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Identification
HMDB Protein ID HMDBP01608
Secondary Accession Numbers
  • 6931
Name Phosphomannomutase 1
Synonyms
  1. PMM 1
  2. PMMH-22
Gene Name PMM1
Protein Type Enzyme
Biological Properties
General Function Involved in metal ion binding
Specific Function Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain.
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
D-Mannose 1-phosphate → Mannose 6-phosphate details
Mannose 6-phosphate → D-Mannose 1-phosphate details
GO Classification
Biological Process
dolichol-linked oligosaccharide biosynthetic process
post-translational protein modification
protein N-linked glycosylation via asparagine
mannose biosynthetic process
mannose metabolic process
GDP-mannose biosynthetic process
Cellular Component
cytosol
neuronal cell body
Component
cell part
intracellular part
cytoplasm
Function
catalytic activity
isomerase activity
phosphomannomutase activity
intramolecular transferase activity
intramolecular transferase activity, phosphotransferases
Molecular Function
metal ion binding
phosphomannomutase activity
Process
metabolic process
mannose metabolic process
small molecule metabolic process
alcohol metabolic process
monosaccharide metabolic process
hexose metabolic process
mannose biosynthetic process
Cellular Location
  1. Cytoplasm
Gene Properties
Chromosome Location 22
Locus 22q13.2
SNPs PMM1
Gene Sequence
>789 bp
ATGGCAGTCACCGCCCAGGCAGCCCGCAGGAAGGAGCGCGTCCTCTGCCTGTTTGACGTG
GACGGGACCCTCACGCCGGCTCGCCAGAAAATTGACCCTGAGGTGGCCGCCTTCCTGCAG
AAGCTACGAAGTAGAGTGCAGATCGGTGTGGTGGGCGGCTCTGACTACTGTAAGATCGCT
GAGCAGCTGGGTGACGGGGATGAAGTCATTGAGAAGTTTGATTATGTGTTTGCCGAGAAC
GGGACGGTGCAGTATAAGCACGGACGACTGCTCTCCAAGCAGACCATCCAGAACCACCTG
GGGGAGGAGCTGCTGCAGGACTTGATCAACTTCTGCCTCAGCTACATGGCCCTGCTCAGG
CTGCCCAAGAAGCGTGGAACCTTCATCGAGTTCCGGAATGGCATGCTGAACATCTCGCCC
ATCGGCCGGAGCTGCACCCTGGAGGAGAGGATCGAGTTCTCCGAACTGGACAAGAAAGAG
AAGATCCGGGAGAAGTTCGTGGAAGCCCTGAAAACAGAGTTTGCTGGCAAAGGGCTGAGG
TTCTCTCGAGGAGGCATGATCAGCTTTGACGTCTTCCCCGAGGGCTGGGACAAGCGCTAC
TGCCTGGATAGCCTGGACCAGGACAGCTTCGACACCATCCACTTCTTTGGGAACGAGACT
AGCCCTGGTGGGAACGACTTTGAGATCTTTGCCGACCCCCGGACTGTTGGCCACAGCGTG
GTGTCTCCTCAGGACACGGTGCAGCGATGCCGGGAGATTTTCTTCCCAGAGACAGCTCAT
GAGGCGTGA
Protein Properties
Number of Residues 262
Molecular Weight 29746.545
Theoretical pI 5.747
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Phosphomannomutase 1
MAVTAQAARRKERVLCLFDVDGTLTPARQKIDPEVAAFLQKLRSRVQIGVVGGSDYCKIA
EQLGDGDEVIEKFDYVFAENGTVQYKHGRLLSKQTIQNHLGEELLQDLINFCLSYMALLR
LPKKRGTFIEFRNGMLNISPIGRSCTLEERIEFSELDKKEKIREKFVEALKTEFAGKGLR
FSRGGMISFDVFPEGWDKRYCLDSLDQDSFDTIHFFGNETSPGGNDFEIFADPRTVGHSV
VSPQDTVQRCREIFFPETAHEA
GenBank ID Protein 5304855
UniProtKB/Swiss-Prot ID Q92871
UniProtKB/Swiss-Prot Entry Name PMM1_HUMAN
PDB IDs
GenBank Gene ID AL023553
GeneCard ID PMM1
GenAtlas ID Not Available
HGNC ID HGNC:9114
References
General References
  1. 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 ]
  2. 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:10591208 ]
  3. 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:15461802 ]
  4. 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:16540464 ]
  5. Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ: PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics. 1997 Feb 15;40(1):41-7. [PubMed:9070917 ]
  6. Wada Y, Sakamoto M: Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13. Genomics. 1997 Feb 1;39(3):416-7. [PubMed:9119384 ]