Gene/Proteome Database (LMPD)

LMPD ID
LMP001689
Gene ID
5277
Species
Homo sapiens (Human)
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class A
Gene Symbol
PIGA
Synonyms
GPI3; MCAHS2; PIG-A; PNH1
Alternate Names
phosphatidylinositol N-acetylglucosaminyltransferase subunit A; GPI anchor biosynthesis; GLCNAC-PI synthesis protein; class A GlcNAc-inositol phospholipid assembly protein; phosphatidylinositol-glycan biosynthesis, class A protein
Chromosome
X
Map Location
Xp22.1
EC Number
2.4.1.198
Summary
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 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]
Orthologs
View 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
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEISETR
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
MELTGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEISETR

Gene Information

Entrez Gene ID
5277
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class A
Gene Symbol
PIGA
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 IDA:HGNC C endoplasmic reticulum membrane
GO:0000506 IDA:HGNC C glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0016020 IDA:UniProtKB C membrane
GO:0008194 TAS:Reactome F UDP-glycosyltransferase activity
GO:0017176 TAS:HGNC F phosphatidylinositol N-acetylglucosaminyltransferase activity
GO:0006501 TAS:Reactome P C-terminal protein lipidation
GO:0006506 TAS:HGNC P GPI anchor biosynthetic process
GO:0044267 TAS:Reactome P cellular protein metabolic process
GO:0009893 TAS:HGNC P positive regulation of metabolic process
GO:0043687 TAS:Reactome P post-translational protein modification
GO:0016254 TAS:Reactome P preassembly of GPI anchor in ER membrane

KEGG Pathway Links

KEGG Pathway ID Description
hsa00563 Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
hsa01100 Metabolic pathways

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_952 Synthesis of glycosylphosphatidylinositol (GPI)

Domain Information

InterPro Annotations

Accession Description
IPR001296 Glycosyl transferase, family 1
IPR013234 PIGA, GPI anchor biosynthesis

UniProt Annotations

Entry Information

Gene Name
phosphatidylinositol glycan anchor biosynthesis, class A
Protein Entry
PIGA_HUMAN
UniProt ID
P37287
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P37287-1; Sequence=Displayed; Name=2; IsoId=P37287-2; Sequence=VSP_001802; Name=3; IsoId=P37287-3; Sequence=VSP_043366, VSP_043367; Note=No experimental confirmation available.;
Catalytic Activity UDP-N-acetyl-D-glucosamine + 1-phosphatidyl- 1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol.
Disease Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM
Disease Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM
Function Necessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.
Pathway Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
Similarity Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
Subcellular Location Endoplasmic reticulum membrane; Single-pass membrane protein.
Subunit Associates with PIGC, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity. Interacts directly with PIGY.
Web Resource Name=Functional Glycomics Gateway - GTase; Note=Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_555";

Identical and Related Proteins

Unique RefSeq proteins for LMP001689 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
11863130 RefSeq NP_002632 484 phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1
299782546 RefSeq NP_065206 250 phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 3

Identical Sequences to LMP001689 proteins

Reference Database Accession Length Protein Name
GI:11863130 DBBJ BAA05966.1 484 PIG-A protein [Homo sapiens]
GI:299782546 DBBJ BAG64564.1 250 unnamed protein product [Homo sapiens]
GI:11863130 GenBank AAH38236.1 484 Phosphatidylinositol glycan anchor biosynthesis, class A [Homo sapiens]
GI:11863130 GenBank EAW98879.1 484 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria), isoform CRA_a [Homo sapiens]
GI:11863130 GenBank ADZ15406.1 484 phosphatidylinositol glycan anchor biosynthesis, class A, partial [synthetic construct]
GI:11863130 GenBank AHD78601.1 484 Sequence 26599 from patent US 8586006
GI:11863130 GenBank AIC49391.1 484 PIGA, partial [synthetic construct]
GI:299782546 RefSeq XP_008972381.1 250 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform X2 [Pan paniscus]

Related Sequences to LMP001689 proteins

Reference Database Accession Length Protein Name
GI:299782546 DBBJ BAA02019.1 484 PIG-A protein [Homo sapiens]
GI:299782546 DBBJ BAA05966.1 484 PIG-A protein [Homo sapiens]
GI:11863130 DBBJ BAG37537.1 484 unnamed protein product [Homo sapiens]
GI:299782546 GenBank EAW98879.1 484 phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria), isoform CRA_a [Homo sapiens]
GI:11863130 GenBank JAA10054.1 484 phosphatidylinositol glycan anchor biosynthesis, class A [Pan troglodytes]
GI:11863130 GenBank JAA15950.1 484 phosphatidylinositol glycan anchor biosynthesis, class A [Pan troglodytes]
GI:11863130 GenBank JAA26182.1 484 phosphatidylinositol glycan anchor biosynthesis, class A [Pan troglodytes]
GI:11863130 RefSeq XP_520945.2 484 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit A [Pan troglodytes]
GI:299782546 RefSeq XP_003261126.1 250 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 4 [Nomascus leucogenys]
GI:11863130 RefSeq XP_003805760.1 484 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform X1 [Pan paniscus]
GI:299782546 RefSeq XP_004063888.1 250 PREDICTED: phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 3 [Gorilla gorilla gorilla]
GI:299782546 SwissProt P37287.1 484 RecName: Full=Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; AltName: Full=GlcNAc-PI synthesis protein; AltName: Full=Phosphatidylinositol-glycan biosynthesis class A protein; Short=PIG-A [Homo sapiens]