PIGP

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PIGP
Identifiers
Aliases PIGP, DCRC, DCRC-S, DSCR5, DSRC, PIG-P, phosphatidylinositol glycan anchor biosynthesis class P
External IDs MGI: 1860433 HomoloGene: 32444 GeneCards: PIGP
RNA expression pattern
PBB GE PIGP 221689 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 Mb Chr 16: 94.36 – 94.37 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Subunit P of phosphatidylinositol N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the PIGP gene.[3][4][5]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: PIGP phosphatidylinositol glycan anchor biosynthesis, class P". 

Further reading[edit]