PMM1

{{Short description|Protein-coding gene in the species Homo sapiens}}

Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene.{{cite journal | vauthors = Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ | title = PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13 | journal = Genomics | volume = 40 | issue = 1 | pages = 41–7 |date=Jun 1997 | pmid = 9070917 | doi = 10.1006/geno.1996.4536 | doi-access = free }}{{cite journal | vauthors = Pirard M, Collet JF, Matthijs G, Van Schaftingen E | title = Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells | journal = FEBS Lett | volume = 411 | issue = 2–3 | pages = 251–4 |date=Sep 1997 | pmid = 9271215 | doi =10.1016/S0014-5793(97)00704-7 | doi-access = free }}{{cite web | title = Entrez Gene: PMM1 phosphomannomutase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5372}}

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.

This enzyme has been extracted from the venom of the wasp species Polistes major major.{{cite journal|doi=10.1002/psc.860 | pmid=17559065 | volume=13 | issue=7 | title=Identification of three novel peptides isolated from the venom of the neotropical social wasp Polistes major major | year=2007 | journal=Journal of Peptide Science | pages=445–450 | vauthors=ČeŘovský V| s2cid=41958134 }}

References

{{cite journal | vauthors=Wada Y, Sakamoto M |title=Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13. |journal=Genomics |volume=39 |issue= 3 |pages= 416–7 |year= 1997 |pmid= 9119384 |doi= 10.1006/geno.1996.4487 }}
{{cite journal | vauthors=Hansen SH, Frank SR, Casanova JE |title=Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53. |journal=Glycobiology |volume=7 |issue= 6 |pages= 829–34 |year= 1997 |pmid= 9376685 |doi=10.1093/glycob/7.6.829 |doi-access=free }}
{{cite journal |vauthors=Collet JF, Stroobant V, Pirard M, etal |title=A new class of phosphotransferases phosphorylated on an aspartate residue in an amino-terminal DXDX(T/V) motif. |journal=J. Biol. Chem. |volume=273 |issue= 23 |pages= 14107–12 |year= 1998 |pmid= 9603909 |doi=10.1074/jbc.273.23.14107 |doi-access=free }}
{{cite journal |vauthors=Pirard M, Achouri Y, Collet JF, etal |title=Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes. |journal=Biochem. J. |volume=339 |issue= 1|pages= 201–7 |year= 1999 |pmid= 10085245 |doi=10.1042/0264-6021:3390201 | pmc=1220145 }}
{{cite journal |vauthors=Dunham I, Shimizu N, Roe BA, etal |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489–95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031 |bibcode=1999Natur.402..489D |doi-access= free }}
{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
{{cite journal | vauthors=Jensen H, Kjaergaard S, Klie F, Moller HU |title=Ophthalmic manifestations of congenital disorder of glycosylation type 1a. |journal=Ophthalmic Genet. |volume=24 |issue= 2 |pages= 81–8 |year= 2003 |pmid= 12789572 |doi=10.1076/opge.24.2.81.13994 |s2cid=29341185 }}
{{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
{{cite journal |vauthors=Collins JE, Wright CL, Edwards CA, etal |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84 | pmc=545604 |doi-access=free }}
{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
{{cite journal |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |bibcode=2005Natur.437.1173R |s2cid=4427026 }}
{{cite journal |vauthors=Silvaggi NR, Zhang C, Lu Z, etal |title=The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. |journal=J. Biol. Chem. |volume=281 |issue= 21 |pages= 14918–26 |year= 2006 |pmid= 16540464 |doi= 10.1074/jbc.M601505200 |doi-access= free}}
{{cite journal |vauthors=Baumbusch LO, Myhre S, Langerød A, etal |title=Expression of full-length p53 and its isoform Deltap53 in breast carcinomas in relation to mutation status and clinical parameters. |journal=Mol. Cancer |volume=5 |pages= 47 |year= 2006 |pmid= 17054774 |doi= 10.1186/1476-4598-5-47 | pmc=1636663 |doi-access=free }}
{{cite journal |vauthors=Barone R, Sturiale L, Fiumara A, etal |title=Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). |journal=J. Inherit. Metab. Dis. |volume=30 |issue= 1 |pages= 107 |year= 2007 |pmid= 17186415 |doi= 10.1007/s10545-006-0486-6 |s2cid=12016939 }}

PMM1

References

Further reading