Homo sapiens Gene: PIGA
Summary
InnateDB Gene IDBG-46055.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PIGA
Gene Name phosphatidylinositol glycan anchor biosynthesis, class A
Synonyms GPI3; MCAHS2; PIG-A; PNH1;
Species Homo sapiens
Ensembl Gene ENSG00000165195
Encoded Proteins
phosphatidylinositol glycan anchor biosynthesis, class A
phosphatidylinositol glycan anchor biosynthesis, class A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:15319451-15335554
Strand Reverse strand
Band p22.2
Transcripts
ENST00000333590 ENSP00000369820
ENST00000482148
ENST00000475746
ENST00000463173
ENST00000474662
ENST00000542278 ENSP00000442653
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008194 UDP-glycosyltransferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity
Biological Process
GO:0006501 C-terminal protein lipidation
GO:0006506 GPI anchor biosynthetic process
GO:0009058 biosynthetic process
GO:0009893 positive regulation of metabolic process
GO:0016254 preassembly of GPI anchor in ER membrane
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
Cellular Component
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Post-translational modification: synthesis of GPI-anchored proteins pathway
Post-translational protein modification pathway
Synthesis of glycosylphosphatidylinositol (GPI) pathway
Metabolism of proteins pathway
KEGG
Glycosylphosphatidylinositol(GPI)-anchor biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.137154 Hs.607231 Hs.624563
RefSeq NM_002641 NM_020473
HUGO
OMIM
CCDS CCDS14165 CCDS48086
HPRD 02410
IMGT
EMBL
GenPept
RNA Seq Atlas