELASLSPNLVSSFFWNNAPVTPQA
SPEPGGPDLLRTPLYSHSPLLQPLPPSKAAEELHRVDLVLPEDTTEYFVRTKAGGVCFKP
GTKMLERPPPGRPEEKPEGANGSSARRPPRYLLSARERTGGRGARRKWVECVCLPGWHGP
SCGVPTVVQYSNLPTKERLVPREVPRRVINAINVNHEFDLLDVRFHELGDVVDAFVVCES
NFTAYGEPRPLKFREMLTNGTFEYIRHKVLYVFLDHFPPGGRQDGWIADDYLRTFLTQDG
VSRLRNLRPDDVFIIDDADEIPARDGVLFLKLYDGWTEPFAFHMRKSLYGFFWKQPGTLE
VVSGCTVDMLQAVYGLDGIRLRRRQYYTMPNFRQYENRTGHILVQWSLGSPLHFAGWHCS
WCFTPEGIYFKLVSAQNGDFPRWGDYEDKRDLNYIRGLIRTGGWFDGTQQEYPPADPSEH
MYAPKYLLKNYDRFHYLLDNPYQEPRSTAAGGWRHRGPEGRPPARGKLDEAEV

• N-Glycan biosynthesis (map00510 )

• UDP-N-acetyl-D-glucosamine + beta-D-mannosyl-R = UDP + 4-(N-acetyl-beta-D-glucosaminyl)-beta-D-mannosyl-R [RN:R07259]

• Glyco_transf_17 (PF04724 )

• None

• 8-23

ATGAAGATGAGACGCTACAAGCTCTTTCTCATGTTCTGTATGGCCGGCCTGTGCCTCATC
TCCTTCCTGCACTTCTTCAAGACCCTGTCCTATGTCACCTTCCCCCGAGAACTGGCCTCC
CTCAGCCCTAACCTGGTGTCCAGCTTTTTCTGGAACAATGCCCCGGTCACGCCCCAGGCC
AGCCCCGAGCCAGGAGGCCCTGACCTGCTGCGTACCCCACTCTACTCCCACTCGCCCCTG
CTGCAGCCGCTGCCGCCCAGCAAGGCGGCCGAGGAGCTCCACCGGGTGGACTTGGTGCTG
CCCGAGGACACCACCGAGTATTTCGTGCGCACCAAGGCCGGCGGCGTCTGCTTCAAACCC
GGCACCAAGATGCTGGAGAGGCCGCCCCCGGGACGGCCGGAGGAGAAGCCTGAGGGGGCC
AACGGCTCCTCGGCCCGGCGGCCACCCCGGTACCTCCTGAGCGCCCGGGAGCGCACGGGG
GGCCGAGGCGCCCGGCGCAAGTGGGTGGAGTGCGTGTGCCTGCCCGGCTGGCACGGACCC
AGCTGCGGCGTGCCCACTGTGGTGCAGTACTCCAACCTGCCCACCAAGGAGCGGCTGGTG
CCCAGGGAGGTGCCGCGCCGCGTCATCAACGCCATCAACGTCAACCACGAGTTCGACCTG
CTGGACGTGCGCTTCCACGAGCTGGGCGACGTGGTGGACGCCTTTGTGGTGTGCGAGTCC
AACTTCACGGCTTATGGGGAGCCGCGGCCGCTCAAGTTCCGGGAGATGCTGACCAATGGC
ACCTTCGAGTACATCCGCCACAAGGTGCTCTATGTCTTCCTGGACCACTTCCCGCCCGGC
GGCCGGCAGGACGGCTGGATCGCCGACGACTACCTGCGCACCTTCCTCACCCAGGACGGC
GTCTCGCGGCTGCGCAACCTGCGGCCCGACGACGTCTTCATCATTGACGATGCGGACGAG
ATCCCGGCCCGTGACGGCGTCCTTTTCCTCAAGCTCTACGATGGCTGGACCGAGCCCTTC
GCCTTCCACATGCGCAAGTCGCTCTACGGCTTCTTCTGGAAGCAGCCGGGCACCCTGGAG
GTGGTGTCAGGCTGCACGGTGGACATGCTGCAGGCAGTGTATGGGCTGGACGGCATCCGC
CTGCGCCGCCGCCAGTACTACACCATGCCCAACTTCAGACAGTATGAGAACCGCACCGGC
CACATCCTGGTGCAGTGGTCGCTGGGCAGCCCCCTGCACTTCGCCGGCTGGCACTGCTCC
TGGTGCTTCACGCCCGAGGGCATCTACTTCAAGCTCGTGTCCGCCCAGAATGGCGACTTC
CCACGCTGGGGTGACTACGAGGACAAGCGGGACCTGAACTACATCCGCGGCCTGATCCGC
ACCGGGGGCTGGTTCGACGGCACGCAGCAGGAGTACCCGCCTGCAGACCCCAGCGAGCAC
ATGTATGCGCCCAAGTACCTGCTGAAGAACTACGACCGGTTCCACTACCTGCTGGACAAC
CCCTACCAGGAGCCCAGGAGCACGGCGGCGGGCGGGTGGCGCCACAGGGGTCCCGAGGGA
AGGCCGCCCGCCCGGGGCAAACTGGACGAGGCGGAAGTCTAG

1. Ihara Y, Nishikawa A, Tohma T, Soejima H, Niikawa N, Taniguchi N: cDNA cloning, expression, and chromosomal localization of human N-acetylglucosaminyltransferase III (GnT-III). J Biochem (Tokyo). 1993 Jun;113(6):692-8. [PubMed ]
2. Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I: A genome annotation-driven approach to cloning the human ORFeome. Genome Biol. 2004;5(10):R84. Epub 2004 Sep 30. [PubMed ]
3. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al.: The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. [PubMed ]
4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]

1. Hyaluronate synthase 2
2. Hyaluronic acid synthase 2
3. HA synthase 2

MHCERFLCILRIIGTTLFGVSLLLGITAAYIVGYQFIQTDNYYFSFGLYGAFLASHLIIQ
SLFAFLEHRKMKKSLETPIKLNKTVALCIAAYQEDPDYLRKCLQSVKRLTYPGIKVVMVI
DGNSEDDLYMMDIFSEVMGRDKSATYIWKNNFHEKGPGETDESHKESSQHVTQLVLSNKS
ICIMQKWGGKREVMYTAFRALGRSVDYVQVCDSDTMLDPASSVEMVKVLEEDPMVGGVGG
DVQILNKYDSWISFLSSVRYWMAFNIERACQSYFGCVQCISGPLGMYRNSLLHEFVEDWY
NQEFMGNQCSFGDDRHLTNRVLSLGYATKYTARSKCLTETPIEYLRWLNQQTRWSKSYFR
EWLYNAMWFHKHHLWMTYEAIITGFFPFFLIATVIQLFYRGKIWNILLFLLTVQLVGLIK
SSFASCLRGNIVMVFMSLYSVLYMSSLLPAKMFAIATINKAGWGTSGRKTIVVNFIGLIP
VSVWFTILLGGVIFTIYKESKRPFSESKQTVLIVGTLLYACYWVMLLTLYVVLINKCGRR
KKGQQYDMVLDV

• (1) UDP-alpha-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)- [nascent hyaluronan] = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N- acetyl-beta-D-glucosaminyl-(1->4)-[nascent hyaluronan] [RN:R05327 R06068]
• (2) UDP-alpha-D-glucuronate + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)- [nascent hyaluronan] = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-beta- D-glucuronosyl-(1->3)-[nascent hyaluronan]

• Chitin_synth_2 (PF03142 )
• Glycos_transf_2 (PF00535 )

• None

• 12-32 46-66 375-395 403-423 430-450 476-496 511-531

ATGCATTGTGAGAGGTTTCTATGTATCCTGAGAATAATTGGAACCACACTCTTTGGAGTC
TCTCTCCTCCTTGGAATCACAGCTGCTTATATTGTTGGCTACCAGTTTATCCAAACGGAT
AATTACTATTTCTCTTTTGGACTGTATGGTGCCTTTTTGGCATCACACCTCATCATCCAA
AGCCTGTTTGCCTTTTTGGAGCACCGAAAAATGAAAAAATCCCTAGAAACCCCCATAAAG
TTGAACAAAACAGTTGCCCTTTGCATCGCTGCCTATCAAGAAGATCCAGACTACTTAAGG
AAATGTTTGCAATCTGTGAAAAGGCTAACCTACCCTGGGATTAAAGTTGTCATGGTCATA
GATGGGAACTCAGAAGATGACCTTTACATGATGGACATCTTCAGTGAAGTCATGGGCAGA
GACAAATCAGCCACTTATATCTGGAAGAACAACTTCCACGAAAAGGGTCCCGGTGAGACA
GATGAGTCACATAAAGAAAGCTCGCAACACGTAACGCAATTGGTCTTGTCCAACAAAAGT
ATCTGCATCATGCAAAAATGGGGTGGAAAAAGAGAAGTCATGTACACAGCCTTCAGAGCA
CTGGGACGAAGTGTGGATTATGTACAGGTTTGTGATTCAGACACTATGCTTGACCCAGCC
TCATCTGTGGAGATGGTAAAAGTTTTAGAAGAAGATCCCATGGTTGGAGGTGTTGGGGGA
GATGTCCAGATTTTAAACAAGTACGATTCCTGGATCTCATTCCTCAGCAGTGTAAGATAT
TGGATGGCTTTTAATATAGAAAGGGCCTGTCAGTCTTATTTTGGGTGTGTTCAGTGCATT
AGTGGACCTCTGGGAATGTACAGAAACTCCTTGTTGCATGAGTTTGTGGAAGATTGGTAC
AATCAAGAATTTATGGGCAACCAATGTAGCTTTGGTGATGACAGGCATCTCACGAACCGG
GTGCTGAGCCTGGGCTATGCAACAAAATACACAGCTCGATCTAAGTGCCTTACTGAAACA
CCTATAGAATATCTCAGATGGCTAAACCAGCAGACCCGTTGGAGCAAGTCCTACTTCCGA
GAATGGCTGTACAATGCAATGTGGTTTCACAAACATCACTTGTGGATGACCTACGAAGCG
ATTATCACTGGATTCTTTCCTTTCTTTCTCATTGCCACAGTAATCCAGCTCTTCTACCGG
GGTAAAATTTGGAACATTCTCCTCTTCTTGTTAACTGTCCAGCTAGTAGGTCTCATAAAA
TCATCTTTTGCCAGCTGCCTTAGAGGAAATATCGTCATGGTCTTCATGTCTCTCTACTCA
GTGTTATACATGTCGAGTTTACTTCCCGCCAAGATGTTTGCAATTGCAACAATAAACAAA
GCTGGGTGGGGCACATCAGGAAGGAAAACCATTGTTGTTAATTTCATAGGACTCATTCCA
GTATCAGTTTGGTTTACAATCCTCCTGGGTGGTGTGATTTTCACCATTTATAAGGAGTCT
AAAAGGCCATTTTCAGAATCCAAACAGACAGTTCTAATTGTTGGAACGTTGCTCTATGCA
TGCTATTGGGTCATGCTTTTGACGCTGTATGTAGTTCTCATCAATAAGTGTGGCAGGCGG
AAGAAGGGACAACAATATGACATGGTGCTTGATGTATGA

1. Watanabe K, Yamaguchi Y: Molecular identification of a putative human hyaluronan synthase. J Biol Chem. 1996 Sep 20;271(38):22945-8. [PubMed ]
2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
3. Morerio C, Rapella A, Rosanda C, Tassano E, Gambini C, Romagnoli G, Panarello C: PLAG1-HAS2 fusion in lipoblastoma with masked 8q intrachromosomal rearrangement. Cancer Genet Cytogenet. 2005 Jan 15;156(2):183-4. [PubMed ]

1. N-acetylglucosaminyltransferase
2. I-branching enzyme
3. IGNT

MPLSMRYLFIISVSSVIIFIVFSVFNFGGDPSFQRLNISDPLRLTQVCTSFINGKTRFLW
KNKLMIHEKSSCKEYLTQSHYITAPLSKEEADFPLAYIMVIHHHFDTFARLFRAIYMPQN
IYCVHVDEKATTEFKDAVEQLLSCFPNAFLASKMEPVVYGGISRLQADLNCIRDLSAFEV
SWKYVINTCGQDFPLKTNKEIVQYLKGFKGKNITPGVLPPAHAIGRTKYVHQEHLGKELS
YVIRTTALKPPPPHNLTIYFGSAYVALSREFANFVLHDPRAVDLLQWSKDTFSPDEHFWV
TLNRIPGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPS
LFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF

• Blood group glycolipid biosynthesis-neolactoseries (map00602 )

• UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-(1->6)-beta-D-galactosyl-(1->4)-N- acetyl-D-glucosaminyl-R [RN:R02790]

• Branch (PF02485 )

• None

• 7-25

ATGCCTTTATCAATGCGTTACCTCTTCATAATTTCTGTCTCTAGTGTAATTATTTTTATC
GTCTTCTCTGTGTTCAATTTTGGGGGAGATCCAAGCTTCCAAAGGCTAAATATCTCAGAC
CCTTTGAGGCTGACTCAAGTTTGCACATCTTTTATCAATGGAAAAACACGTTTCCTGTGG
AAAAACAAACTAATGATCCATGAGAAGTCTTCTTGCAAGGAATACTTGACCCAGAGCCAC
TACATCACAGCCCCTTTATCTAAGGAAGAAGCTGACTTTCCCTTGGCATATATAATGGTC
ATCCATCATCACTTTGACACCTTTGCAAGGCTCTTCAGGGCTATTTACATGCCCCAAAAT
ATCTACTGTGTTCATGTGGATGAAAAAGCAACAACTGAATTTAAAGATGCGGTAGAGCAA
CTATTAAGCTGCTTCCCAAACGCTTTTCTGGCTTCCAAGATGGAACCCGTTGTCTATGGA
GGGATCTCCAGGCTCCAGGCTGACCTGAACTGCATCAGAGATCTTTCTGCCTTCGAGGTC
TCATGGAAGTACGTTATCAACACCTGTGGGCAAGACTTCCCCCTGAAAACCAACAAGGAA
ATAGTTCAGTATCTGAAAGGATTTAAAGGTAAAAATATCACCCCAGGGGTGCTGCCCCCA
GCTCATGCAATTGGACGGACTAAATATGTCCACCAAGAGCACCTGGGCAAAGAGCTTTCC
TATGTGATAAGAACAACAGCGTTGAAACCGCCTCCCCCCCATAATCTCACAATTTACTTT
GGCTCTGCCTATGTGGCTCTATCAAGAGAGTTTGCCAACTTTGTTCTGCATGACCCACGG
GCTGTTGATTTGCTCCAGTGGTCCAAGGACACTTTCAGTCCTGATGAGCATTTCTGGGTG
ACACTCAATAGGATTCCAGGTGTTCCTGGCTCTATGCCAAATGCATCCTGGACTGGAAAC
CTCAGAGCTATAAAGTGGAGTGACATGGAAGACAGACACGGAGGCTGCCACGGCCACTAT
GTACATGGTATTTGTATCTATGGAAACGGAGACTTAAAGTGGCTGGTTAATTCACCAAGC
CTGTTTGCTAACAAGTTTGAGCTTAATACCTACCCCCTTACTGTGGAATGCCTAGAACTG
AGGCATCGCGAAAGAACCCTCAATCAGAGTGAAACTGCGATACAACCCAGCTGGTATTTT
TGA

1. Bierhuizen MF, Mattei MG, Fukuda M: Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family. Genes Dev. 1993 Mar;7(3):468-78. [PubMed ]
2. Bierhuizen MF, Maemura K, Kudo S, Fukuda M: Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family. Glycobiology. 1995 Jun;5(4):417-25. [PubMed ]
3. Yu LC, Twu YC, Chou ML, Reid ME, Gray AR, Moulds JM, Chang CY, Lin M: The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts. Blood. 2003 Mar 15;101(6):2081-8. Epub 2002 Nov 7. [PubMed ]
4. Zhang T, Haws P, Wu Q: Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation. Genome Res. 2004 Jan;14(1):79-89. Epub 2003 Dec 12. [PubMed ]
5. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
6. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed ]
7. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
8. Sasaki K, Kurata-Miura K, Ujita M, Angata K, Nakagawa S, Sekine S, Nishi T, Fukuda M: Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis. Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14294-9. [PubMed ]

1. Golgi UDP-GlcNAc transporter
2. Solute carrier family 35 member A3

MFANLKYVSLGILVFQTTSLVLTMRYSRTLKEEGPRYLSSTAVVVAELLKIMACILLVYK
DSKCSLRALNRVLHDEILNKPMETLKLAIPSGIYTLQNNLLYVALSNLDAATYQVTYQLK
ILTTALFSVSMLSKKLGVYQWLSLVILMTGVAFVQWPSDSQLDSKELSAGSQFVGLMAVL
TACFSSGFAGVYFEKILKETKQSVWIRNIQLGFFGSIFGLMGVYIYDGELVSKNGFFQGY
NRLTWIVVVLQALGGLVIAAVIKYADNILKGFATSLSIILSTLISYFWLQDFVPTSVFFL
GAILVITATFLYGYDPKPAGNPTKA

• Nuc_sug_transp (PF04142 )

• None

• 8-24 42-58 138-154 173-189 209-225 246-262 268-284 295-311

ATGTTCGCCAACCTAAAATACGTTTCCCTGGGAATTTTGGTCTTTCAGACTACCAGTTTG
GTTCTAACAATGCGTTATTCCAGAACTTTAAAAGAAGAAGGACCTCGTTATCTATCTTCT
ACAGCAGTGGTTGTTGCTGAACTTTTGAAGATAATGGCCTGCATTTTATTGGTCTACAAA
GACAGCAAATGTAGTCTAAGAGCACTGAATCGAGTACTACATGATGAAATTCTTAATAAA
CCTATGGAAACACTTAAACTTGCTATTCCATCAGGGATCTATACTCTTCAGAATAATTTA
CTGTATGTGGCACTATCAAATCTAGATGCAGCTACTTATCAGGTCACGTATCAGTTAAAA
ATTCTTACAACAGCATTATTTTCTGTGTCTATGCTTAGTAAAAAATTGGGTGTATACCAG
TGGCTGTCCCTAGTAATTTTGATGACAGGAGTTGCTTTTGTACAGTGGCCCTCAGATTCT
CAGCTTGATTCTAAGGAACTTTCAGCTGGTTCTCAATTTGTAGGACTCATGGCAGTTCTC
ACAGCATGTTTTTCAAGTGGCTTTGCTGGGGTTTACTTTGAGAAAATCTTAAAAGAAACA
AAACAATCAGTGTGGATAAGAAATATTCAGCTTGGTTTCTTTGGAAGTATATTTGGATTA
ATGGGTGTATACATTTATGATGGAGAACTGGTATCAAAGAATGGATTTTTTCAGGGATAT
AACCGACTGACCTGGATAGTAGTTGTTCTTCAGGCACTTGGAGGCCTTGTAATAGCTGCT
GTTATTAAGTATGCAGATAATATTTTAAAAGGATTTGCAACCTCTTTATCGATAATATTA
TCAACATTGATCTCCTATTTTTGGCTTCAAGATTTTGTGCCAACCAGTGTCTTTTTCCTT
GGAGCCATCCTTGTAATAACAGCTACTTTTTTGTATGGTTATGATCCCAAACCTGCAGGA
AATCCCACTAAAGCATAG

1. Ishida N, Yoshioka S, Chiba Y, Takeuchi M, Kawakita M: Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter. J Biochem. 1999 Jul;126(1):68-77. [PubMed ]
2. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
3. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed ]

1. SubName: Putative uncharacterized protein B3GNT1
2. SubName: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1, isoform CRA_a

MSVGRRRIKLLGILMMANVFIYFIMEVSKSSSQEKNGKGEVIIPKEKFWKISTPPEAYWN
REQEKLNRQYNPILSMLTNQTGEAGRLSNISHLNYCEPDLRVTSVVTGFNNLPDRFKDFL
LYLRCRNYSLLIDQPDKCAKKPFLLLAIKSLTPHFARRQAIRESWGQESNAGNQTVVRVF
LLGQTPPEDNHPDLSDMLKFESEKHQDILMWNYRDTFFNLSLKEVLFLRWVSTSCPDTEF
VFKGDDDVFVNTHHILNYLNSLSKTKAKDLFIGDVIHNAGPHRDKKLKYYIPEVVYSGLY
PPYAGGGGFLYSGHLALRLYHITDQVHLYPIDDVYTGMCLQKLGLVPEKHKGFRTFDIEE
KNKNNICSYVDLMLVHSRKPQEMIDIWSQLQSAHLKC

• Galactosyl_T (PF01762 )

• None

• None

ATGAGTGTTGGACGTCGAAGAATAAAGTTGTTGGGTATCCTGATGATGGCAAATGTCTTC
ATTTATTTTATTATGGAAGTCTCCAAAAGCAGTAGCCAAGAAAAAAATGGAAAAGGGGAA
GTAATAATACCCAAAGAGAAGTTCTGGAAGATATCTACCCCTCCCGAGGCATACTGGAAC
CGAGAGCAAGAGAAGCTGAACCGGCAGTACAACCCCATCCTGAGCATGCTGACCAACCAG
ACGGGGGAGGCGGGCAGGCTCTCCAATATAAGCCATCTGAACTACTGCGAACCTGACCTG
AGGGTCACGTCGGTGGTTACGGGTTTTAACAACTTGCCGGACAGATTTAAAGACTTTCTG
CTGTATTTGAGATGCCGCAATTATTCACTGCTTATAGATCAGCCGGATAAGTGTGCAAAG
AAACCTTTCTTGTTGCTGGCGATTAAGTCCCTCACTCCACATTTTGCCAGAAGGCAAGCA
ATCCGGGAATCCTGGGGCCAAGAAAGCAACGCAGGGAACCAAACGGTGGTGCGAGTCTTC
CTGCTGGGCCAGACACCCCCAGAGGACAACCACCCCGACCTTTCAGATATGCTGAAATTT
GAGAGTGAGAAGCACCAAGACATTCTTATGTGGAACTACAGAGACACTTTCTTCAACTTG
TCTCTGAAGGAAGTGCTGTTTCTCAGGTGGGTAAGTACTTCCTGCCCAGACACTGAGTTT
GTTTTCAAGGGCGATGACGATGTTTTTGTGAACACCCATCACATCCTGAATTACTTGAAT
AGTTTATCCAAGACCAAAGCCAAAGATCTCTTCATAGGTGATGTGATCCACAATGCTGGA
CCTCATCGGGATAAGAAGCTGAAGTACTACATCCCAGAAGTTGTTTACTCTGGCCTCTAC
CCACCCTATGCAGGGGGAGGGGGGTTCCTCTACTCCGGCCACCTGGCCCTGAGGCTGTAC
CATATCACTGACCAGGTCCATCTCTACCCCATTGATGACGTTTATACTGGAATGTGCCTT
CAGAAACTCGGCCTCGTTCCAGAGAAACACAAAGGCTTCAGGACATTTGATATCGAGGAG
AAAAACAAAAATAACATCTGCTCCTATGTAGATCTGATGTTAGTACATAGTAGAAAACCT
CAAGAGATGATTGATATTTGGTCTCAGTTGCAGAGTGCTCATTTAAAATGCTAA

1. Shiraishi N, Natsume A, Togayachi A, Endo T, Akashima T, Yamada Y, Imai N, Nakagawa S, Koizumi S, Sekine S, Narimatsu H, Sasaki K: Identification and characterization of three novel beta 1,3-N-acetylglucosaminyltransferases structurally related to the beta 1,3-galactosyltransferase family. J Biol Chem. 2001 Feb 2;276(5):3498-507. Epub 2000 Oct 19. [PubMed ]
2. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigo R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X: The sequence of the human genome. Science. 2001 Feb 16;291(5507):1304-51. [PubMed ]

1. Alpha-1,4-N-acetylhexosaminyltransferase EXTL2
2. Alpha-GalNAcT EXTL2
3. EXT-related protein 2
4. Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
5. Processed exostosin-like 2

MRCCHICKLPGRVMGIRVLRLSLVVILVLLLVAGALTALLPSVKEDKMLMLRREIKSQGK
STMDSFTLIMQTYNRTDLLLKLLNHYQAVPNLHKVIVVWNNIGEKAPDELWNSLGPHPIP
VIFKQQTANRMRNRLQVFPELETNAVLMVDDDTLISTPDLVFAFSVWQQFPDQIVGFVPR
KHVSTSSGIYSYGSFEMQAPGSGNGDQYSMVLIGASFFNSKYLELFQRQPAAVHALIDDT
QNCDDIAMNFIIAKHIGKTSGIFVKPVNMDNLEKETNSGYSGMWHRAEHALQRSYCINKL
VNIYDSMPLRYSNIMISQFGFPYANYKRKI

• Glycan structures - biosynthesis 1 (map01030 )
• Heparan sulfate biosynthesis (map00534 )

• UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D- galactosyl-(1->4)-beta-D-xylosyl-proteoglycan = UDP + alpha-N-acetyl-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)- beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl- proteoglycan [RN:R05930]

• Glyco_transf_64 (PF09258 )

• None

• 23-43

ATGAGGTGTTGCCACATCTGCAAACTTCCTGGGAGAGTAATGGGGATTCGAGTGCTTCGA
TTATCTTTGGTGGTCATCCTCGTATTATTACTGGTAGCTGGTGCTTTGACTGCCTTACTT
CCCAGTGTTAAAGAAGACAAGATGCTCATGTTGCGTAGGGAAATAAAATCCCAGGGCAAG
TCCACCATGGACTCCTTTACTCTCATAATGCAGACGTACAACAGAACAGATCTCTTATTG
AAACTTTTAAATCATTATCAGGCTGTACCAAATCTGCACAAAGTGATTGTGGTATGGAAC
AATATTGGAGAGAAGGCACCAGATGAATTATGGAATTCTCTAGGGCCCCACCCTATCCCT
GTGATCTTCAAACAACAGACAGCAAACAGGATGAGAAATCGACTCCAGGTCTTTCCTGAA
CTGGAAACCAATGCAGTGTTGATGGTAGATGATGACACACTCATCAGCACCCCAGACCTT
GTTTTTGCTTTCTCAGTTTGGCAGCAATTTCCTGATCAAATTGTAGGATTTGTTCCTAGA
AAGCACGTCTCTACTTCATCAGGTATCTACAGTTATGGAAGTTTTGAAATGCAAGCACCA
GGGTCTGGAAATGGTGACCAGTACTCTATGGTGCTGATTGGAGCCTCATTCTTCAATAGC
AAATATCTTGAATTATTTCAGAGGCAACCTGCAGCTGTCCATGCTTTGATAGATGATACT
CAAAACTGTGATGATATTGCCATGAATTTTATCATTGCCAAGCATATTGGCAAGACTTCA
GGGATATTTGTGAAGCCTGTAAACATGGACAATTTGGAAAAAGAAACCAACAGTGGCTAT
TCTGGAATGTGGCATCGAGCTGAGCACGCTCTGCAGAGGTCTTATTGTATAAATAAGCTT
GTTAATATCTATGATAGCATGCCCTTAAGATACTCCAACATTATGATTTCCCAGTTTGGT
TTTCCATATGCCAACTACAAAAGAAAAATATAA

1. Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ: Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur J Hum Genet. 1997 Nov-Dec;5(6):382-9. [PubMed ]
2. Saito T, Seki N, Yamauchi M, Tsuji S, Hayashi A, Kozuma S, Hori T: Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. Biochem Biophys Res Commun. 1998 Feb 4;243(1):61-6. [PubMed ]
3. McCormick C, Duncan G, Goutsos KT, Tufaro F: The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A. 2000 Jan 18;97(2):668-73. [PubMed ]
4. Kitagawa H, Shimakawa H, Sugahara K: The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate. J Biol Chem. 1999 May 14;274(20):13933-7. [PubMed ]
5. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]

1. N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVa
2. GlcNAc-T IVa
3. GnT-IVa
4. N-acetylglucosaminyltransferase IVa
5. UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVa
6. Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A soluble form

MRLRNGTVATALAFITSFLTLSWYTTWQNGKEKLIAYQREFLALKERLRIAEHRISQRSS
ELNTIVQQFKRVGAETNGSKDALNKFSDNTLKLLKELTSKKSLQVPSIYYHLPHLLKNEG
SLQPAVQIGNGRTGVSIVMGIPTVKREVKSYLIETLHSLIDNLYPEEKLDCVIVVFIGET
DIDYVHGVVANLEKEFSKEISSGLVEVISPPESYYPDLTNLKETFGDSKERVRWRTKQNL
DYCFLMMYAQEKGIYYIQLEDDIIVKQNYFNTIKNFALQLSSEEWMILEFSQLGFIGKMF
QAPDLTLIVEFIFMFYKEKPIDWLLDHILWVKVCNPEKDAKHCDRQKANLRIRFRPSLFQ
HVGLHSSLSGKIQKLTDKDYMKPLLLKIHVNPPAEVSTSLKVYQGHTLEKTYMGEDFFWA
ITPIAGDYILFKFDKPVNVESYLFHSGNQEHPGDILLNTTVEVLPFKSEGLEISKETKDK
RLEDGYFRIGKFENGVAEGMVDPSLNPISAFRLSVIQNSAVWAILNEIHIKKATN

• Glycan structures - biosynthesis 1 (map01030 )
• N-Glycan biosynthesis (map00510 )

• UDP-N-acetyl-D-glucosamine + 3-(2-[N-acetyl-beta-D-glucosaminyl]-alpha-D-mannosyl)-beta-D- mannosyl-R = UDP + 3-(2,4-bis[N-acetyl-beta-D-glucosaminyl]-alpha-D-mannosyl)-beta-D- mannosyl-R [RN:R04662]

• Glyco_transf_54 (PF04666 )

• None

• 5-27

ATGAGGCTCCGCAATGGAACTGTAGCCACTGCTTTAGCATTTATCACTTCCTTCCTTACT
TTGTCTTGGTATACTACATGGCAAAATGGGAAAGAAAAACTGATTGCTTATCAACGAGAA
TTCCTTGCTTTGAAAGAACGTCTTCGAATAGCTGAACACAGAATCTCACAGCGCTCTTCT
GAATTAAATACGATTGTGCAACAGTTCAAGCGTGTAGGAGCAGAAACAAATGGAAGTAAG
GATGCGTTGAATAAGTTTTCAGATAATACCCTAAAGCTGTTAAAGGAGTTAACAAGCAAA
AAATCTCTTCAAGTGCCAAGTATTTATTATCATTTGCCTCATTTATTGAAAAATGAAGGA
AGTCTTCAACCTGCTGTACAGATTGGCAACGGAAGAACAGGAGTTTCAATAGTCATGGGC
ATTCCCACAGTGAAGAGAGAAGTTAAATCTTACCTCATAGAAACTCTTCATTCCCTTATT
GATAACCTGTATCCTGAAGAGAAGTTGGACTGTGTTATAGTAGTCTTCATAGGAGAGACA
GATATTGATTATGTACATGGTGTTGTAGCCAACCTGGAGAAAGAATTTTCTAAAGAAATC
AGTTCTGGCTTGGTGGAAGTCATATCACCCCCTGAAAGCTATTATCCTGACTTGACAAAC
CTAAAGGAGACATTTGGAGACTCCAAAGAAAGAGTAAGATGGAGAACAAAGCAAAACCTA
GATTACTGTTTTCTAATGATGTATGCTCAAGAAAAGGGCATATATTACATTCAGCTTGAA
GATGATATTATTGTCAAACAAAATTATTTTAATACCATAAAAAATTTTGCACTTCAACTT
TCTTCTGAGGAATGGATGATTCTAGAGTTTTCCCAGCTGGGCTTCATTGGTAAAATGTTT
CAAGCGCCGGATCTTACTCTGATTGTAGAATTCATATTCATGTTTTACAAGGAGAAACCC
ATTGATTGGCTCCTGGACCATATTCTCTGGGTGAAAGTCTGCAACCCTGAAAAAGATGCA
AAACATTGTGATAGACAGAAAGCAAATCTGCGAATTCGCTTCAGACCTTCCCTTTTCCAA
CATGTTGGTCTGCACTCATCACTATCAGGAAAAATCCAAAAACTCACGGATAAAGATTAT
ATGAAACCATTACTTCTTAAAATCCATGTAAACCCACCTGCGGAGGTATCTACTTCCTTG
AAGGTCTACCAAGGGCATACGCTGGAGAAAACTTACATGGGAGAGGATTTCTTCTGGGCT
ATCACACCGATAGCTGGAGACTACATCTTGTTTAAATTTGATAAACCAGTCAATGTAGAA
AGTTATTTGTTCCATAGCGGCAACCAAGAACATCCTGGAGATATTCTGCTAAACACAACT
GTGGAAGTTTTGCCTTTTAAGAGTGAAGGTTTGGAAATAAGCAAAGAAACCAAAGACAAA
CGATTAGAAGATGGCTATTTCAGAATAGGAAAATTTGAGAATGGTGTTGCAGAAGGAATG
GTGGATCCAAGTCTCAATCCCATTTCAGCCTTTCGACTTTCAGTTATTCAGAATTCTGCT
GTTTGGGCCATTCTTAATGAGATTCATATTAAAAAAGCCACCAACTGA

1. Yoshida A, Minowa MT, Takamatsu S, Hara T, Oguri S, Ikenaga H, Takeuchi M: Tissue specific expression and chromosomal mapping of a human UDP-N-acetylglucosamine: alpha1,3-d-mannoside beta1, 4-N-acetylglucosaminyltransferase. Glycobiology. 1999 Mar;9(3):303-10. [PubMed ]
2. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed ]
3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
4. Takamatsu S, Oguri S, Minowa MT, Yoshida A, Nakamura K, Takeuchi M, Kobata A: Unusually high expression of N-acetylglucosaminyltransferase-IVa in human choriocarcinoma cell lines: a possible enzymatic basis of the formation of abnormal biantennary sugar chain. Cancer Res. 1999 Aug 15;59(16):3949-53. [PubMed ]
5. Ide Y, Miyoshi E, Nakagawa T, Gu J, Tanemura M, Nishida T, Ito T, Yamamoto H, Kozutsumi Y, Taniguchi N: Aberrant expression of N-acetylglucosaminyltransferase-IVa and IVb (GnT-IVa and b) in pancreatic cancer. Biochem Biophys Res Commun. 2006 Mar 10;341(2):478-82. Epub 2006 Jan 11. [PubMed ]
6. Oguri S, Yoshida A, Minowa MT, Takeuchi M: Kinetic properties and substrate specificities of two recombinant human N-acetylglucosaminyltransferase-IV isozymes. Glycoconj J. 2006 Nov;23(7-8):473-80. [PubMed ]

1. N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVb
2. GlcNAc-T IVb
3. GnT-IVb
4. N-acetylglucosaminyltransferase IVb
5. UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IVb

MRLRNGTFLTLLLFCLCAFLSLSWYAALSGQKGDVVDVYQREFLALRDRLHAAEQESLKR
SKELNLVLDEIKRAVSERQALRDGDGNRTWGRLTEDPRLKPWNGSHRHVLHLPTVFHHLP
HLLAKESSLQPAVRVGQGRTGVSVVMGIPSVRREVHSYLTDTLHSLISELSPQEKEDSVI
VVLIAETDSQYTSAVTENIKALFPTEIHSGLLEVISPSPHFYPDFSRLRESFGDPKERVR
WRTKQNLDYCFLMMYAQSKGIYYVQLEDDIVAKPNYLSTMKNFALQQPSEDWMILEFSQL
GFIGKMFKSLDLSLIVEFILMFYRDKPIDWLLDHILWVKVCNPEKDAKHCDRQKANLRIR
FKPSLFQHVGTHSSLAGKIQKLKDKDFGKQALRKEHVNPPAEVSTSLKTYQHFTLEKAYL
REDFFWAFTPAAGDFIRFRFFQPLRLERFFFRSGNIEHPEDKLFNTSVEVLPFDNPQSDK
EALQEGRTATLRYPRSPDGYLQIGSFYKGVAEGEVDPAFGPLEALRLSIQTDSPVWVILS
EIFLKKAD

• Glycan structures - biosynthesis 1 (map01030 )
• N-Glycan biosynthesis (map00510 )

• UDP-N-acetyl-D-glucosamine + 3-(2-[N-acetyl-beta-D-glucosaminyl]-alpha-D-mannosyl)-beta-D- mannosyl-R = UDP + 3-(2,4-bis[N-acetyl-beta-D-glucosaminyl]-alpha-D-mannosyl)-beta-D- mannosyl-R [RN:R04662]

• Glyco_transf_54 (PF04666 )

• None

• 8-28

ATGAGGCTCCGCAATGGCACCTTCCTGACGCTGCTGCTCTTCTGCCTGTGCGCCTTCCTC
TCGCTGTCCTGGTACGCGGCACTCAGCGGCCAGAAAGGCGACGTTGTGGACGTTTACCAG
CGGGAGTTCCTGGCGCTGCGCGATCGGTTGCACGCAGCTGAGCAGGAGAGCCTCAAGCGC
TCCAAGGAGCTCAACCTGGTGCTGGACGAGATCAAGAGGGCCGTGTCAGAAAGGCAGGCG
CTGCGAGACGGAGACGGCAATCGCACCTGGGGCCGCCTAACAGAGGACCCCCGATTGAAG
CCGTGGAACGGCTCACACCGGCACGTGCTGCACCTGCCCACCGTCTTCCATCACCTGCCA
CACCTGCTGGCCAAGGAGAGCAGTCTGCAGCCCGCGGTGCGCGTGGGCCAGGGCCGCACC
GGAGTGTCGGTGGTGATGGGCATCCCGAGCGTGCGGCGCGAGGTGCACTCGTACCTGACT
GACACTCTGCACTCGCTCATCTCCGAGCTGAGCCCGCAGGAGAAGGAGGACTCGGTCATC
GTGGTGCTGATCGCCGAGACTGACTCACAGTACACTTCGGCAGTGACAGAGAACATCAAG
GCCTTGTTCCCCACGGAGATCCATTCTGGGCTCCTGGAGGTCATCTCACCCTCCCCCCAC
TTCTACCCTGACTTCTCCCGCCTCCGAGAGTCCTTTGGGGACCCCAAGGAGAGAGTCAGG
TGGAGGACCAAACAGAACCTCGATTACTGCTTCCTCATGATGTACGCGCAGTCCAAAGGC
ATCTACTACGTGCAGCTGGAGGATGACATCGTGGCCAAGCCCAACTACCTGAGCACCATG
AAGAACTTTGCACTGCAGCAGCCTTCAGAGGACTGGATGATCCTGGAGTTCTCCCAGCTG
GGCTTCATTGGTAAGATGTTCAAGTCGCTGGACCTGAGCCTGATTGTAGAGTTCATTCTC
ATGTTCTACCGGGACAAGCCCATCGACTGGCTCCTGGACCATATTCTGTGGGTGAAAGTC
TGCAACCCCGAGAAGGATGCGAAGCACTGTGACCGGCAGAAAGCCAACCTGCGGATCCGC
TTCAAACCGTCCCTCTTCCAGCACGTGGGCACTCACTCCTCGCTGGCTGGCAAGATCCAG
AAACTGAAGGACAAAGACTTTGGAAAGCAGGCGCTGCGGAAGGAGCATGTGAACCCGCCA
GCAGAGGTGAGCACGAGCCTGAAGACATACCAGCACTTCACCCTGGAGAAAGCCTACCTG
CGCGAGGACTTCTTCTGGGCCTTCACCCCTGCCGCGGGGGACTTCATCCGCTTCCGCTTC
TTCCAACCTCTAAGACTGGAGCGGTTCTTCTTCCGCAGTGGGAACATCGAGCACCCGGAG
GACAAGCTCTTCAACACGTCTGTGGAGGTGCTGCCCTTCGACAACCCTCAGTCAGACAAG
GAGGCCCTGCAGGAGGGCCGCACCGCCACCCTCCGGTACCCTCGGAGCCCCGACGGCTAC
CTCCAGATCGGCTCCTTCTACAAGGGAGTGGCAGAGGGAGAGGTGGACCCAGCCTTCGGC
CCTCTGGAAGCACTGCGCCTCTCGATCCAGACGGACTCCCCTGTGTGGGTGATTCTGAGC
GAGATCTTCCTGAAAAAGGCCGACTAA

1. Yoshida A, Minowa MT, Takamatsu S, Hara T, Ikenaga H, Takeuchi M: A novel second isoenzyme of the human UDP-N-acetylglucosamine:alpha1,3-D-mannoside beta1,4-N-acetylglucosaminyltransferase family: cDNA cloning, expression, and chromosomal assignment. Glycoconj J. 1998 Dec;15(12):1115-23. [PubMed ]
2. Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 2003 Oct;13(10):2265-70. Epub 2003 Sep 15. [PubMed ]
3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
4. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [PubMed ]
5. Ide Y, Miyoshi E, Nakagawa T, Gu J, Tanemura M, Nishida T, Ito T, Yamamoto H, Kozutsumi Y, Taniguchi N: Aberrant expression of N-acetylglucosaminyltransferase-IVa and IVb (GnT-IVa and b) in pancreatic cancer. Biochem Biophys Res Commun. 2006 Mar 10;341(2):478-82. Epub 2006 Jan 11. [PubMed ]
6. Oguri S, Yoshida A, Minowa MT, Takeuchi M: Kinetic properties and substrate specificities of two recombinant human N-acetylglucosaminyltransferase-IV isozymes. Glycoconj J. 2006 Nov;23(7-8):473-80. [PubMed ]

1. BGnT-5
2. Beta-1,3-Gn-T5
3. Beta-1,3-N-acetylglucosaminyltransferase 5
4. Beta3Gn-T5
5. Lactotriaosylceramide synthase
6. Lc(3)Cer synthase
7. Lc3 synthase

MRMLVSGRRVKKWQLIIQLFATCFLASLMFFWEPIDNHIVSHMKSYSYRYLINSYDFVND
TLSLKHTSAGPRYQYLINHKEKCQAQDVLLLLFVKTAPENYDRRSGIRRTWGNENYVRSQ
LNANIKTLFALGTPNPLEGEELQRKLAWEDQRYNDIIQQDFVDSFYNLTLKLLMQFSWAN
TYCPHAKFLMTADDDIFIHMPNLIEYLQSLEQIGVQDFWIGRVHRGAPPIRDKSSKYYVS
YEMYQWPAYPDYTAGAAYVISGDVAAKVYEASQTLNSSLYIDDVFMGLCANKIGIVPQDH
VFFSGEGKTPYHPCIYEKMMTSHGHLEDLQDLWKNATDPKVKTISKGFFGQIYCRLMKII
LLCKISYVDTYPCRAAFI

• Galactosyl_T (PF01762 )

• None

• 15-35

ATGAGAATGTTGGTTAGTGGCAGAAGAGTCAAAAAATGGCAGTTAATTATTCAGTTATTT
GCTACTTGTTTTTTAGCGAGCCTCATGTTTTTTTGGGAACCAATCGATAATCACATTGTG
AGCCATATGAAGTCATATTCTTACAGATACCTCATAAATAGCTATGACTTTGTGAATGAT
ACCCTGTCTCTTAAGCACACCTCAGCGGGGCCTCGCTACCAATACTTGATTAACCACAAG
GAAAAGTGTCAAGCTCAAGACGTCCTCCTTTTACTGTTTGTAAAAACTGCTCCTGAAAAC
TATGATCGACGTTCCGGAATTAGAAGGACGTGGGGCAATGAAAATTATGTTCGGTCTCAG
CTGAATGCCAACATCAAAACTCTGTTTGCCTTAGGAACTCCTAATCCACTGGAGGGAGAA
GAACTACAAAGAAAACTGGCTTGGGAAGATCAAAGGTACAATGATATAATTCAGCAAGAC
TTTGTTGATTCTTTCTACAATCTTACTCTGAAATTACTTATGCAGTTCAGTTGGGCAAAT
ACCTATTGTCCACATGCCAAATTTCTTATGACTGCTGATGATGACATATTTATTCACATG
CCAAATCTGATTGAGTACCTTCAAAGTTTAGAACAAATTGGTGTTCAAGACTTTTGGATT
GGTCGTGTTCATCGTGGTGCCCCTCCCATTAGAGATAAAAGCAGCAAATACTACGTGTCC
TATGAAATGTACCAGTGGCCAGCTTACCCTGACTACACAGCCGGAGCTGCCTATGTAATC
TCCGGTGATGTAGCTGCCAAAGTCTATGAGGCATCACAGACACTAAATTCAAGTCTTTAC
ATAGACGATGTGTTCATGGGCCTCTGTGCCAATAAAATAGGGATAGTACCGCAGGACCAT
GTGTTTTTTTCTGGAGAGGGTAAAACTCCTTATCATCCCTGCATCTATGAAAAAATGATG
ACATCTCATGGACACTTAGAAGATCTCCAGGACCTTTGGAAGAATGCTACAGATCCTAAA
GTAAAAACCATTTCCAAAGGTTTTTTTGGTCAAATATACTGCAGATTAATGAAGATAATT
CTCCTTTGTAAAATTAGCTATGTGGACACATACCCTTGTAGGGCTGCGTTTATCTAA

1. Togayachi A, Akashima T, Ookubo R, Kudo T, Nishihara S, Iwasaki H, Natsume A, Mio H, Inokuchi J, Irimura T, Sasaki K, Narimatsu H: Molecular cloning and characterization of UDP-GlcNAc:lactosylceramide beta 1,3-N-acetylglucosaminyltransferase (beta 3Gn-T5), an essential enzyme for the expression of HNK-1 and Lewis X epitopes on glycolipids. J Biol Chem. 2001 Jun 22;276(25):22032-40. Epub 2001 Mar 30. [PubMed ]
2. Henion TR, Zhou D, Wolfer DP, Jungalwala FB, Hennet T: Cloning of a mouse beta 1,3 N-acetylglucosaminyltransferase GlcNAc(beta 1,3)Gal(beta 1,4)Glc-ceramide synthase gene encoding the key regulator of lacto-series glycolipid biosynthesis. J Biol Chem. 2001 Aug 10;276(32):30261-9. Epub 2001 May 30. [PubMed ]
3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]

1. GlcNAc-1-phosphotransferase subunits alpha/beta
2. Stealth protein GNPTAB
3. UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
4. N-acetylglucosamine-1-phosphotransferase subunit alpha
5. N-acetylglucosamine-1-phosphotransferase subunit beta

MLFKLLQRQTYTCLSHRYGLYVCFLGVVVTIVSAFQFGEVVLEWSRDQYHVLFDSYRDNI
AGKSFQNRLCLPMPIDVVYTWVNGTDLELLKELQQVREQMEEEQKAMREILGKNTTEPTK
KSEKQLECLLTHCIKVPMLVLDPALPANITLKDLPSLYPSFHSASDIFNVAKPKNPSTNV
SVVVFDSTKDVEDAHSGLLKGNSRQTVWRGYLTTDKEVPGLVLMQDLAFLSGFPPTFKET
NQLKTKLPENLSSKVKLLQLYSEASVALLKLNNPKDFQELNKQTKKNMTIDGKELTISPA
YLLWDLSAISQSKQDEDISASRFEDNEELRYSLRSIERHAPWVRNIFIVTNGQIPSWLNL
DNPRVTIVTHQDVFRNLSHLPTFSSPAIESHIHRIEGLSQKFIYLNDDVMFGKDVWPDDF
YSHSKGQKVYLTWPVPNCAEGCPGSWIKDGYCDKACNNSACDWDGGDCSGNSGGSRYIAG
GGGTGSIGVGQPWQFGGGINSVSYCNQGCANSWLADKFCDQACNVLSCGFDAGDCGQDHF
HELYKVILLPNQTHYIIPKGECLPYFSFAEVAKRGVEGAYSDNPIIRHASIANKWKTIHL
IMHSGMNATTIHFNLTFQNTNDEEFKMQITVEVDTREGPKLNSTAQKGYENLVSPITLLP
EAEILFEDIPKEKRFPKFKRHDVNSTRRAQEEVKIPLVNISLLPKDAQLSLNTLDLQLEH
GDITLKGYNLSKSALLRSFLMNSQHAKIKNQAIITDETNDSLVAPQEKQVHKSILPNSLG
VSERLQRLTFPAVSVKVNGHDQGQNPPLDLETTARFRVETHTQKTIGGNVTKEKPPSLIV
PLESQMTKEKKITGKEKENSRMEENAENHIGVTEVLLGRKLQHYTDSYLGFLPWEKKKYF
QDLLDEEESLKTQLAYFTDSKNTGRQLKDTFADSLRYVNKILNSKFGFTSRKVPAHMPHM
IDRIVMQELQDMFPEEFDKTSFHKVRHSEDMQFAFSYFYYLMSAVQPLNISQVFDEVDTD
QSGVLSDREIRTLATRIHELPLSLQDLTGLEHMLINCSKMLPADITQLNNIPPTQESYYD
PNLPPVTKSLVTNCKPVTDKIHKAYKDKNKYRFEIMGEEEIAFKMIRTNVSHVVGQLDDI
RKNPRKFVCLNDNIDHNHKDAQTVKAVLRDFYESMFPIPSQFELPREYRNRFLHMHELQE
WRAYRDKLKFWTHCVLATLIMFTIFSFFAEQLIALKRKIFPRRRIHKEASPNRIRV

• UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose = UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose [RN:R04291]

• DMAP_binding (PF06464 )
• DUF3184 (PF11380 )
• Notch (PF00066 )

• None

• 22-42 1215-1235

ATGCTGTTCAAGCTCCTGCAGAGACAGACCTATACCTGCCTGTCCCACAGGTATGGGCTC
TACGTGTGCTTCTTGGGCGTCGTTGTCACCATCGTCTCCGCCTTCCAGTTCGGAGAGGTG
GTTCTGGAATGGAGCCGAGATCAATACCATGTTTTGTTTGATTCCTATAGAGACAATATT
GCTGGAAAGTCCTTTCAGAATCGGCTTTGTCTGCCCATGCCGATTGACGTTGTTTACACC
TGGGTGAATGGCACAGATCTTGAACTACTGAAGGAACTACAGCAGGTCAGAGAACAGATG
GAGGAGGAGCAGAAAGCAATGAGAGAAATCCTTGGGAAAAACACAACGGAACCTACTAAG
AAGAGTGAGAAGCAGTTAGAGTGTTTGCTAACACACTGCATTAAGGTGCCAATGCTTGTC
CTGGACCCAGCCCTGCCAGCCAACATCACCCTGAAGGACCTGCCATCTCTTTATCCTTCT
TTTCATTCTGCCAGTGACATTTTCAATGTTGCAAAACCAAAAAACCCTTCTACCAATGTC
TCAGTTGTTGTTTTTGACAGTACTAAGGATGTTGAAGATGCCCACTCTGGACTGCTTAAA
GGAAATAGCAGACAGACAGTATGGAGGGGCTACTTGACAACAGATAAAGAAGTCCCTGGA
TTAGTGCTAATGCAAGATTTGGCTTTCCTGAGTGGATTTCCACCAACATTCAAGGAAACA
AATCAACTAAAAACAAAATTGCCAGAAAATCTTTCCTCTAAAGTCAAACTGTTGCAGTTG
TATTCAGAGGCCAGTGTAGCGCTTCTAAAACTGAATAACCCCAAGGATTTTCAAGAATTG
AATAAGCAAACTAAGAAGAACATGACCATTGATGGAAAAGAACTGACCATAAGTCCTGCA
TATTTATTATGGGATCTGAGCGCCATCAGCCAGTCTAAGCAGGATGAAGACATCTCTGCC
AGTCGTTTTGAAGATAACGAAGAACTGAGGTACTCATTGCGATCTATCGAGAGGCATGCA
CCATGGGTTCGGAATATTTTCATTGTCACCAACGGGCAGATTCCATCCTGGCTGAACCTT
GACAATCCTCGAGTGACAATAGTAACACACCAGGATGTTTTTCGAAATTTGAGCCACTTG
CCTACCTTTAGTTCACCTGCTATTGAAAGTCACATTCATCGCATCGAAGGGCTGTCCCAG
AAGTTTATTTACCTAAATGATGATGTCATGTTTGGGAAGGATGTCTGGCCAGATGATTTT
TACAGTCACTCCAAAGGCCAGAAGGTTTATTTGACATGGCCTGTGCCAAACTGTGCCGAG
GGCTGCCCAGGTTCCTGGATTAAGGATGGCTATTGTGACAAGGCTTGTAATAATTCAGCC
TGCGATTGGGATGGTGGGGATTGCTCTGGAAACAGTGGAGGGAGTCGCTATATTGCAGGA
GGTGGAGGTACTGGGAGTATTGGAGTTGGACAGCCCTGGCAGTTTGGTGGAGGAATAAAC
AGTGTCTCTTACTGTAATCAGGGATGTGCGAATTCCTGGCTCGCTGATAAGTTCTGTGAC
CAAGCATGCAATGTCTTGTCCTGTGGGTTTGATGCTGGCGACTGTGGGCAAGATCATTTT
CATGAATTGTATAAAGTGATCCTTCTCCCAAACCAGACTCACTATATTATTCCAAAAGGT
GAATGCCTGCCTTATTTCAGCTTTGCAGAAGTAGCCAAAAGAGGAGTTGAAGGTGCCTAT
AGTGACAATCCAATAATTCGACATGCTTCTATTGCCAACAAGTGGAAAACCATCCACCTC
ATAATGCACAGTGGAATGAATGCCACCACAATACATTTTAATCTCACGTTTCAAAATACA
AACGATGAAGAGTTCAAAATGCAGATAACAGTGGAGGTGGACACAAGGGAGGGACCAAAA
CTGAATTCTACAGCCCAGAAGGGTTACGAAAATTTAGTTAGTCCCATAACACTTCTTCCA
GAGGCGGAAATCCTTTTTGAGGATATTCCCAAAGAAAAACGCTTCCCGAAGTTTAAGAGA
CATGATGTTAACTCAACAAGGAGAGCCCAGGAAGAGGTGAAAATTCCCCTGGTAAATATT
TCACTCCTTCCAAAAGACGCCCAGTTGAGTCTCAATACCTTGGATTTGCAACTGGAACAT
GGAGACATCACTTTGAAAGGATACAATTTGTCCAAGTCAGCCTTGCTGAGATCATTTCTG
ATGAACTCACAGCATGCTAAAATAAAAAATCAAGCTATAATAACAGATGAAACAAATGAC
AGTTTGGTGGCTCCACAGGAAAAACAGGTTCATAAAAGCATCTTGCCAAACAGCTTAGGA
GTGTCTGAAAGATTGCAGAGGTTGACTTTTCCTGCAGTGAGTGTAAAAGTGAATGGTCAT
GACCAGGGTCAGAATCCACCCCTGGACTTGGAGACCACAGCAAGATTTAGAGTGGAAACT
CACACCCAAAAAACCATAGGCGGAAATGTGACAAAAGAAAAGCCCCCATCTCTGATTGTT
CCACTGGAAAGCCAGATGACAAAAGAAAAGAAAATCACAGGGAAAGAAAAAGAGAACAGT
AGAATGGAGGAAAATGCTGAAAATCACATAGGCGTTACTGAAGTGTTACTTGGAAGAAAG
CTGCAGCATTACACAGATAGTTACTTGGGCTTTTTGCCATGGGAGAAAAAAAAGTATTTC
CAAGATCTTCTCGACGAAGAAGAGTCATTGAAGACACAATTGGCATACTTCACTGATAGC
AAAAATACTGGGAGGCAACTAAAAGATACATTTGCAGATTCCCTCAGATATGTAAATAAA
ATTCTAAATAGCAAGTTTGGATTCACATCGCGGAAAGTCCCTGCTCACATGCCTCACATG
ATTGACCGGATTGTTATGCAAGAACTGCAAGATATGTTCCCTGAAGAATTTGACAAGACG
TCATTTCACAAAGTGCGCCATTCTGAGGATATGCAGTTTGCCTTCTCTTATTTTTATTAT
CTCATGAGTGCAGTGCAGCCACTGAATATATCTCAAGTCTTTGATGAAGTTGATACAGAT
CAATCTGGTGTCTTGTCTGACAGAGAAATCCGAACACTGGCTACCAGAATTCACGAACTG
CCGTTAAGTTTGCAGGATTTGACAGGTCTGGAACACATGCTAATAAATTGCTCAAAAATG
CTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGAT
CCCAACCTGCCACCGGTCACTAAAAGTCTAGTAACAAACTGTAAACCAGTAACTGACAAA
ATCCACAAAGCATATAAGGACAAAAACAAATATAGGTTTGAAATCATGGGAGAAGAAGAA
ATCGCTTTTAAAATGATTCGTACCAACGTTTCTCATGTGGTTGGCCAGTTGGATGACATA
AGAAAAAACCCTAGGAAGTTTGTTTGCCTGAATGACAACATTGACCACAATCATAAAGAT
GCTCAGACAGTGAAGGCTGTTCTCAGGGACTTCTATGAATCCATGTTCCCCATACCTTCC
CAATTTGAACTGCCAAGAGAGTATCGAAACCGTTTCCTTCATATGCATGAGCTGCAGGAA
TGGAGGGCTTATCGAGACAAATTGAAGTTTTGGACCCATTGTGTACTAGCAACATTGATT
ATGTTTACTATATTCTCATTTTTTGCTGAGCAGTTAATTGCACTTAAGCGGAAGATATTT
CCCAGAAGGAGGATACACAAAGAAGCTAGTCCCAATCGAATCAGAGTATAG

1. Tiede S, Storch S, Lubke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T: Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med. 2005 Oct;11(10):1109-12. Epub 2005 Oct 2. [PubMed ]
2. Kudo M, Bao M, D'Souza A, Ying F, Pan H, Roe BA, Canfield WM: The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA. J Biol Chem. 2005 Oct 28;280(43):36141-9. Epub 2005 Aug 24. [PubMed ]
3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
4. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
5. Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 1999 Oct 29;6(5):337-45. [PubMed ]
6. Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. DNA Res. 2002 Jun 30;9(3):99-106. [PubMed ]
7. Sperisen P, Schmid CD, Bucher P, Zilian O: Stealth proteins: in silico identification of a novel protein family rendering bacterial pathogens invisible to host immune defense. PLoS Comput Biol. 2005 Nov;1(6):e63. Epub 2005 Nov 18. [PubMed ]
8. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. [PubMed ]
9. Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T: Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. Am J Med Genet A. 2005 Sep 1;137(3):235-40. [PubMed ]
10. Kudo M, Brem MS, Canfield WM: Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. Am J Hum Genet. 2006 Mar;78(3):451-63. Epub 2006 Jan 24. [PubMed ]
11. Tiede S, Cantz M, Spranger J, Braulke T: Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG. Hum Mutat. 2006 Aug;27(8):830-1. [PubMed ]
12. Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A: When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab. 2006 Aug;88(4):359-63. Epub 2006 Apr 21. [PubMed ]
13. Tappino B, Chuzhanova NA, Regis S, Dardis A, Corsolini F, Stroppiano M, Tonoli E, Beccari T, Rosano C, Mucha J, Blanco M, Szlago M, Di Rocco M, Cooper DN, Filocamo M: Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. Hum Mutat. 2009 Nov;30(11):E956-73. [PubMed ]
14. Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N: Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet. 2009 Mar;54(3):145-51. Epub 2009 Feb 6. [PubMed ]

MVCVLVLAAAAGAVAVFLILRIWVVLRSMDVTPRESLSILVVAGSGGHTTEILRLLGSLS
NAYSPRHYVIADTDEMSANKINSFELDRADRDPSNMYTKYYIHRIPRSREVQQSWPSTVF
TTLHSMWLSFPLIHRVKPDLVLCNGPGTCVPICVSALLLGILGIKKVIIVYVESICRVET
LSMSGKILFHLSDYFIVQWPALKEKYPKSVYLGRIV

• None

• None

ATGGTGTGCGTTCTCGTTCTAGCTGCGGCCGCAGGAGCTGTGGCGGTTTTCCTAATCCTG
CGAATATGGGTAGTGCTTCGTTCCATGGACGTTACGCCCCGGGAGTCTCTCAGTATCTTG
GTAGTGGCTGGGTCCGGTGGGCATACCACTGAGATCCTGAGGCTGCTTGGGAGCTTGTCC
AATGCCTACTCACCTAGACATTATGTCATTGCTGACACTGATGAAATGAGTGCCAATAAA
ATAAATTCTTTTGAACTAGATCGAGCTGATAGAGACCCTAGTAACATGTATACCAAATAC
TACATTCACCGAATTCCAAGAAGCCGGGAGGTTCAGCAGTCCTGGCCCTCCACCGTTTTC
ACCACCTTGCACTCCATGTGGCTCTCCTTTCCCCTAATTCACAGGGTGAAGCCAGATTTG
GTGTTGTGTAACGGACCAGGAACATGTGTTCCTATCTGTGTATCTGCCCTTCTCCTTGGG
ATACTAGGAATAAAGAAAGTGATCATTGTCTACGTTGAAAGCATCTGCCGTGTAGAAACG
TTATCCATGTCCGGAAAGATTCTGTTTCATCTCTCAGATTACTTCATTGTTCAGTGGCCG
GCTCTGAAAGAAAAGTATCCCAAATCGGTGTACCTTGGGCGAATTGTTTGA

1. SubName: cDNA FLJ78031, highly similar to Homo sapiens beta3GnT6 beta-1,3-N- acetylglucosaminyltransferase 6
2. SubName: cDNA, FLJ94270, Homo sapiens beta-1,3-N-acetylglucosaminyltransferase protein(IMAGE:4907098), mRNA

MAFPCRRSLTAKTLACLLVGVSFLALQQWFLQAPRSPREERSPQEETPEGPTDAPAADEP
PSELVPGPPCVANASANATADFEQLPARIQDFLRYRHCRHFPLLWDAPAKCAGGRGVFLL
LAVKSAPEHYERRELIRRTWGQERSYGGRPVRRLFLLGTPGPEDEARAERLAELVALEAR
EHGDVLQWAFADTFLNLTLKHLHLLDWLAARCPHARFLLSGDDDVFVHTANVVRFLQAQP
PGRHLFSGQLMEGSVPIRDSWSKYFVPPQLFPGSAYPVYCSGGGFLLSGPTARALRAAAR
HTPLFPIDDAYMGMCLERAGLAPSGHEGIRPFGVQLPGAQQSSFDPCMYRELLLVHRFAP
YEMLLMWKALHSPALSCDRGHRVS

• Galactosyl_T (PF01762 )

• None

• None

ATGGCTTTTCCCTGCCGCAGGTCCCTGACTGCCAAGACTCTGGCCTGCCTCCTGGTGGGC
GTGAGTTTCTTAGCACTGCAGCAGTGGTTCCTCCAGGCGCCAAGGTCCCCGCGGGAGGAG
AGGTCCCCGCAGGAGGAGACGCCAGAGGGTCCCACCGACGCTCCCGCGGCTGACGAGCCG
CCCTCGGAGCTCGTCCCCGGGCCCCCGTGCGTGGCGAACGCCTCGGCGAACGCCACGGCC
GACTTCGAGCAGCTGCCCGCGCGCATCCAGGACTTCCTGCGGTACCGCCACTGCCGCCAC
TTCCCGCTGCTTTGGGACGCACCGGCCAAGTGCGCCGGCGGCCGAGGCGTGTTCCTGCTC
CTGGCGGTGAAGTCGGCGCCTGAGCACTACGAGCGACGCGAGCTCATCCGGCGCACGTGG
GGGCAAGAGCGCAGCTACGGCGGGCGGCCAGTGCGCCGCCTCTTTCTATTGGGCACCCCG
GGCCCCGAGGACGAGGCGCGCGCGGAGCGGCTGGCGGAGCTGGTGGCGCTGGAGGCGCGC
GAGCACGGCGACGTGCTGCAGTGGGCCTTCGCGGACACCTTCCTCAACCTCACGCTCAAG
CACCTGCACTTGCTCGACTGGCTGGCTGCACGCTGCCCGCACGCGCGCTTTCTGCTCAGC
GGCGACGACGACGTGTTCGTGCACACCGCCAACGTAGTCCGCTTCCTGCAGGCGCAGCCA
CCCGGCCGCCACCTGTTCTCCGGCCAGCTCATGGAGGGCTCCGTGCCCATCCGCGACAGC
TGGAGCAAGTACTTCGTGCCGCCGCAGCTCTTCCCCGGGTCCGCTTACCCGGTGTACTGC
AGCGGCGGCGGCTTCCTCCTGTCCGGCCCCACGGCCCGGGCCCTGCGCGCGGCCGCCCGC
CACACCCCGCTCTTCCCCATCGACGACGCCTACATGGGCATGTGTCTGGAGCGCGCCGGC
CTGGCGCCCAGCGGCCACGAGGGCATCCGGCCCTTCGGCGTGCAGCTGCCTGGCGCACAG
CAGTCCTCCTTCGACCCCTGCATGTACCGCGAGTTGCTGCTAGTGCACCGCTTCGCGCCC
TACGAGATGCTGCTCATGTGGAAGGCGCTGCACAGCCCCGCGCTCAGCTGTGACCGGGGA
CACCGGGTCTCCTGA

1. SubName: UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

METYGYLQRESCFQGPHELYFKNLSKRNKQIMEKNGNNRKLRVCVATCNRADYSKLAPIM
FGIKTEPEFFELDVVVLGSHLIDDYGNTYRMIEQDDFDINTRLHTIVRGEDEAAMVESVG
LALVKLPDVLNRLKPDIMIVHGDRFDALALATSAALMNIRILHIEGGEVSGTIDDSIRHA
ITKLAHYHVCCTRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGDDV
KSKDYIVALQHPVTTDIKHSIKMFELTLDALISFNKRTLVLFPNIDAGSKEMVRVMRKKG
IEHHPNFRAVKHVPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGE
NVLHVRDADTQDKILQALHLQFGKQYPCSKIYGDGNAVPRILKFLKSIDLQEPLQKKFCF
PPVKENISQDIDHILETLSALAVDLGGTNLRVAIVSMKGEIVKKYTQFNPKTYEERINLI
LQMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTKLIQEWNSVDLRTPLSDTLH
LPVWVDNDGNCAALAERKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGSSFCAAELGH
LVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQ
AAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALS
SVQDVDVVVSDLVDPALLGAASMVLDYTTRRIY

• UDP-N-acetyl-D-glucosamine = UDP-N-acetyl-D-mannosamine [RN:R00420]

• Epimerase_2 (PF02350 )
• ROK (PF00480 )

• None

• None

ATGGAAACCTATGGTTATCTGCAGAGGGAGTCATGCTTTCAAGGACCTCATGAACTCTAT
TTTAAGAACCTCTCAAAACGAAACAAGCAAATCATGGAGAAGAATGGAAATAACCGAAAG
CTGCGGGTTTGTGTTGCTACTTGTAACCGTGCAGATTATTCTAAACTTGCCCCGATCATG
TTTGGCATTAAAACCGAACCTGAGTTCTTTGAACTTGATGTTGTGGTACTTGGCTCTCAC
CTGATAGATGACTATGGAAATACATATCGAATGATTGAACAAGATGACTTTGACATTAAC
ACCAGGCTACACACAATTGTGAGGGGAGAAGATGAGGCAGCCATGGTGGAGTCAGTAGGC
CTGGCCCTAGTGAAGCTGCCAGATGTCCTTAATCGCCTGAAGCCTGATATCATGATTGTT
CATGGAGACAGGTTTGATGCCCTGGCTCTGGCCACATCTGCTGCCTTGATGAACATCCGA
ATCCTTCACATTGAAGGTGGGGAAGTCAGTGGGACCATTGATGACTCTATCAGACATGCC
ATAACAAAACTGGCTCATTATCATGTGTGCTGCACCCGCAGTGCAGAGCAGCACCTGATA
TCCATGTGTGAGGACCATGATCGCATCCTTTTGGCAGGCTGCCCTTCCTATGACAAACTT
CTCTCAGCCAAGAACAAAGACTACATGAGCATCATTCGCATGTGGCTAGGTGATGATGTA
AAATCTAAAGATTACATTGTTGCACTACAGCACCCTGTGACCACTGACATTAAGCATTCC
ATAAAAATGTTTGAATTAACATTGGATGCACTTATCTCATTTAACAAGCGGACCCTAGTC
CTGTTTCCAAATATTGACGCAGGGAGCAAAGAGATGGTTCGAGTGATGCGGAAGAAGGGC
ATTGAGCATCATCCCAACTTTCGTGCAGTTAAACACGTCCCATTTGACCAGTTTATACAG
TTGGTTGCCCATGCTGGCTGTATGATTGGGAACAGCAGCTGTGGGGTTCGAGAAGTTGGA
GCTTTTGGAACACCTGTGATCAACCTGGGAACACGTCAGATTGGAAGAGAAACAGGGGAG
AATGTTCTTCATGTCCGGGATGCTGACACCCAAGACAAAATATTGCAAGCACTGCACCTT
CAGTTTGGTAAACAGTACCCTTGTTCAAAGATATATGGGGATGGAAATGCTGTTCCAAGG
ATTTTGAAGTTTCTCAAATCTATCGATCTTCAAGAGCCACTGCAAAAGAAATTCTGCTTT
CCTCCTGTGAAGGAGAATATCTCTCAAGATATTGACCATATTCTTGAAACTCTAAGTGCC
TTGGCCGTTGATCTTGGCGGGACGAACCTCCGAGTTGCAATAGTCAGCATGAAGGGTGAA
ATAGTTAAGAAGTATACTCAGTTCAATCCTAAAACCTATGAAGAGAGGATTAATTTAATC
CTACAGATGTGTGTGGAAGCTGCAGCAGAAGCTGTAAAACTGAACTGCAGAATTTTGGGA
GTAGGCATTTCCACAGGTGGCCGTGTAAATCCTCGGGAAGGAATTGTGCTGCATTCAACC
AAACTGATCCAAGAGTGGAACTCTGTGGACCTTAGGACCCCCCTTTCTGACACTTTGCAT
CTCCCTGTGTGGGTAGACAATGATGGCAACTGTGCTGCCCTGGCGGAAAGGAAATTTGGC
CAAGGAAAGGGACTGGAAAACTTTGTTACACTTATCACAGGCACAGGAATCGGTGGTGGA
ATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCAC
CTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCA
TACGCCTCTGGAATGGCCTTGCAGAGGGAGGCAAAAAAGCTCCATGATGAGGACCTGCTC
TTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAA
GCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAGCTGGAACAGCTTTG
GGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGA
GTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCC
TCCGTGCAGGACGTGGATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCT
GCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAG

1. Reinke SO, Hinderlich S: Prediction of three different isoforms of the human UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. FEBS Lett. 2007 Jul 10;581(17):3327-31. Epub 2007 Jun 21. [PubMed ]
2. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigo R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X: The sequence of the human genome. Science. 2001 Feb 16;291(5507):1304-51. [PubMed ]

MNINDLKLTLSKAGQEHLLRFWNELEEAQQVELYAELQAMNFEELNFFFQKAIEGFNQSS
HQKNVDARMEPVPREVLGSATRDQDQLQAWESEGLFQISQNKVAVLLLAGGQGTRLGVAY
PKGMYDVGLPSRKTLFQIQAERILKLQQVAEKYYGNKCIIPWYIMTSGRTMESTKEFFTK
HKYFGLKKENVIFFQQGMLPAMSFDGKIILEEKNKVSMAPDGNGGLYRALAAQNIVEDME
QRGIWSIHVYCVDNILVKVADPRFIGFCIQKGADCGAKVVEKTNPTEPVGVVCRVDGVYQ
VVEYSEISLATAQKRSSDGRLLFNAGNIANHFFTVPFLRDVVNVYEPQLQHHVAQKKIPY
VDTQGQLIKPDKPNGIKMEKFVFDIFQFAKKFVVYEVLREDEFSPLKNADSQNGKDNPTT
ARHALMSLHHCWVLNAGGHFIDENGSRLPAIPRLKDANDVPIQCEISPLISYAGEGLESY
VADKEFHAPLIIDENGVHELVKNGI

• UDPGP (PF01704 )

• None

• None

1. SubName: cDNA, FLJ92520, Homo sapiens uncharacterized hematopoietic stem/progenitor cellsprotein MDS031 (MDS031), mRNA

MKCVFVTVGTTSFDDLIACVSAPDSLQKIESLGYNRLILQIGRGTVVPEPFSTESFTLDV
YRYKDSLKEDIQKADLVISHAGAGSCLETLEKGKPLVVVINEKLMNNHQLELAKQLHKEG
HLFYCTCSTLPGLLQSMDLSTLKCYPPGQPEKFSAFLDKVVGLQK

• Glyco_tran_28_C (PF04101 )

• None

• None

MRFRIYKRKVLILTLVVAACGFVLWSSNGRQRKNEALAPPLLDAEPARGAGGRGGDHPSV
AVGIRRVSNVSAASLVPAVPQPEADNLTLRYRSLVYQLNFDQTLRNVDKAGTWAPRELVL
VVQVHNRPEYLRLLLDSLRKAQGIDNVLVIFSHDFWSTEINQLIAGVNFCPVLQVFFPFS
IQLYPNEFPGSDPRDCPRDLPKNAALKLGCINAEYPDSFGHYREAKFSQTKHHWWWKLHF
VWERVKILRDYAGLILFLEEDHYLAPDFYHVFKKMWKLKQQECPECDVLSLGTYSASRSF
YGMADKVDVKTWKSTEHNMGLALTRNAYQKLIECTDTFCTYDDYNWDWTLQYLTVSCLPK
FWKVLVPQIPRIFHAGDCGMHHKKTCRPSTQSAQIESLLNNNKQYMFPETLTISEKFTVV
AISPPRKNGGWGDIRDHELCKSYRRLQ

• MGAT2 (PF05060 )

• None

• None

MRCCHICKLPGRVMGIRVLRLSLVVILVLLLVAGALTALLPSVKEDKMLMLRREIKSQGK
STMDSFTLIMQTYNRTDLLLKLLNHYQAVPNLHKVIVVWNNIGEKAPDELWNSLGPHPIP
VIFKQQTANRMRNRLQVFPELETNAVLMVDDDTLISTPDLVFAFSVWQQFPDQIVGFVPR
KHVSTSSGIYSYGSFEMQAPGSGNGDQYSMVLIGASFFNSKYLELFQRQPAAVHALIDDT
QNCDDIAMNFIIAKHIGKTSGIFVKPVNMDNLEKETNSGYSGMWHRAEHALQRSYCINKL
VNIYDSMPLRYSNIMISQFGFPYANYKRKI

• Glyco_transf_64 (PF09258 )

• None

• None

MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPD
ALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYP
QQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQS
LHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD
HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH
GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVML
SNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF
TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIE
GESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD
NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFL
VSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHS
QMRLDPVLFKDQVSILRKKYRDIERL

• Exostosin (PF03016 )
• Glyco_transf_64 (PF09258 )

• None

• None

1. Asparagine-linked glycosylation 13 homolog
2. Glycosyltransferase 28 domain-containing protein 1

MKCVFVTVGTTSFDDLIACVSAPDSLQKIESLGYNRLILQIGRGTVVPEPFSTESFTLDV
YRYKDSLKEDIQKADLVISHAGAGSCLETLEKGKPLVVVINEKLMNNHQLELAKQLHKEG
HLFYCTCRVLTCPGQAKSIASAPGKCQDSAALTSTAFSGLDFGLLSGYLHKQALVTATHP
TCTLLFPSCHAFFPLPLTPTLYKMHKGWKNYCSQKSLNEASMDEYLGSLGLFRKLTAKDA
SCLFRAISEQLFCSQVHHLEIRKACVSYMRENQQTFESYVEGSFEKYLERLGDPKESAGQ
LEIRALSLIYNRDFILYRFPGKPPTYVTDNGYEDKILLCYSSSGHYDSVYSKQFQSSAAV
CQAVLYEILYKDVFVVDEEELKTAIKLFRSGSKKNRNNAVTGSEDAHTDYKSSNQNRMEE
WGACYNAENIPEGYNKGTEETKSPENPSKMPFPYKVLKALDPEIYRNVEFDVWLDSRKEL
QKSDYMEYAGRQYYLGDKCQVCLESEGRYYNAHIQEVGNENNSVTVFIEELAEKHVVPLA
NLKPVTQVMSVPAWNAMPSRKGRGYQKMPGGYVPEIVISEMDIKQQKKMFKKIRGKEVYM
TMAYGKGDPLLPPRLQHSMHYGHDPPMHYSQTAGNVMSNEHFHPQHPSPRQGRGYGMPRN
SSRFINRHNMPGPKVDFYPGPGKRCCQSYDNFSYRSRSFRRSHRQMSCVNKESQYGFTPG
NGQMPRGLEETITFYEVEEGDETAYPTLPNHGGPSTMVPATSGYCVGRRGHSSGKQTLNL
EEGNGQSENGRYHEEYLYRAEPDYETSGVYSTTASTANLSLQDRKSCSMSPQDTVTSYNY
PQKMMGNIAAVAASCANNVPAPVLSNGAAANQAISTTSVSSQNAIQPLFVSPPTHGRPVI
ASPSYPCHSAIPHAGASLPPPPPPPPPPPPPPPPPPPPPPPPPPPALDVGETSNLQPPPP
LPPPPYSCDPSGSDLPQDTKVLQYYFNLGLQCYYHSYWHSMVYVPQMQQQLHVENYPVYT
EPPLVDQTVPQCYSEVRREDGIQAEASANDTFPNADSSSVPHGAVYYPVMSDPYGQPPLP
GFDSCLPVVPDYSCVPPWHPVGTAYGGSSQIHGAINPGPIGCIAPSPPASHYVPQGM

• UDP-N-acetyl-D-glucosamine + N-acetyl-D-glucosaminyl-diphosphodolichol = UDP + N,N'-diacetylchitobiosyl-diphosphodolichol [RN:R04494 R05970]

• Glyco_tran_28_C (PF04101 )
• OTU (PF02338 )

• None

• None

ATGAAGTGCGTGTTTGTTACCGTAGGGACCACCAGCTTTGACGACCTCATTGCGTGTGTG
TCGGCGCCCGACAGTCTGCAAAAAATCGAGAGCCTTGGTTACAACCGACTTATCCTGCAA
ATTGGTAGAGGAACGGTGGTACCTGAACCCTTCAGTACTGAGTCGTTTACTCTGGATGTT
TACAGGTACAAGGATTCCTTGAAAGAAGACATTCAGAAAGCAGATCTTGTTATTAGTCAC
GCAGGTGCAGGAAGCTGTTTGGAGACTCTGGAAAAAGGAAAGCCACTCGTAGTGGTTATA
AACGAAAAGTTGATGAACAATCATCAGCTGGAACTGGCAAAGCAGCTACACAAAGAGGGT
CATCTCTTCTATTGTACCTGCAGGGTCCTGACTTGTCCTGGGCAAGCCAAGTCCATTGCT
TCTGCTCCTGGGAAGTGCCAAGATTCTGCAGCGCTGACTTCAACTGCCTTTTCAGGCCTA
GACTTTGGGCTGCTTTCCGGATACCTGCATAAGCAAGCCCTTGTTACTGCTACCCATCCT
ACCTGCACCCTGCTTTTTCCCTCTTGCCACGCTTTTTTTCCTCTCCCTCTTACCCCCACC
CTGTACAAAATGCATAAAGGATGGAAAAACTACTGCAGCCAGAAGTCTTTGAATGAGGCA
TCAATGGATGAATATTTAGGCAGCTTAGGGCTGTTTCGAAAGCTGACTGCCAAGGATGCC
TCTTGCCTCTTTCGGGCCATTTCGGAGCAGTTGTTTTGCAGCCAGGTCCATCATTTGGAA
ATCAGGAAGGCTTGTGTCTCATATATGAGGGAAAATCAACAAACTTTTGAGTCTTATGTG
GAGGGATCTTTTGAGAAATACCTGGAACGGTTGGGAGATCCCAAGGAAAGTGCTGGCCAG
CTGGAAATAAGAGCTCTTTCTCTAATTTATAATCGGGATTTCATTCTTTATCGCTTTCCT
GGAAAACCTCCAACTTATGTCACAGATAATGGCTATGAAGACAAGATTCTACTCTGCTAC
TCAAGTAGTGGTCACTATGATTCTGTGTACTCAAAACAATTTCAGTCAAGTGCAGCTGTT
TGTCAGGCTGTATTGTACGAAATTCTCTATAAAGATGTGTTTGTTGTGGATGAAGAAGAG
TTGAAGACTGCGATTAAATTGTTTCGAAGTGGTTCTAAGAAGAACAGAAATAATGCTGTA
ACTGGAAGCGAGGATGCCCATACTGATTACAAGAGTTCAAATCAGAATAGGATGGAAGAG
TGGGGTGCCTGCTACAATGCTGAAAATATACCAGAGGGCTACAATAAAGGAACAGAAGAA
ACAAAGTCTCCAGAAAATCCATCAAAGATGCCCTTCCCCTATAAGGTGCTCAAAGCCCTG
GATCCAGAAATCTATCGTAATGTAGAATTTGATGTTTGGTTGGACAGCAGAAAAGAACTT
CAAAAATCTGATTACATGGAGTATGCTGGGAGACAGTACTATTTGGGAGACAAGTGTCAG
GTTTGCTTGGAATCAGAAGGAAGATATTATAATGCTCATATCCAGGAAGTTGGAAATGAG
AACAATTCAGTAACAGTCTTCATTGAAGAATTGGCGGAAAAGCATGTTGTTCCACTGGCT
AACTTAAAACCAGTTACCCAAGTGATGTCTGTTCCTGCCTGGAATGCTATGCCCAGTCGG
AAAGGAAGAGGTTACCAGAAAATGCCTGGGGGTTATGTCCCGGAAATAGTTATATCAGAG
ATGGACATAAAGCAACAGAAGAAGATGTTCAAGAAAATTCGAGGGAAAGAAGTTTACATG
ACTATGGCTTACGGCAAGGGAGACCCCCTCCTCCCACCCAGGCTGCAGCACAGTATGCAT
TATGGGCACGATCCTCCAATGCACTACTCACAGACAGCTGGCAATGTTATGTCTAATGAA
CATTTTCATCCTCAGCATCCATCTCCGAGACAAGGTCGGGGATATGGGATGCCCAGGAAT
TCATCTCGGTTTATAAACAGGCACAACATGCCGGGCCCTAAAGTTGATTTTTACCCAGGC
CCAGGTAAAAGGTGCTGCCAGAGCTATGATAACTTCTCTTATAGATCTCGTTCATTTAGA
CGTAGTCACCGCCAGATGAGTTGTGTGAATAAGGAGTCCCAGTATGGATTTACCCCAGGG
AATGGACAGATGCCCAGGGGCTTGGAAGAAACTATTACTTTTTATGAAGTTGAAGAAGGG
GATGAGACTGCTTATCCAACTTTACCTAATCATGGAGGTCCCTCTACAATGGTTCCTGCT
ACTTCAGGATACTGTGTTGGAAGGCGGGGACATAGCTCAGGCAAACAGACTTTGAATTTA
GAGGAGGGCAATGGCCAGAGTGAAAATGGGCGATATCATGAAGAATATCTTTATCGTGCA
GAGCCAGACTATGAAACTTCAGGTGTTTATAGCACAACTGCATCTACAGCAAACTTGTCT
CTTCAGGACAGAAAGTCATGTTCTATGTCTCCTCAGGACACAGTTACCTCATACAACTAC
CCCCAGAAGATGATGGGAAATATTGCAGCAGTTGCAGCTTCCTGTGCCAATAATGTTCCA
GCTCCAGTCTTATCTAACGGTGCAGCGGCTAATCAAGCTATTAGTACCACTTCAGTTTCC
TCACAGAATGCTATACAGCCTCTCTTTGTATCTCCACCTACACACGGCAGGCCAGTGATT
GCCTCACCATCCTATCCATGCCATTCTGCTATTCCTCATGCTGGTGCCTCTCTACCACCA
CCACCACCACCACCACCACCACCACCACCACCACCACCTCCTCCTCCTCCTCCTCCTCCT
CCTCCTCCTCCTCCTGCTCTTGATGTGGGAGAGACTTCAAACTTACAACCACCACCACCA
CTACCACCTCCACCTTATTCCTGTGATCCAAGCGGCAGTGATTTGCCTCAAGATACAAAA
GTTTTGCAGTACTATTTCAATCTAGGATTGCAGTGCTATTACCACAGCTACTGGCACTCC
ATGGTCTATGTGCCACAGATGCAGCAGCAGCTTCATGTAGAGAATTATCCAGTCTATACT
GAGCCACCTCTGGTAGATCAAACCGTTCCTCAATGCTACAGTGAGGTGAGGAGAGAAGAT
GGCATACAGGCGGAAGCATCAGCAAATGATACTTTTCCGAATGCTGATTCTTCATCTGTC
CCTCATGGAGCAGTCTATTATCCAGTAATGTCAGATCCCTATGGGCAGCCACCTTTGCCA
GGTTTTGACTCCTGCCTTCCGGTTGTGCCAGATTATTCCTGTGTTCCCCCCTGGCATCCA
GTTGGTACAGCATATGGTGGTTCTTCTCAAATTCATGGTGCTATAAATCCTGGGCCAATT
GGCTGTATTGCTCCATCTCCCCCAGCTTCTCATTATGTACCTCAGGGTATGTAA

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