Version 5.4
Homo sapiens Protein: PIGT
Summary
InnateDB Protein IDBP-376377.5
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 ENSP00000407574
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
Biological Process
GO:0016255 attachment of GPI anchor to protein
Cellular Component
GO:0042765 GPI-anchor transamidase complex
Protein Structure and Domains
PDB ID
InterPro IPR007245 GPI transamidase component PIG-T
PFAM PF04113
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt
PhosphoSite PhosphoSite-Q969N2
TrEMBL B7Z7C5
UniProt Splice Variant
Entrez Gene 51604
UniGene Hs.437388
RefSeq
HUGO HGNC:14938
OMIM 610272
CCDS
HPRD 15136
IMGT
EMBL AK301815 AL021578
GenPept BAH13561

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca