InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIGA

Summary

InnateDB Protein

IDBP-598640.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PIGA

Protein Name

phosphatidylinositol glycan anchor biosynthesis, class A

Synonyms

GPI3; MCAHS2; PIG-A; PNH1;

Species

Homo sapiens

Ensembl Protein

ENSP00000442653

InnateDB Gene

IDBG-46055 (PIGA)

Protein Structure

UniProt Annotation

Function

Necessary for the synthesis of N-acetylglucosaminyl- phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.

Subcellular Localization

Endoplasmic reticulum membrane; Single-pass membrane protein.

Disease Associations

Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]: A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. {ECO:0000269PubMed:10087994, ECO:0000269PubMed:12037021, ECO:0000269PubMed:8167330, ECO:0000269PubMed:8306954, ECO:0000269PubMed:8500164}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]: An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy. {ECO:0000269PubMed:22305531, ECO:0000269PubMed:24259184, ECO:0000269PubMed:24259288, ECO:0000269PubMed:24706016}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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