PMM1

Protein-coding gene in the species Homo sapiens
PMM1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2FUC, 2FUE

Identifiers
AliasesPMM1, Sec53, phosphomannomutase 1, PMMH-22, PMM 1
External IDsOMIM: 601786; MGI: 1353418; HomoloGene: 90898; GeneCards: PMM1; OMA:PMM1 - orthologs
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for PMM1
Genomic location for PMM1
Band22q13.2Start41,576,900 bp[1]
End41,589,871 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for PMM1
Genomic location for PMM1
Band15|15 E1Start81,835,309 bp[2]
End81,845,131 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of transverse colon

  • body of stomach

  • right lobe of liver

  • nucleus accumbens

  • right frontal lobe

  • right adrenal gland

  • right lung

  • left adrenal gland

  • right adrenal cortex

  • cingulate gyrus
Top expressed in
  • morula

  • morula

  • neural layer of retina

  • dentate gyrus of hippocampal formation granule cell

  • superior frontal gyrus

  • cerebellar cortex

  • primary visual cortex

  • lateral hypothalamus

  • lateral geniculate nucleus

  • hippocampus proper
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • phosphomannomutase activity
  • isomerase activity
  • protein binding
  • metal ion binding
Cellular component
  • cytoplasm
  • neuronal cell body
  • cytosol
Biological process
  • mannose metabolic process
  • protein N-linked glycosylation
  • protein targeting to ER
  • GDP-mannose biosynthetic process
  • cellular response to leukemia inhibitory factor
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

5372

29858

Ensembl

ENSG00000100417

ENSMUSG00000022474

UniProt

Q92871

O35621

RefSeq (mRNA)

NM_002676

NM_001282040
NM_001282041
NM_013872

RefSeq (protein)

NP_002667

NP_001268969
NP_001268970
NP_038900

Location (UCSC)Chr 22: 41.58 – 41.59 MbChr 15: 81.84 – 81.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene.[5][6][7]

Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of Glycosylphosphatidylinositol (GPI) anchored proteins.[7]

This enzyme has been extracted from the venom of the wasp species Polistes major major.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100417 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022474 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ (Jun 1997). "PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13". Genomics. 40 (1): 41–7. doi:10.1006/geno.1996.4536. PMID 9070917.
  6. ^ Pirard M, Collet JF, Matthijs G, Van Schaftingen E (Sep 1997). "Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells". FEBS Lett. 411 (2–3): 251–4. doi:10.1016/S0014-5793(97)00704-7. PMID 9271215.
  7. ^ a b "Entrez Gene: PMM1 phosphomannomutase 1".
  8. ^ ČeŘovský V (2007). "Identification of three novel peptides isolated from the venom of the neotropical social wasp Polistes major major". Journal of Peptide Science. 13 (7): 445–450. doi:10.1002/psc.860. PMID 17559065. S2CID 41958134.

Further reading

  • Wada Y, Sakamoto M (1997). "Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13". Genomics. 39 (3): 416–7. doi:10.1006/geno.1996.4487. PMID 9119384.
  • Hansen SH, Frank SR, Casanova JE (1997). "Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53". Glycobiology. 7 (6): 829–34. doi:10.1093/glycob/7.6.829. PMID 9376685.
  • Collet JF, Stroobant V, Pirard M, et al. (1998). "A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif". J. Biol. Chem. 273 (23): 14107–12. doi:10.1074/jbc.273.23.14107. PMID 9603909.
  • Pirard M, Achouri Y, Collet JF, et al. (1999). "Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes". Biochem. J. 339 (1): 201–7. doi:10.1042/0264-6021:3390201. PMC 1220145. PMID 10085245.
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Jensen H, Kjaergaard S, Klie F, Moller HU (2003). "Ophthalmic manifestations of congenital disorder of glycosylation type 1a". Ophthalmic Genet. 24 (2): 81–8. doi:10.1076/opge.24.2.81.13994. PMID 12789572. S2CID 29341185.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  • Silvaggi NR, Zhang C, Lu Z, et al. (2006). "The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a". J. Biol. Chem. 281 (21): 14918–26. doi:10.1074/jbc.M601505200. PMID 16540464.
  • Baumbusch LO, Myhre S, Langerød A, et al. (2006). "Expression of full-length p53 and its isoform Deltap53 in breast carcinomas in relation to mutation status and clinical parameters". Mol. Cancer. 5: 47. doi:10.1186/1476-4598-5-47. PMC 1636663. PMID 17054774.
  • Barone R, Sturiale L, Fiumara A, et al. (2007). "Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)". J. Inherit. Metab. Dis. 30 (1): 107. doi:10.1007/s10545-006-0486-6. PMID 17186415. S2CID 12016939.
  • v
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  • 2fuc: Human alpha-Phosphomannomutase 1 with Mg2+ cofactor bound
    2fuc: Human alpha-Phosphomannomutase 1 with Mg2+ cofactor bound
  • 2fue: Human alpha-Phosphomannomutase 1 with D-mannose 1-phosphate and Mg2+ cofactor bound
    2fue: Human alpha-Phosphomannomutase 1 with D-mannose 1-phosphate and Mg2+ cofactor bound
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