MGP Database

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MGP004700

UniProt Annotations

Entry Information
Gene Namephosphoinositide-3-kinase, regulatory subunit 5
Protein EntryPI3R5_HUMAN
UniProt IDQ8WYR1
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WYR1-1; Sequence=Displayed; Name=2; IsoId=Q8WYR1-2; Sequence=VSP_016388; Note=No experimental confirmation available.;
DiseaseAtaxia-oculomotor apraxia 3 (AOA3) [MIM:615217]: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. {ECO:0000269|PubMed:22065524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe heterodimerization region allows the binding to the catalytic subunit.
Enzyme RegulationGreatly activated by G gamma proteins. {ECO:0000250}.
FunctionRegulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity). {ECO:0000250}.
Subcellular LocationNucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
SubunitHeterodimer of a catalytic subunit (PIK3CG/p120) and a regulatory (PIK3R5a/p101) subunit. Interacts with beta-gamma G protein dimers. {ECO:0000269|PubMed:15797027}.
Tissue SpecificityUbiquitously expressed with high expression in fetal brain compared to adult brain. Abundant expression is observed in cerebellum, cerebral cortex, cerebral meninges, and vermis cerebelli. {ECO:0000269|PubMed:15797027, ECO:0000269|PubMed:22065524}.
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