PIGP

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Phosphatidylinositol glycan anchor biosynthesis, class P
Identifiers
Symbols PIGP ; DCRC; DCRC-S; DSCR5; DSRC
External IDs OMIM605938 MGI1860433 HomoloGene32444 GeneCards: PIGP Gene
EC number 2.4.1.198
RNA expression pattern
PBB GE PIGP 221689 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 51227 56176
Ensembl ENSG00000185808 ENSMUSG00000022940
UniProt P57054 Q9JHG1
RefSeq (mRNA) NM_153681 NM_001159616
RefSeq (protein) NP_710148 NP_001153088
Location (UCSC) Chr 21:
38.44 – 38.45 Mb
Chr 16:
94.36 – 94.37 Mb
PubMed search [1] [2]

Subunit P of phosphatidylinositol N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the PIGP gene.[1][2][3]

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.[3]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: PIGP phosphatidylinositol glycan anchor biosynthesis, class P". 

Further reading[edit]