PIGA

For other uses, see Piga.

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIG-A, or phosphatidylinositol glycan, class A) is the catalytic subunit of the phosphatidylinositol N-acetylglucosaminyltransferase enzyme, which in humans is encoded by the PIGA gene.^[5][6]

PIGA
Identifiers
Aliases	PIGA, GPI3, MCAHS2, PIG-A, PNH1, phosphatidylinositol glycan anchor biosynthesis class A, NEDEPH
External IDs	OMIM: 311770; MGI: 99461; HomoloGene: 1982; GeneCards: PIGA; OMA:PIGA - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.2 Start 15,319,452 bp[1] End 15,335,554 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F5|X 76.49 cM Start 163,202,783 bp[2] End 163,216,912 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte gastric mucosa mucosa of paranasal sinus islet of Langerhans upper lobe of left lung right lung Achilles tendon lower lobe of lung monocyte skin of abdomen Top expressed in corneal stroma conjunctival fornix secondary oocyte Paneth cell lumbar subsegment of spinal cord Ileal epithelium zygote migratory enteric neural crest cell primary oocyte cumulus cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity phosphatidylinositol N-acetylglucosaminyltransferase activity UDP-glycosyltransferase activity protein binding glycosyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex membrane endoplasmic reticulum Biological process GPI anchor biosynthetic process preassembly of GPI anchor in ER membrane positive regulation of metabolic process cellular response to leukemia inhibitory factor Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5277 18700 Ensembl ENSG00000165195 ENSMUSG00000031381 UniProt P37287 Q64323 RefSeq (mRNA) NM_002641 NM_020472 NM_020473 NM_011081 RefSeq (protein) NP_002632 NP_065206 NP_035211 Location (UCSC) Chr X: 15.32 – 15.34 Mb Chr X: 163.2 – 163.22 Mb PubMed search [3] [4]
Wikidata
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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 somatic mutations in this gene. Alternate splice variants have been characterized.^[6]

Multiple Congenital Anomalies-Hypotonia-Seizures syndrome type 2 (MCAHS2), also known as PIGA-CDG or PIGA deficiency, has been shown to result from germline mutations in the PIGA gene.^[7]

Interactions

PIGA has been shown for interact with PIGQ.^[8]