LMPD Database

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LMP001689

Record overview

LMPD IDLMP001689
Gene ID5277
SpeciesHomo sapiens (Human)
Gene Namephosphatidylinositol glycan anchor biosynthesis, class A
Gene SymbolPIGA
SynonymsGPI3; MCAHS2; PIG-A; PNH1
Alternate namesphosphatidylinositol N-acetylglucosaminyltransferase subunit A; GPI anchor biosynthesis; GLCNAC-PI synthesis protein; class A GlcNAc-inositol phospholipid assembly protein; phosphatidylinositol-glycan biosynthesis, class A protein
ChromosomeX
Map LocationXp22.1
EC Number2.4.1.198
SummaryThis 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 which 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. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]
OrthologsView orthologs and multiple alignments for PIGA

Proteins

phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1
Refseq ID:NP_002632
Protein GI:11863130
UniProt ID:P37287
mRNA ID:NM_002641
Length:484
RefSeq Status:REVIEWED
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQ
STATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNP
EIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLV
QGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDR
VSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEISETR
 
phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 3
Refseq ID:NP_065206
Protein GI:299782546
UniProt ID:P37287
mRNA ID:NM_020473
Length:250
RefSeq Status:REVIEWED
MELTGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVG
GIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVF
NFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEISETR