Protein-coding gene in the species Homo sapiens
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]
^ a b c GRCh38: Ensembl release 89: ENSG00000100417 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022474 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ 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 . ^ a b "Entrez Gene: PMM1 phosphomannomutase 1" .^ 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 . 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 .
