1. Alpha-D-1,6-bis(dihydrogen phosphate) Glucopyranose
2. Glucose 1,6-diphosphate
3. a-D-Glucose 1,6-bis(dihydrogen phosphate)
4. a-D-Glucose 1,6-bisphosphate
5. a-D-Glucose 1,6-diphosphate
6. D-Glucose 1,6-diphosphate
7. Glucose 1,6-bisphosphate
8. Alpha-delta-1,6-bis(dihydrogen phosphate) Glucopyranose
9. alpha-delta-Glucose 1,6-bis(dihydrogen phosphate)
10. alpha-delta-Glucose 1,6-bisphosphate
11. alpha-delta-Glucose 1,6-diphosphate
12. delta-Glucose 1,6-diphosphate
13. alpha-D-Glucose 1,6-bis(dihydrogen phosphate)
14. alpha-D-Glucose 1,6-bisphosphate
15. alpha-D-Glucose 1,6-diphosphate

• Blood

1. Phosphomannomutase 2
2. Cytochrome c oxidase subunit 5A, mitochondrial
3. Phosphoglucomutase-2
4. Glucose 1,6-bisphosphate synthase
5. Phosphomannomutase 1, isoform CRA_a
6. cDNA FLJ78512, highly similar to Homo sapiens phosphomannomutase 2 (PMM2), mRNA (Phosphomannomutase 2, isoform CRA_b)

1. PMM 2

MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDV
VEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFI
EFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF
DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRI
CELLFS

• Fructose and Mannose Metabolism (map00051 )

• alpha-D-mannose 1-phosphate = D-mannose 6-phosphate [RN:R01818]

• PMM (PF03332 )

• None

• None

ATGGCAGCGCCTGGCCCAGCGCTCTGCCTCTTCGACGTGGATGGGACCCTCACCGCCCCG
CGGCAGAAAATTACCAAAGAAATGGATGACTTCCTACAAAAATTGAGGCAGAAGATCAAA
ATCGGAGTGGTAGGCGGATCGGACTTTGAGAAAGTGCAGGAGCAACTGGGAAATGATGTG
GTTGAAAAATACGATTATGTGTTTCCAGAAAATGGCTTGGTAGCATACAAAGATGGGAAA
CTCTTGTGTAGACAGAATATTCAAAGTCATCTGGGTGAGGCCCTAATCCAAGATTTAATC
AACTACTGTCTGAGCTACATTGCGAAAATTAAACTCCCGAAGAAGAGGGGTACTTTCATT
GAATTCCGAAATGGGATGTTAAACGTGTCCCCTATTGGAAGAAGCTGCAGCCAAGAAGAA
CGCATTGAGTTCTACGAACTCGATAAAAAAGAAAATATAAGACAAAAGTTTGTAGCAGAT
CTACGGAAAGAGTTTGCTGGAAAAGGCCTCACGTTTTCCATAGGAGGCCAGATCAGCTTT
GATGTCTTTCCTGATGGATGGGACAAGAGATACTGTCTGCGACATGTGGAAAATGACGGT
TATAAGACCATTTATTTCTTTGGAGACAAAACTATGCCAGGTGGCAATGACCATGAGATC
TTCACAGACCCCAGAACCATGGGCTACTCCGTGACAGCGCCTGAGGACACGCGCAGGATC
TGTGAACTGCTGTTCTCCTAA

1. Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E: Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) Nat Genet. 1997 May;16(1):88-92. [PubMed ]
2. Schollen E, Pardon E, Heykants L, Renard J, Doggett NA, Callen DF, Cassiman JJ, Matthijs G: Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. Hum Mol Genet. 1998 Feb;7(2):157-64. [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. Silvaggi NR, Zhang C, Lu Z, Dai J, Dunaway-Mariano D, Allen KN: The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. J Biol Chem. 2006 May 26;281(21):14918-26. Epub 2006 Mar 15. [PubMed ]
6. Levin EJ, Kondrashov DA, Wesenberg GE, Phillips GN Jr: Ensemble refinement of protein crystal structures: validation and application. Structure. 2007 Sep;15(9):1040-52. [PubMed ]
7. Matthijs G, Schollen E, Heykants L, Grunewald S: Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). Mol Genet Metab. 1999 Oct;68(2):220-6. [PubMed ]
8. Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J: Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet. 1998 Mar;62(3):542-50. [PubMed ]
9. Kjaergaard S, Skovby F, Schwartz M: Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. Eur J Hum Genet. 1998 Jul-Aug;6(4):331-6. [PubMed ]
10. Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y: Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. Clin Genet. 1999 Jan;55(1):50-4. [PubMed ]
11. Kjaergaard S, Skovby F, Schwartz M: Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. Eur J Hum Genet. 1999 Dec;7(8):884-8. [PubMed ]
12. Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N: Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping. Hum Mutat. 1999 Dec;14(6):543-4. [PubMed ]
13. Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B: Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat. 2000 Nov;16(5):386-94. [PubMed ]
14. Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlstrom J, Stibler H, Kristiansson B, Martinsson T: PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. Hum Mutat. 2000 Nov;16(5):395-400. [PubMed ]
15. Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B: Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab Dis. 2000 Mar;23(2):162-74. [PubMed ]
16. Westphal V, Enns GM, McCracken MF, Freeze HH: Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. Mol Genet Metab. 2001 May;73(1):71-6. [PubMed ]
17. Schollen E, Martens K, Geuzens E, Matthijs G: DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). Eur J Hum Genet. 2002 Oct;10(10):643-8. [PubMed ]
18. Le Bizec C, Vuillaumier-Barrot S, Barnier A, Dupre T, Durand G, Seta N: A new insight into PMM2 mutations in the French population. Hum Mutat. 2005 May;25(5):504-5. [PubMed ]
19. Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sanchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G: Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab. 2007 Apr;90(4):408-13. Epub 2007 Feb 16. [PubMed ]

1. Cytochrome c oxidase polypeptide Va

MLGAALRRCAVAATTRADPRGLLHSARTPGPAVAIQSVRCYSHGSQETDEEFDARWVTYF
NKPDIDAWELRKGINTLVTYDMVPEPKIIDAALRACRRLNDFASTVRILEVVKDKAGPHK
EIYPYVIQELRPTLNELGISTPEELGLDKV

• Oxidative phosphorylation (map00190 )

• COX5A (PF02284 )

• None

• None

ATGCTGGGCGCCGCTCTCCGCCGCTGCGCTGTGGCCGCAACCACCCGGGCCGACCCTCGA
GGCCTCCTGCACTCCGCCCGGACCCCCGGCCCCGCCGTGGCTATCCAGTCAGTTCGCTGC
TATTCCCATGGGTCACAGGAGACAGATGAGGAGTTTGATGCTCGCTGGGTAACATACTTC
AACAAGCCAGATATAGATGCCTGGGAATTGCGTAAAGGGATAAACACACTTGTTACCTAT
GATATGGTTCCAGAGCCCAAAATCATTGATGCTGCTTTGCGGGCATGCAGACGGTTAAAT
GATTTTGCTAGTACAGTTCGTATCCTAGAGGTTGTTAAGGACAAAGCAGGACCTCATAAG
GAAATCTACCCCTATGTCATCCAGGAACTTAGACCAACTTTAAATGAACTGGGAATCTCC
ACTCCGGAGGAACTGGGCCTTGACAAAGTGTAA

1. Rizzuto R, Nakase H, Zeviani M, DiMauro S, Schon EA: Subunit Va of human and bovine cytochrome c oxidase is highly conserved. Gene. 1988 Sep 30;69(2):245-56. [PubMed ]
2. Uddin M, Opazo JC, Wildman DE, Sherwood CC, Hof PR, Goodman M, Grossman LI: Molecular evolution of the cytochrome c oxidase subunit 5A gene in primates. BMC Evol Biol. 2008 Jan 15;8:8. [PubMed ]
3. Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L 3rd, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C: Analysis of the DNA sequence and duplication history of human chromosome 15. Nature. 2006 Mar 30;440(7084):671-5. [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. Hughes GJ, Frutiger S, Paquet N, Pasquali C, Sanchez JC, Tissot JD, Bairoch A, Appel RD, Hochstrasser DF: Human liver protein map: update 1993. Electrophoresis. 1993 Nov;14(11):1216-22. [PubMed ]
6. Kovalyov LI, Shishkin SS, Efimochkin AS, Kovalyova MA, Ershova ES, Egorov TA, Musalyamov AK: The major protein expression profile and two-dimensional protein database of human heart. Electrophoresis. 1995 Jul;16(7):1160-9. [PubMed ]

1. PGM 2
2. Glucose phosphomutase 2
3. Phosphodeoxyribomutase
4. Phosphopentomutase

MAAPEGSGLGEDARLDQETAQWLRWDKNSLTLEAVKRLIAEGNKEELRKCFGARMEFGTA
GLRAAMGPGISRMNDLTIIQTTQGFCRYLEKQFSDLKQKGIVISFDARAHPSSGGSSRRF
ARLAATTFISQGIPVYLFSDITPTPFVPFTVSHLKLCAGIMITASHNPKQDNGYKVYWDN
GAQIISPHDKGISQAIEENLEPWPQAWDDSLIDSSPLLHNPSASINNDYFEDLKKYCFHR
SVNRETKVKFVHTSVHGVGHSFVQSAFKAFDLVPPEAVPEQKDPDPEFPTVKYPNPEEGK
GVLTLSFALADKTKARIVLANDPDADRLAVAEKQDSGEWRVFSGNELGALLGWWLFTSWK
EKNQDRSALKDTYMLSSTVSSKILRAIALKEGFHFEETLTGFKWMGNRAKQLIDQGKTVL
FAFEEAIGYMCCPFVLDKDGVSAAVISAELASFLATKNLSLSQQLKAIYVEYGYHITKAS
YFICHDQETIKKLFENLRNYDGKNNYPKACGKFEISAIRDLTTGYDDSQPDKKAVLPTSK
SSQMITFTFANGGVATMRTSGTEPKIKYYAELCAPPGNSDPEQLKKELNELVSAIEEHFF
QPQKYNLQPKAD

• Galactose Metabolism (map00052 )
• Gluconeogenesis (map00010 )
• Pentose Pathway (map00030 )
• Starch and Sucrose Metabolism (map00500 )
• Streptomycin biosynthesis (map00521 )

• alpha-D-ribose 1-phosphate = D-ribose 5-phosphate [RN:R01057]

• PGM_PMM_I (PF02878 )
• PGM_PMM_II (PF02879 )
• PGM_PMM_III (PF02880 )
• PGM_PMM_IV (PF00408 )

• None

• None

ATGGCGGCTCCAGAAGGCAGCGGTCTAGGCGAGGACGCCCGGCTGGACCAGGAGACCGCC
CAGTGGCTGCGCTGGGACAAGAATTCCTTAACTTTGGAGGCAGTGAAACGACTAATAGCA
GAAGGTAATAAAGAAGAACTACGAAAATGTTTTGGGGCCCGAATGGAGTTTGGGACAGCT
GGCCTCCGAGCTGCTATGGGACCTGGAATTTCTCGTATGAATGACTTGACCATCATCCAG
ACTACACAGGGATTTTGCAGATACCTGGAAAAACAATTCAGTGACTTAAAGCAGAAAGGC
ATCGTGATCAGTTTTGACGCCCGAGCTCATCCATCCAGTGGGGGTAGCAGCAGAAGGTTT
GCCCGACTTGCTGCAACCACATTTATCAGTCAGGGGATTCCTGTGTACCTCTTTTCTGAT
ATAACGCCAACCCCCTTTGTGCCCTTCACAGTATCACATTTGAAACTTTGTGCTGGAATC
ATGATAACTGCATCTCACAATCCAAAGCAGGATAATGGTTATAAGGTCTATTGGGATAAT
GGAGCTCAGATCATTTCTCCTCACGATAAAGGGATTTCTCAAGCTATTGAAGAAAATCTA
GAACCGTGGCCTCAAGCTTGGGACGATTCTTTAATTGATAGCAGTCCACTTCTCCACAAT
CCGAGTGCTTCCATCAATAATGACTACTTTGAAGACCTTAAAAAGTACTGTTTCCACAGG
AGCGTGAACAGGGAGACAAAGGTGAAGTTTGTGCACACCTCTGTCCATGGGGTGGGTCAT
AGCTTTGTGCAGTCAGCTTTCAAGGCTTTTGACCTTGTTCCTCCTGAGGCTGTTCCTGAA
CAGAAAGATCCGGATCCTGAGTTTCCAACAGTGAAATACCCGAATCCCGAAGAGGGGAAA
GGTGTCTTGACTTTGTCTTTTGCTTTGGCTGACAAAACCAAGGCCAGAATTGTTTTAGCT
AACGACCCGGATGCTGATAGACTTGCTGTGGCAGAAAAGCAAGACAGTGGTGAATGGAGG
GTGTTTTCAGGCAATGAGTTGGGGGCCCTCCTGGGCTGGTGGCTTTTTACATCTTGGAAA
GAGAAGAACCAGGATCGCAGTGCTCTCAAAGACACGTACATGTTGTCCAGCACCGTCTCC
TCCAAAATCTTGCGGGCCATTGCCTTAAAGGAAGGTTTTCATTTTGAGGAAACATTAACT
GGCTTTAAGTGGATGGGAAACAGAGCCAAACAGCTAATAGACCAGGGGAAAACTGTTTTA
TTTGCATTTGAAGAAGCTATTGGATACATGTGCTGCCCTTTTGTTCTGGACAAAGATGGA
GTCAGTGCCGCTGTCATAAGTGCAGAGTTGGCTAGCTTCCTAGCAACCAAGAATTTGTCT
TTGTCTCAGCAACTAAAGGCCATTTATGTGGAGTATGGCTACCATATTACTAAAGCTTCC
TATTTTATCTGCCATGATCAAGAAACCATTAAGAAATTATTTGAAAACCTCAGAAACTAC
GATGGAAAAAATAATTATCCAAAAGCTTGTGGCAAATTTGAAATTTCTGCCATTAGGGAC
CTTACAACTGGCTATGATGATAGCCAACCTGATAAAAAAGCTGTTCTTCCCACTAGTAAA
AGCAGCCAAATGATCACCTTCACCTTTGCTAATGGAGGCGTGGCCACCATGCGCACCAGT
GGGACAGAGCCCAAAATCAAGTACTATGCAGAGCTGTGTGCCCCACCTGGGAACAGTGAT
CCTGAGCAGCTGAAGAAGGAACTGAATGAACTGGTCAGTGCTATTGAAGAACATTTTTTC
CAGCCACAGAAGTACAATCTGCAGCCAAAAGCAGACTAA

1. Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A: Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Genome Res. 2001 Mar;11(3):422-35. [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. Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Nat Biotechnol. 2003 May;21(5):566-9. Epub 2003 Mar 31. [PubMed ]
5. Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen E: Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family. J Biol Chem. 2007 Nov 2;282(44):31844-51. Epub 2007 Sep 5. [PubMed ]
6. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed ]
7. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. [PubMed ]
8. 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 ]

1. PMMLP
2. Phosphoglucomutase-2-like 1

MAENTEGDLNSNLLHAPYHTGDPQLDTAIGQWLRWDKNPKTKEQIENLLRNGMNKELRDR
LCCRMTFGTAGLRSAMGAGFCYINDLTVIQSTQGMYKYLERCFSDFKQRGFVVGYDTRGQ
VTSSCSSQRLAKLTAAVLLAKDVPVYLFSRYVPTPFVPYAVQKLKAVAGVMITASHNRKE
DNGYKVYWETGAQITSPHDKEILKCIEECVEPWNGSWNDNLVDTSPLKRDPLQDICRRYM
EDLKKICFYRELNSKTTLKFVHTSFHGVGHDYVQLAFKVFGFKPPIPVPEQKDPDPDFST
VKCPNPEEGESVLELSLRLAEKENARVVLATDPDADRLAAAELQENGCWKVFTGNELAAL
FGWWMFDCWKKNKSRNADVKNVYMLATTVSSKILKAIALKEGFHFEETLPGFKWIGSRII
DLLENGKEVLFAFEESIGFLCGTSVLDKDGVSAAVVVAEMASYLETMNITLKQQLVKVYE
KYGYHISKTSYFLCYEPPTIKSIFERLRNFDSPKEYPKFCGTFAILHVRDITTGYDSSQP
NKKSVLPVSKNSQMITFTFQNGCVATLRTSGTEPKIKYYAEMCASPDQSDTALLEEELKK
LIDALIENFLQPSKNGLIWRSV

• 3-phospho-D-glyceroyl phosphate + alpha-D-glucose 1-phosphate = 3-phospho-D-glycerate + alpha-D-glucose 1,6-bisphosphate [RN:R01660]

• PGM_PMM_I (PF02878 )
• PGM_PMM_II (PF02879 )
• PGM_PMM_III (PF02880 )
• PGM_PMM_IV (PF00408 )

• None

• None

ATGGCTGAAAACACAGAGGGGGATCTGAACTCCAACCTGCTCCACGCCCCCTACCACACC
GGGGACCCTCAGCTGGACACGGCCATCGGGCAGTGGCTCCGCTGGGATAAGAATCCCAAA
ACAAAAGAGCAGATTGAAAACCTGTTACGGAATGGGATGAACAAGGAGCTGCGAGATCGT
CTTTGTTGCCGAATGACTTTTGGGACTGCAGGACTTCGTTCTGCCATGGGGGCAGGGTTT
TGCTATATTAATGACCTTACAGTAATACAGTCAACACAGGGGATGTACAAATACCTTGAG
AGATGTTTCTCAGACTTCAAGCAGAGAGGCTTTGTGGTTGGGTATGACACTCGGGGTCAA
GTAACTAGCAGCTGCAGCAGCCAGAGGCTTGCTAAACTCACTGCTGCAGTCTTGCTGGCC
AAAGATGTTCCTGTGTACCTTTTTTCAAGATATGTTCCTACACCTTTTGTACCATATGCA
GTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCTCACAACCGCAAGGAA
GACAATGGATACAAGGTTTACTGGGAAACTGGTGCTCAGATCACATCTCCTCATGATAAA
GAAATTCTAAAATGTATAGAAGAATGTGTGGAACCCTGGAATGGTTCCTGGAATGATAAT
TTAGTGGATACCAGCCCGCTGAAGAGAGACCCTCTGCAGGACATTTGCAGGAGATACATG
GAAGATCTGAAAAAGATCTGTTTTTACAGGGAGTTAAACTCGAAGACCACCTTGAAATTT
GTGCACACATCTTTTCATGGGGTCGGACATGACTATGTGCAGTTGGCTTTTAAAGTGTTT
GGTTTTAAGCCTCCAATTCCAGTACCAGAACAAAAAGATCCTGATCCAGACTTTTCTACC
GTTAAATGTCCAAATCCTGAAGAAGGAGAATCTGTGCTGGAACTTTCCTTGAGACTGGCA
GAGAAAGAAAATGCCCGGGTAGTGCTAGCCACAGATCCTGATGCAGACAGACTGGCAGCA
GCAGAACTTCAGGAGAATGGTTGTTGGAAAGTTTTCACAGGGAATGAGTTGGCAGCTTTG
TTTGGATGGTGGATGTTTGATTGCTGGAAGAAAAATAAATCAAGAAATGCTGATGTGAAG
AACGTTTATATGTTAGCCACCACAGTCTCTTCTAAAATTCTGAAGGCAATTGCACTTAAA
GAAGGATTTCATTTTGAAGAAACATTACCAGGTTTTAAATGGATTGGAAGTAGGATAATA
GACCTCCTGGAAAATGGGAAAGAAGTCCTTTTTGCATTTGAAGAGTCTATTGGTTTTCTC
TGTGGAACTTCAGTTTTGGATAAAGATGGGGTGAGTGCAGCTGTTGTGGTTGCTGAGATG
GCATCTTACCTGGAAACCATGAATATAACATTGAAACAGCAACTGGTTAAGGTTTATGAA
AAATATGGTTATCATATTTCAAAAACTTCCTATTTCTTGTGTTATGAACCACCTACCATC
AAAAGTATATTTGAAAGGCTTCGTAATTTTGATTCTCCAAAAGAATATCCAAAATTTTGT
GGAACATTTGCTATATTGCATGTACGGGACGTTACCACTGGATATGACAGTAGCCAGCCT
AATAAGAAATCAGTGCTGCCTGTGAGTAAAAACAGCCAAATGATTACATTTACTTTTCAA
AATGGCTGTGTTGCTACCCTTCGGACAAGTGGAACAGAACCAAAGATAAAGTATTATGCA
GAGATGTGTGCGTCACCTGACCAGAGTGACACTGCTTTACTGGAGGAAGAACTGAAGAAA
CTCATTGATGCTCTGATAGAGAATTTTCTTCAGCCTAGTAAGAATGGACTGATCTGGCGT
TCTGTTTAG

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. 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. Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. [PubMed ]
4. Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen E: Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family. J Biol Chem. 2007 Nov 2;282(44):31844-51. Epub 2007 Sep 5. [PubMed ]
5. Imami K, Sugiyama N, Kyono Y, Tomita M, Ishihama Y: Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column. Anal Sci. 2008 Jan;24(1):161-6. [PubMed ]
6. Veiga-da-Cunha M, Vleugels W, Maliekal P, Matthijs G, Van Schaftingen E: Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase. J Biol Chem. 2008 Dec 5;283(49):33988-93. Epub 2008 Oct 16. [PubMed ]
7. Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. J Proteome Res. 2008 Mar;7(3):1346-51. Epub 2008 Jan 26. [PubMed ]
8. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. Epub 2008 Jul 31. [PubMed ]
9. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. [PubMed ]

1. SubName: cDNA FLJ75943, highly similar to Homo sapiens phosphomannomutase 1 (PMM1), mRNA
2. SubName: cDNA, FLJ94591, highly similar to Homo sapiens phosphomannomutase 1 (PMM1), mRNA

MAVTAQAARRKERVLCLFDVDGTLTPARQKIDPEVAAFLQKLRSRVQIGVVGGSDYCKIA
EQLGDGDEVIEKFDYVFAENGTVQYKHGRLLSKQTIQNHLGEELLQDLINFCLSYMALLR
LPKKRGTFIEFRNGMLNISPIGRSCTLEERIEFSELDKKEKIREKFVEALKTEFAGKGLR
FSRGGMISFDVFPEGWDKRYCLDSLDQDSFDTIHFFGNETSPGGNDFEIFADPRTVGHSV
VSPQDTVQRCREIFFPETAHEA

• PMM (PF03332 )

• None

• None

ATGGCAGTCACCGCCCAGGCAGCCCGCAGGAAGGAGCGCGTCCTCTGCCTGTTTGACGTG
GACGGGACCCTCACGCCGGCTCGCCAGAAAATTGACCCTGAGGTGGCCGCCTTCCTGCAG
AAGCTACGAAGTAGAGTGCAGATCGGTGTGGTGGGCGGCTCTGACTACTGTAAGATCGCT
GAGCAGCTGGGTGACGGGGATGAAGTCATTGAGAAGTTTGATTATGTGTTTGCCGAGAAC
GGGACGGTGCAGTATAAGCACGGACGACTGCTCTCCAAGCAGACCATCCAGAACCACCTG
GGGGAGGAGCTGCTGCAGGACTTGATCAACTTCTGCCTCAGCTACATGGCCCTGCTCAGG
CTGCCCAAGAAGCGTGGAACCTTCATCGAGTTCCGGAATGGCATGCTGAACATCTCGCCC
ATCGGCCGGAGCTGCACCCTGGAGGAGAGGATCGAGTTCTCCGAACTGGACAAGAAAGAG
AAGATCCGGGAGAAGTTCGTGGAAGCCCTGAAAACAGAGTTTGCTGGCAAAGGGCTGAGG
TTCTCTCGAGGAGGCATGATCAGCTTTGACGTCTTCCCCGAGGGCTGGGACAAGCGCTAC
TGCCTGGATAGCCTGGACCAGGACAGCTTCGACACCATCCACTTCTTTGGGAACGAGACT
AGCCCTGGTGGGAACGACTTTGAGATCTTTGCCGACCCCCGGACTGTTGGCCACAGCGTG
GTGTCTCCTCAGGACACGGTGCAGCGATGCCGGGAGATTTTCTTCCCAGAGACAGCTCAT
GAGGCGTGA

MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDV
VEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFI
EFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF
DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYSVTAPEDTRRI
CELLFS

• None

• None