ID:PI3R5_HUMAN DESCRIPTION: RecName: Full=Phosphoinositide 3-kinase regulatory subunit 5; Short=PI3-kinase regulatory subunit 5; AltName: Full=PI3-kinase p101 subunit; AltName: Full=Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit; Short=PtdIns-3-kinase regulatory subunit; AltName: Full=Protein FOAP-2; AltName: Full=PtdIns-3-kinase p101; AltName: Full=p101-PI3K; FUNCTION: Regulatory 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). ENZYME REGULATION: Greatly activated by G gamma proteins (By similarity). SUBUNIT: Heterodimer of a catalytic subunit (PIK3CG/p120) and a regulatory (PIK3R5a/p101) subunit. Interacts with beta-gamma G protein dimers. SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). TISSUE SPECIFICITY: Ubiquitously expressed with high expression in fetal brain compared to adult brain. Abundant expression is observed in cerebellum, cerebral cortex, cerebral meninges, and vermis cerebelli. DOMAIN: The heterodimerization region allows the binding to the catalytic subunit. DISEASE: Note=Defects in PIK3R5 may be a cause of autosomal recessive ataxia with oculomotor apraxia (AOA). A PIK3R5 mutation segregates with the disease phenotype in a family affected by gait ataxia, cerebellar dysarthric speech, and impaired ocular movement. Additional features include reduced or absent tendon reflexes, severe cerebellar atrophy, marked vermal atrophy, moderately severe axonal sensory polyneuropathy with absent sensory nerve action potential in the lower extremities, and persistently elevated alpha-fetoprotein levels.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WYR1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.