PIGP
Identifiers
AliasesPIGP, DCRC, DCRC-S, DSCR5, DSRC, PIG-P, phosphatidylinositol glycan anchor biosynthesis class P, EIEE55
External IDsOMIM: 605938 MGI: 1860433 HomoloGene: 32444 GeneCards: PIGP
Orthologs
SpeciesHumanMouse
Entrez

51227

56176

Ensembl

ENSG00000185808

ENSMUSG00000022940

UniProt

P57054

Q9JHG1

RefSeq (mRNA)

NM_153681
NM_153682
NM_001320480
NM_016430

RefSeq (protein)

NP_001307409
NP_057514
NP_710148
NP_710149

Location (UCSC)Chr 21: 37.06 – 37.07 MbChr 16: 94.16 – 94.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Subunit P of phosphatidylinositol N-acetylglucosaminyltransferase is an enzyme subunit that in humans is encoded by the PIGP gene.[5][6][7]

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.[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000185808 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022940 - 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. Shibuya K, Kudoh J, Minoshima S, Kawasaki K, Asakawa S, Shimizu N (Jun 2000). "Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2". Biochem Biophys Res Commun. 271 (3): 693–8. doi:10.1006/bbrc.2000.2685. PMID 10814524.
  6. Ferrando-Miguel R, Cheon MS, Lubec G (Jun 2004). "Protein levels of genes encoded on chromosome 21 in fetal Down Syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5)". Amino Acids. 26 (3): 255–61. doi:10.1007/s00726-004-0065-9. PMID 15221505. S2CID 42311306.
  7. 1 2 "Entrez Gene: PIGP phosphatidylinositol glycan anchor biosynthesis, class P".

Further reading


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