PIGA

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For the French/Italian wine grape, see Piga (grape).
Phosphatidylinositol glycan anchor biosynthesis, class A
Identifiers
Symbols PIGA ; GPI3; MCAHS2; PIG-A; PNH1
External IDs OMIM311770 MGI99461 HomoloGene1982 GeneCards: PIGA Gene
EC number 2.4.1.198
RNA expression pattern
PBB GE PIGA 205281 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5277 18700
Ensembl ENSG00000165195 ENSMUSG00000031381
UniProt P37287 Q64323
RefSeq (mRNA) NM_002641 NM_011081
RefSeq (protein) NP_002632 NP_035211
Location (UCSC) Chr X:
15.34 – 15.35 Mb
Chr X:
164.42 – 164.43 Mb
PubMed search [1] [2]

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A is an enzyme that in humans is encoded by the PIGA gene.[1][2]

This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized.[2]

Interactions[edit]

PIGA has been shown for interact with PIGQ.[3]

References[edit]

  1. ^ Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T (Jun 1993). "Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria". Cell 73 (4): 703–11. doi:10.1016/0092-8674(93)90250-T. PMID 8500164. 
  2. ^ a b "Entrez Gene: PIGA phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria)". 
  3. ^ Watanabe, R; Inoue N; Westfall B; Taron C H; Orlean P; Takeda J; Kinoshita T (Feb 1998). "The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1". EMBO J. (ENGLAND) 17 (4): 877–85. doi:10.1093/emboj/17.4.877. ISSN 0261-4189. PMC 1170437. PMID 9463366. 

Further reading[edit]