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Identification
HMDB Protein ID HMDBP00797
Secondary Accession Numbers
  • 6077
Name Mannose-6-phosphate isomerase
Synonyms
  1. PMI
  2. Phosphohexomutase
  3. Phosphomannose isomerase
Gene Name MPI
Protein Type Unknown
Biological Properties
General Function Involved in mannose-6-phosphate isomerase activity
Specific Function Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
Pathways
  • Amino sugar and nucleotide sugar metabolism
  • Fructose and Mannose Degradation
  • Fructose and mannose metabolism
  • Fructose intolerance, hereditary
  • Fructosuria
  • GDP-alpha-D-mannose biosynthesis
Reactions
Mannose 6-phosphate → Fructose 6-phosphate details
Mannose 6-phosphate → Beta-D-Fructose 6-phosphate details
GO Classification
Biological Process
dolichol-linked oligosaccharide biosynthetic process
post-translational protein modification
protein N-linked glycosylation via asparagine
GDP-mannose biosynthetic process
Cellular Component
cytosol
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
zinc ion binding
mannose-6-phosphate isomerase activity
isomerase activity
intramolecular oxidoreductase activity
intramolecular oxidoreductase activity, interconverting aldoses and ketoses
Molecular Function
mannose-6-phosphate isomerase activity
metal ion binding
zinc ion binding
Process
metabolic process
primary metabolic process
carbohydrate metabolic process
Cellular Location
  1. Cytoplasm (Probable)
Gene Properties
Chromosome Location 15
Locus 15q22-qter
SNPs MPI
Gene Sequence
>1272 bp
ATGGCCGCTCCGCGAGTATTCCCACTTTCCTGTGCGGTGCAGCAGTATGCCTGGGGGAAG
ATGGGTTCCAACAGCGAAGTGGCGCGGCTGTTGGCCAGCAGTGATCCACTGGCCCAGATC
GCAGAGGACAAGCCTTATGCAGAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAG
ATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGAC
AGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTG
CTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACAAGGAGCTGGCAGAGAAG
CTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGATGGCCATT
GCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTT
CTAAAGAAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCAGCAACACACCTGAAG
CAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCAC
CTGATGAAGAGTGAGAAGAAGGTGGTGGTGGAACAGCTCAACCTGTTGGTGAAGCGGATC
TCCCAGCAAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAG
CTGCACCAGCAGTACCCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTT
ACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAA
GGAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCC
AAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACCCCTAGCTCCAGCAAG
GACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCC
CCTGTACCAGACTTCACCATTATGAAGACGGAGGTCCCTGGCTCTGTCACTGAATACAAG
GTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGC
ACACCCACAACCCAGACACCAATCCCTCTGCAACGTGGTGGCGTGCTCTTCATTGGGGCC
AATGAGAGTGTCTCACTGAAGCTTACTGAGCCGAAGGACCTGCTGATATTCCGTGCCTGC
TGTCTGCTGTAA
Protein Properties
Number of Residues 423
Molecular Weight 46655.44
Theoretical pI 5.949
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Mannose-6-phosphate isomerase
MAAPRVFPLSCAVQQYAWGKMGSNSEVARLLASSDPLAQIAEDKPYAELWMGTHPRGDAK
ILDNRISQKTLSQWIAENQDSLGSKVKDTFNGNLPFLFKVLSVETPLSIQAHPNKELAEK
LHLQAPQHYPDANHKPEMAIALTPFQGLCGFRPVEEIVTFLKKVPEFQFLIGDEAATHLK
QTMSHDSQAVASSLQSCFSHLMKSEKKVVVEQLNLLVKRISQQAAAGNNMEDIFGELLLQ
LHQQYPGDIGCFAIYFLNLLTLKPGEAMFLEANVPHAYLKGDCVECMACSDNTVRAGLTP
KFIDVPTLCEMLSYTPSSSKDRLFLPTRSQEDPYLSIYDPPVPDFTIMKTEVPGSVTEYK
VLALDSASILLMVQGTVIASTPTTQTPIPLQRGGVLFIGANESVSLKLTEPKDLLIFRAC
CLL
GenBank ID Protein 416017
UniProtKB/Swiss-Prot ID P34949
UniProtKB/Swiss-Prot Entry Name MPI_HUMAN
PDB IDs Not Available
GenBank Gene ID X76057
GeneCard ID MPI
GenAtlas ID MPI
HGNC ID HGNC:7216
References
General References
  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 ]
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  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 ]