1. 1-(dihydrogen phosphate) Galactitol
2. 1-phosphate a-D-Galactopyranose
3. D-Galactose 1-phosphate
4. Galactopyranose 1-phosphate
5. Galactose 1-phosphate
6. Galactose 1-phosphic acid
7. a-D-1-(dihydrogen phosphate) Galactopyranose
8. a-D-Galactopyranosyl phosphate
9. a-D-Galactose 1-phosphate
10. a-D-Galactosyl phosphate
11. alpha-D-1-(dihydrogen phosphate) Galactopyranose
12. alpha-D-Galactopyranosyl phosphate
13. alpha-D-Galactose 1-phosphate
14. alpha-D-Galactosyl phosphate

• Cytoplasm (Predicted from LogP)

• Blood

1. Endres W: Inherited metabolic diseases affecting the carrier. J Inherit Metab Dis. 1997 Mar;20(1):9-20. [PubMed ]
2. Ono H, Mawatari H, Mizoguchi N, Eguchi T, Sakura N, Hamakawa M: Transient galactosemia detected by neonatal mass screening. Pediatr Int. 1999 Jun;41(3):281-4. [PubMed ]
3. Guerrero NV, Singh RH, Manatunga A, Berry GT, Steiner RD, Elsas LJ 2nd: Risk factors for premature ovarian failure in females with galactosemia. J Pediatr. 2000 Dec;137(6):833-41. [PubMed ]
4. Schaub J, Remberger K, Endres W, Bremer HJ: Galactosemia with endogenous production of galactose-1-phosphate and with cystic fibrosis-like appearance at autopsy. Helv Paediatr Acta. 1976 Jun;31(1):67-76. [PubMed ]
5. Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B: [Clinical and biochemical diagnosis of galactosemia among our cases] Probl Med Wieku Rozwoj. 1979;8:63-9. [PubMed ]
6. Dahlqvist A: A fluorometric method for the assay of galactose-1-phosphate in red blood cells. J Lab Clin Med. 1971 Dec;78(6):931-8. [PubMed ]
7. Berry GT, Palmieri M, Gross KC, Acosta PB, Henstenburg JA, Mazur A, Reynolds R, Segal S: The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. J Inherit Metab Dis. 1993;16(1):91-100. [PubMed ]
8. Bozkowa K, Duchnowska A, Chojnacki T, Mankowski T: [New radioisotope method of quantitative determination of galactose-1-phosphate in red blood cells in galactosemia] Pol Tyg Lek. 1975 Dec 22;30(51):2123-6. [PubMed ]
9. Wharton CH, Berry HK, Bofinger MK: Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote. Clin Genet. 1978 Feb;13(2):171-5. [PubMed ]
10. Ning C, Reynolds R, Chen J, Yager C, Berry GT, McNamara PD, Leslie N, Segal S: Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res. 2000 Aug;48(2):211-7. [PubMed ]
11. Gitzelmann R, Steinmann B, Mitchell B, Haigis E: Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. Helv Paediatr Acta. 1977 Apr;31(6):441-52. [PubMed ]
12. Barbouth D, Slepak T, Klapper H, Lai K, Elsas LJ: Prevention of a molecular misdiagnosis in galactosemia. Genet Med. 2006 Mar;8(3):178-82. [PubMed ]
13. Mankowski T, Radomyska B, Zbieg-Sendecka E: Preliminary results of UDP galactose pyrophosphorylase in the erythrocytes of healthy persons and in patients with galactosaemia. Mater Med Pol. 1990 Jul-Sep;22(3):191-3. [PubMed ]
14. Moller HE, Ullrich K, Vermathen P, Schuierer G, Koch HG: In vivo study of brain metabolism in galactosemia by 1H and 31P magnetic resonance spectroscopy. Eur J Pediatr. 1995;154(7 Suppl 2):S8-13. [PubMed ]
15. Barth CA, Kopra N: Oral intake of glucose plus galactose and erythrocyte galactose-1-phosphate. A nutritional evaluation of hydrolyzed lactose. Z Ernahrungswiss. 1986 Sep;25(3):171-9. [PubMed ]
16. Pesce MA, Bodourian SH: Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity. Clin Chem. 1982 Feb;28(2):301-5. [PubMed ]
17. Schadewaldt P, Kamalanathan L, Hammen HW, Wendel U: Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol Genet Metab. 2004 Jan;81(1):31-44. [PubMed ]
18. Pesce MA, Bodourian SH, Nicholson JF: A new microfluorometric method for the measurement of galactose-1-phosphate in erythrocytes. Clin Chim Acta. 1982 Feb 5;118(2-3):177-89. [PubMed ]
19. Wikipedia

1. Galactose-1-phosphate uridylyltransferase
2. Galactokinase
3. Galactokinase 2 variant
4. Galactose-1-phosphate uridylyltransferase

1. Gal-1-P uridylyltransferase
2. UDP-glucose--hexose-1-phosphate uridylyltransferase

MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQ
LLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAK
SARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGC
SNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGW
HGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRA
LPEVHYHLGQKDRETATIA

• Galactose Metabolism (map00052 )
• Nucleotide Sugars Metabolism (map00520 )

• UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-galactose [RN:R00955]

• GalP_UDP_tr_C (PF02744 )
• GalP_UDP_transf (PF01087 )

• None

• None

ATGTCGCGCAGTGGAACCGATCCTCAGCAACGCCAGCAGGCGTCAGAGGCGGACGCCGCA
GCAGCAACCTTCCGGGCAAACGACCATCAGCATATCCGCTACAACCCGCTGCAGGATGAG
TGGGTGCTGGTGTCAGCTCACCGCATGAAGCGGCCCTGGCAGGGTCAAGTGGAGCCCCAG
CTTCTGAAGACAGTGCCCCGCCATGACCCTCTCAACCCTCTGTGTCCTGGGGCCATCCGA
GCCAACGGAGAGGTGAATCCCCAGTACGATAGCACCTTCCTGTTTGACAACGACTTCCCA
GCTCTGCAGCCTGATGCCCCCAGTCCAGGACCCAGTGATCATCCCCTTTTCCAAGCAAAG
TCTGCTCGAGGAGTCTGTAAGGTCATGTGCTTCCACCCCTGGTCGGATGTAACGCTGCCA
CTCATGTCGGTCCCTGAGATCCGGGCTGTTGTTGATGCATGGGCCTCAGTCACAGAGGAG
CTGGGTGCCCAGTACCCTTGGGTGCAGATCTTTGAAAACAAAGGTGCCATGATGGGCTGT
TCTAACCCCCACCCCCACTGCCAGGTATGGGCCAGCAGTTTCCTGCCAGATATTGCCCAG
CGTGAGGAGCGATCTCAGCAGGCCTATAAGAGTCAGCATGGAGAGCCCCTGCTAATGGAG
TACAGCCGCCAGGAGCTACTCAGGAAGGAACGTCTGGTCCTAACCAGTGAGCACTGGTTA
GTACTGGTCCCCTTCTGGGCAACATGGCCCTACCAGACACTGCTGCTGCCCCGTCGGCAT
GTGCGGCGGCTACCTGAGCTGACCCCTGCTGAGCGTGATGATCTAGCCTCCATCATGAAG
AAGCTCTTGACCAAGTATGACAACCTCTTTGAGACGTCCTTTCCCTACTCCATGGGCTGG
CATGGGGCTCCCACAGGATCAGAGGCTGGGGCCAACTGGAACCATTGGCAGCTGCACGCT
CATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTACGAA
ATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTGAGCAGGCTGCAGAGAGACTAAGGGCA
CTTCCTGAGGTTCATTACCACCTGGGGCAGAAGGACAGGGAGACAGCAACCATCGCCTGA

1. Reichardt JK, Berg P: Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase. Mol Biol Med. 1988 Apr;5(2):107-22. [PubMed ]
2. Flach JE, Reichardt JK, Elsas LJ 2nd: Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase. Mol Biol Med. 1990 Aug;7(4):365-9. [PubMed ]
3. Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL, Elsas LJ: The human galactose-1-phosphate uridyltransferase gene. Genomics. 1992 Oct;14(2):474-80. [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. Reichardt JK: Genetic basis of galactosemia. Hum Mutat. 1992;1(3):190-6. [PubMed ]
7. Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ 2nd, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda MD: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat. 1999;13(6):417-30. [PubMed ]
8. Reichardt JK, Packman S, Woo SL: Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Am J Hum Genet. 1991 Oct;49(4):860-7. [PubMed ]
9. Reichardt JK, Woo SL: Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2633-7. [PubMed ]
10. Reichardt JK, Levy HL, Woo SL: Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. Biochemistry. 1992 Jun 23;31(24):5430-3. [PubMed ]
11. Reichardt JK, Belmont JW, Levy HL, Woo SL: Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. Genomics. 1992 Mar;12(3):596-600. [PubMed ]
12. Reichardt JK, Novelli G, Dallapiccola B: Molecular characterization of the H319Q galactosemia mutation. Hum Mol Genet. 1993 Mar;2(3):325-6. [PubMed ]
13. Lin HC, Kirby LT, Ng WG, Reichardt JK: On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT). Hum Genet. 1994 Feb;93(2):167-9. [PubMed ]
14. Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP: Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet. 1995 Mar;56(3):630-9. [PubMed ]
15. Fridovich-Keil JL, Langley SD, Mazur LA, Lennon JC, Dembure PP, Elsas JL 2nd: Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. Am J Hum Genet. 1995 Mar;56(3):640-6. [PubMed ]
16. Sommer M, Gathof BS, Podskarbi T, Giugliani R, Kleinlein B, Shin YS: Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. J Inherit Metab Dis. 1995;18(5):567-76. [PubMed ]
17. Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin HC, Reichardt JK, Isshiki G: Molecular characterization of galactosemia (type 1) mutations in Japanese. Hum Mutat. 1995;6(1):36-43. [PubMed ]
18. Shin YS, Gathof BS, Podskarbi T, Sommer M, Giugliani R, Gresser U: Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia. Eur J Pediatr. 1996 May;155(5):393-7. [PubMed ]
19. Maceratesi P, Sangiuolo F, Novelli G, Ninfali P, Magnani M, Reichardt JK, Dallapiccola B: Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency. Hum Mutat. 1996;8(4):369-72. [PubMed ]
20. Ninfali P, Bresolin N, Dallapiccola B, Novelli G: Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle. J Neurol. 1996 Jan;243(1):102-3. [PubMed ]
21. Greber-Platzer S, Guldberg P, Scheibenreiter S, Item C, Schuller E, Patel N, Strobl W: Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Hum Mutat. 1997;10(1):49-57. [PubMed ]
22. Seyrantepe V, Ozguc M, Coskun T, Ozalp I, Reichardt JK: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. Hum Mutat. 1999;13(4):339. [PubMed ]
23. Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR: Identification of novel mutations in classical galactosemia. Hum Mutat. 2005 May;25(5):502. [PubMed ]

1. Galactose kinase

MAALRQPQVAELLAEARRAFREEFGAEPELAVSAPGRVNLIGEHTDYNQGLVLPMALELM
TVLVGSPRKDGLVSLLTTSEGADEPQRLQFPLPTAQRSLEPGTPRWANYVKGVIQYYPAA
PLPGFSAVVVSSVPLGGGLSSSASLEVATYTFLQQLCPDSGTIAARAQVCQQAEHSFAGM
PCGIMDQFISLMGQKGHALLIDCRSLETSLVPLSDPKLAVLITNSNVRHSLASSEYPVRR
RQCEEVARALGKESLREVQLEELEAARDLVSKEGFRRARHVVGEIRRTAQAAAALRRGDY
RAFGRLMVESHRSLRDDYEVSCPELDQLVEAALAVPGVYGSRMTGGGFGGCTVTLLEASA
APHAMRHIQEHYGGTATFYLSQAADGAKVLCL

• Galactose Metabolism (map00052 )

• ATP + D-galactose = ADP + alpha-D-galactose 1-phosphate [RN:R01092]

• GalKase_gal_bdg (PF10509 )
• GHMP_kinases_C (PF08544 )
• GHMP_kinases_N (PF00288 )

• None

• None

ATGGCTGCTTTGAGACAGCCCCAGGTCGCGGAGCTGCTGGCCGAGGCCCGGCGAGCCTTC
CGGGAGGAGTTCGGGGCCGAGCCCGAGCTGGCCGTGTCAGCGCCGGGCCGCGTCAACCTC
ATCGGGGAACACACGGACTACAACCAGGGCCTGGTGCTGCCTATGGCTCTGGAGCTCATG
ACGGTGCTGGTGGGCAGCCCCCGCAAGGATGGGCTGGTGTCTCTCCTCACCACCTCTGAG
GGTGCCGATGAGCCCCAGCGGCTGCAGTTTCCACTGCCCACAGCCCAGCGCTCGCTGGAG
CCTGGGACTCCTCGGTGGGCCAACTATGTCAAGGGAGTGATTCAGTACTACCCAGCTGCC
CCCCTCCCTGGCTTCAGTGCAGTGGTGGTCAGCTCAGTGCCCCTGGGGGGTGGCCTGTCC
AGCTCAGCATCCTTGGAAGTGGCCACGTACACCTTCCTCCAGCAGCTCTGTCCAGACTCG
GGCACAATAGCTGCCCGCGCCCAGGTGTGTCAGCAGGCCGAGCACAGCTTCGCAGGGATG
CCCTGTGGCATCATGGACCAGTTCATCTCACTTATGGGACAGAAAGGCCACGCGCTGCTC
ATTGACTGCAGGTCCTTGGAGACCAGCCTGGTGCCACTCTCGGACCCCAAGCTGGCCGTG
CTCATCACCAACTCTAATGTCCGCCACTCCCTGGCCTCCAGCGAGTACCCTGTGCGGCGG
CGCCAATGTGAAGAAGTGGCCCGGGCGCTGGGCAAGGAAAGCCTCCGGGAGGTACAACTG
GAAGAGCTAGAGGCTGCCAGGGACCTGGTGAGCAAAGAGGGCTTCCGGCGGGCCCGGCAC
GTGGTGGGGGAGATTCGGCGCACGGCCCAGGCAGCGGCCGCCCTGAGACGTGGCGACTAC
AGAGCCTTTGGCCGCCTCATGGTGGAGAGCCACCGCTCACTCAGAGACGACTATGAGGTG
AGCTGCCCAGAGCTGGACCAGCTGGTGGAGGCTGCGCTTGCTGTGCCTGGGGTTTATGGC
AGCCGCATGACGGGCGGTGGCTTCGGTGGCTGCACGGTGACACTGCTGGAGGCCTCCGCT
GCTCCCCACGCCATGCGGCACATCCAGGAGCACTACGGCGGGACTGCCACCTTCTACCTC
TCTCAAGCAGCCGATGGAGCCAAGGTGCTGTGCTTGTGA

1. Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ: Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet. 1995 Jul;10(3):307-12. [PubMed ]
2. Bergsma DJ, Ai Y, Skach WR, Nesburn K, Anoia E, Van Horn S, Stambolian D: Fine structure of the human galactokinase GALK1 gene. Genome Res. 1996 Oct;6(10):980-5. [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. 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. Ai Y, Basu M, Bergsma DJ, Stambolian D: Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2. Biochem Biophys Res Commun. 1995 Jul 17;212(2):687-91. [PubMed ]
6. Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R: A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet. 1999 Nov;65(5):1299-307. [PubMed ]
7. Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D: Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat. 2000;15(5):447-53. [PubMed ]
8. Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T: A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians. Am J Hum Genet. 2001 Apr;68(4):1036-42. Epub 2001 Feb 23. [PubMed ]
9. Hunter M, Angelicheva D, Levy HL, Pueschel SM, Kalaydjieva L: Novel mutations in the GALK1 gene in patients with galactokinase deficiency. Hum Mutat. 2001;17(1):77-8. [PubMed ]
10. Timson DJ, Reece RJ: Functional analysis of disease-causing mutations in human galactokinase. Eur J Biochem. 2003 Apr;270(8):1767-74. [PubMed ]
11. Maraini G, Hejtmancik JF, Shiels A, Mackay DS, Aldigeri R, Jiao XD, Williams SL, Sperduto RD, Reed G: Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. Mol Vis. 2003 Aug 26;9:397-400. [PubMed ]
12. Sangiuolo F, Magnani M, Stambolian D, Novelli G: Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004 Apr;23(4):396. [PubMed ]

MPVLYDRLLKLKEMFNSKFGSIPKFYVRAPGRVNIIGEHIDYCGYSVLPMAVEQDVLIAV
EPVKTYALQLANTNPLYPDFSTSANNIQIDKTKPLWHNYFLCGLKGIQEHFGLSNLTGMN
CLVDGNIPPSSGLSSSSALVCCAGLVTLTVLGRNLSKVELAEICAKSERYIGTEGGGMDQ
SISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRLAA
KLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEEL
RTQILSPNTQDVLIFKLYQRAKHVYSEAARVLQFKKICEEAPENMVQLLGELMNQSHMSC
RDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYYQR
SDGSLAPEKQSLFATKPGGGALVLLEA

• GalKase_gal_bdg (PF10509 )
• GHMP_kinases_C (PF08544 )
• GHMP_kinases_N (PF00288 )

• None

• None

ATGCCCGTCCTATATGACAGGTTACTGAAGCTAAAGGAGATGTTTAACTCCAAGTTTGGA
TCTATTCCCAAGTTTTATGTTCGAGCACCAGGAAGAGTCAACATAATAGGAGAGCATATA
GATTATTGTGGATATTCTGTTCTTCCTATGGCTGTAGAACAAGATGTGCTAATAGCTGTA
GAACCTGTGAAAACGTACGCTCTCCAACTGGCCAATACAAATCCCTTGTATCCGGACTTC
AGTACTAGTGCTAATAACATCCAGATTGATAAAACCAAGCCTTTGTGGCACAACTATTTC
TTATGTGGACTTAAAGGAATTCAGGAACACTTTGGTCTTAGTAACCTGACTGGAATGAAC
TGCCTGGTAGATGGAAATATCCCACCAAGTTCTGGCCTCTCCAGCTCCAGTGCTTTGGTC
TGTTGTGCTGGCTTGGTGACGCTCACAGTGCTGGGAAGGAATCTATCCAAGGTGGAACTT
GCAGAAATCTGTGCCAAGAGTGAGCGTTACATTGGCACTGAAGGAGGAGGCATGGACCAG
TCTATATCATTTCTTGCAGAAGAAGGAACTGCCAAGTTGATAGAATTTAGTCCTCTGAGG
GCAACCGATGTAAAACTCCCAAGTGGAGCAGTGTTTGTGATTGCCAACAGTTGTGTGGAG
ATGAATAAGGCAGCAACTTCCCATTTCAATATCAGGGTGATGGAGTGTCGGCTGGCTGCG
AAGCTCCTGGCTAAATACAAAAGCTTGCAATGGGACAAAGTACTGAGGCTGGAGGAGGTG
CAGGCTAAACTAGGGATTAGTCTAGAAGAAATGCTGTTGGTCACAGAAGATGCCCTTCAT
CCTGAACCCTATAACCCTGAGGAGATCTGCAGGTGTCTGGGAATTAGCCTGGAGGAACTC
CGAACCCAAATCCTGAGTCCAAACACTCAAGATGTGCTCATCTTCAAACTCTATCAGCGG
GCAAAGCATGTGTACAGCGAGGCTGCGCGAGTGCTCCAGTTTAAGAAGATATGTGAAGAA
GCACCTGAAAACATGGTCCAGCTGCTGGGAGAGTTGATGAACCAGAGCCACATGAGCTGC
CGGGACATGTATGAGTGCAGCTGCCCCGAGCTGGATCAGCTGGTGGACATCTGTCGGAAG
TTTGGGGCTCAAGGGTCACGACTTACTGGAGCAGGATGGGGAGGCTGCACAGTATCAATG
GTACCTGCGGACAAGCTGCCCAGCTTTCTAGCAAATGTGCACAAAGCTTATTACCAGAGG
AGTGATGGAAGCTTAGCACCGGAGAAGCAAAGTTTGTTTGCTACCAAACCTGGAGGTGGG
GCTTTGGTTTTGCTTGAGGCCTGA

MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQ
LLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAK
SARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGC
SNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGW
HGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRA
LPEVHYHLGQKDRETATIA

• GalP_UDP_tr_C (PF02744 )
• GalP_UDP_transf (PF01087 )

• None

• None