- PMM1
Phosphomannomutase 1, also known as PMM1, is a human
gene .cite web | title = Entrez Gene: PMM1 phosphomannomutase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5372| accessdate = ]PBB_Summary
section_title =
summary_text = 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 glycosyl-phosphatidyl-inositol (GPI) anchored proteins.cite web | title = Entrez Gene: PMM1 phosphomannomutase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5372| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Matthijs G, Schollen E, Pirard M, "et al." |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 |year= 1997 |pmid= 9070917 |doi= 10.1006/geno.1996.4536
*cite journal | author=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 | author=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 |year= 1997 |pmid= 9271215 |doi=
*cite journal | author=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=
*cite journal | author=Collet JF, Stroobant V, Pirard M, "et al." |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=
*cite journal | author=Pirard M, Achouri Y, Collet JF, "et al." |title=Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes. |journal=Biochem. J. |volume=339 ( Pt 1) |issue= |pages= 201–7 |year= 1999 |pmid= 10085245 |doi=
*cite journal | author=Dunham I, Shimizu N, Roe BA, "et al." |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
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |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
*cite journal | author=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=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |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
*cite journal | author=Collins JE, Wright CL, Edwards CA, "et al." |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
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |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
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |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
*cite journal | author=Silvaggi NR, Zhang C, Lu Z, "et al." |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
*cite journal | author=Baumbusch LO, Myhre S, Langerød A, "et al." |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 |issue= |pages= 47 |year= 2006 |pmid= 17054774 |doi= 10.1186/1476-4598-5-47
*cite journal | author=Barone R, Sturiale L, Fiumara A, "et al." |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/s10545-006-0486-6PBB_Controls
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