PIK3R5 gene

phosphoinositide-3-kinase regulatory subunit 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ataxia-oculomotor apraxia 3

From UniProt:

Ataxia-oculomotor apraxia 3 (AOA3): An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. [MIM:615217]

Cytogenetic Location: 17p13.1, which is the short (p) arm of chromosome 17 at position 13.1

Molecular Location: base pairs 8,878,916 to 8,965,712 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.1, which is the short (p) arm of chromosome 17 at position 13.1
  • F730038I15Rik
  • FOAP-2
  • p101
  • P101-PI3K