Showing Protein Mannose-6-phosphate isomerase (HMDBP00797)

• 6077

1. PMI
2. Phosphohexomutase
3. Phosphomannose isomerase

• Amino sugar and nucleotide sugar metabolism
• Fructose and mannose metabolism
• Fructose and mannose metabolism
• Fructose intolerance, hereditary
• Fructosuria
• GDP-alpha-D-mannose biosynthesis

1. Cytoplasm (Probable)

>1272 bp
ATGGCCGCTCCGCGAGTATTCCCACTTTCCTGTGCGGTGCAGCAGTATGCCTGGGGGAAG
ATGGGTTCCAACAGCGAAGTGGCGCGGCTGTTGGCCAGCAGTGATCCACTGGCCCAGATC
GCAGAGGACAAGCCTTATGCAGAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAG
ATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGAC
AGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTG
CTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACAAGGAGCTGGCAGAGAAG
CTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGATGGCCATT
GCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTT
CTAAAGAAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCAGCAACACACCTGAAG
CAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCAC
CTGATGAAGAGTGAGAAGAAGGTGGTGGTGGAACAGCTCAACCTGTTGGTGAAGCGGATC
TCCCAGCAAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAG
CTGCACCAGCAGTACCCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTT
ACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAA
GGAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCC
AAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACCCCTAGCTCCAGCAAG
GACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCC
CCTGTACCAGACTTCACCATTATGAAGACGGAGGTCCCTGGCTCTGTCACTGAATACAAG
GTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGC
ACACCCACAACCCAGACACCAATCCCTCTGCAACGTGGTGGCGTGCTCTTCATTGGGGCC
AATGAGAGTGTCTCACTGAAGCTTACTGAGCCGAAGGACCTGCTGATATTCCGTGCCTGC
TGTCTGCTGTAA

• PMI_typeI (PF01238 )

>Mannose-6-phosphate isomerase
MAAPRVFPLSCAVQQYAWGKMGSNSEVARLLASSDPLAQIAEDKPYAELWMGTHPRGDAK
ILDNRISQKTLSQWIAENQDSLGSKVKDTFNGNLPFLFKVLSVETPLSIQAHPNKELAEK
LHLQAPQHYPDANHKPEMAIALTPFQGLCGFRPVEEIVTFLKKVPEFQFLIGDEAATHLK
QTMSHDSQAVASSLQSCFSHLMKSEKKVVVEQLNLLVKRISQQAAAGNNMEDIFGELLLQ
LHQQYPGDIGCFAIYFLNLLTLKPGEAMFLEANVPHAYLKGDCVECMACSDNTVRAGLTP
KFIDVPTLCEMLSYTPSSSKDRLFLPTRSQEDPYLSIYDPPVPDFTIMKTEVPGSVTEYK
VLALDSASILLMVQGTVIASTPTTQTPIPLQRGGVLFIGANESVSLKLTEPKDLLIFRAC
CLL

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:14702039 ]
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:15489334 ]
3. 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. doi: 10.1021/ac9004309. [PubMed:19413330 ]
4. Proudfoot AE, Turcatti G, Wells TN, Payton MA, Smith DJ: Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase. Eur J Biochem. 1994 Jan 15;219(1-2):415-23. [PubMed:8307007 ]
5. Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G: Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). Hum Mutat. 2000 Sep;16(3):247-52. [PubMed:10980531 ]
6. Jaeken J, Matthijs G, Saudubray JM, Dionisi-Vici C, Bertini E, de Lonlay P, Henri H, Carchon H, Schollen E, Van Schaftingen E: Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet. 1998 Jun;62(6):1535-9. [PubMed:9585601 ]
7. Niehues R, Hasilik M, Alton G, Korner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T: Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest. 1998 Apr 1;101(7):1414-20. [PubMed:9525984 ]
8. de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V: A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet. 2001 Jan;38(1):14-9. [PubMed:11134235 ]
9. Westphal V, Kjaergaard S, Davis JA, Peterson SM, Skovby F, Freeze HH: Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. Mol Genet Metab. 2001 May;73(1):77-85. [PubMed:11350186 ]
10. 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:12357336 ]
11. Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray JM, Durand G, Seta N: Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. J Med Genet. 2002 Nov;39(11):849-51. [PubMed:12414827 ]