PIGP
{{Short description|Protein-coding gene in the species Homo sapiens}}
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Subunit P of phosphatidylinositol N-acetylglucosaminyltransferase is an enzyme subunit that in humans is encoded by the PIGP gene.{{cite journal | vauthors = Shibuya K, Kudoh J, Minoshima S, Kawasaki K, Asakawa S, Shimizu N | title = Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2 | journal = Biochem Biophys Res Commun | volume = 271 | issue = 3 | pages = 693–8 |date=Jun 2000 | pmid = 10814524 | doi = 10.1006/bbrc.2000.2685 }}{{cite journal | vauthors = Ferrando-Miguel R, Cheon MS, Lubec G | title = Protein levels of genes encoded on chromosome 21 in fetal Down Syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5) | journal = Amino Acids | volume = 26 | issue = 3 | pages = 255–61 |date=Jun 2004 | pmid = 15221505 | doi = 10.1007/s00726-004-0065-9 | s2cid = 42311306 }}{{cite web | title = Entrez Gene: PIGP phosphatidylinositol glycan anchor biosynthesis, class P| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51227}}
This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.
References
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Further reading
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- {{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=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=Choi DK, Suzuki Y, Yoshimura S, etal |title=Molecular cloning and characterization of a gene expressed in mouse developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down syndrome Critical Region gene 5) |journal=Mamm. Genome |volume=12 |issue= 5 |pages= 347–51 |year= 2001 |pmid= 11331941 |doi= 10.1007/s003350010283 |s2cid=41171148 }}
- {{cite journal |vauthors=Watanabe R, Murakami Y, Marmor MD, etal |title=Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2 |journal=EMBO J. |volume=19 |issue= 16 |pages= 4402–11 |year= 2000 |pmid= 10944123 |doi= 10.1093/emboj/19.16.4402 | pmc=302040 }}
- {{cite journal |vauthors=Togashi T, Choi DK, Taylor TD, etal |title=A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2 |journal=DNA Res. |volume=7 |issue= 3 |pages= 207–12 |year= 2001 |pmid= 10907851 |doi=10.1093/dnares/7.3.207 |doi-access=free }}
- {{cite journal |vauthors=Hattori M, Fujiyama A, Taylor TD, etal |title=The DNA sequence of human chromosome 21 |journal=Nature |volume=405 |issue= 6784 |pages= 311–9 |year= 2000 |pmid= 10830953 |doi= 10.1038/35012518 |bibcode=2000Natur.405..311H |doi-access= free }}
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