InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIGT

Summary

InnateDB Protein

IDBP-77638.6

Last Modified

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

Gene Symbol

PIGT

Protein Name

phosphatidylinositol glycan anchor biosynthesis, class T

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000279036

InnateDB Gene

IDBG-77636 (PIGT)

Protein Structure

UniProt Annotation

Function

Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates. {ECO:0000269PubMed:11483512}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:11483512}; Single-pass type I membrane protein {ECO:0000269PubMed:11483512}.

Disease Associations

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398]: An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes. {ECO:0000269PubMed:23636107}. Note=The disease is caused by mutations affecting the gene represented in this entry.Paroxysmal nocturnal hemoglobinuria 2 (PNH2) [MIM:615399]: 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:23733340}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.

Experimentally validated
Total	11 [view]
Protein-Protein	10 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003923	GPI-anchor transamidase activity
GO:0005515	protein binding

Biological Process

GO:0006501	C-terminal protein lipidation
GO:0016255	attachment of GPI anchor to protein
GO:0030182	neuron differentiation
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0051402	neuron apoptotic process

Cellular Component

GO:0005737	cytoplasm
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0030176	integral component of endoplasmic reticulum membrane
GO:0042765	GPI-anchor transamidase complex