Phosphatidylinositol 3-Kinase, Regulatory Subunit 1

Alternative Names

  • PIK3R1
  • Phosphatidylinositol 3-Kinase-Associated p85-Alpha
  • GRB1
  • Phosphatidylinositol 3-Kinase, Regulatory Subunit, 85-kD, Alpha p85-Alpha

Associated Diseases

Ovarian Cancer
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OMIM Number

171833

NCBI Gene ID

5295

Uniprot ID

P27986

Length

86,085 bases

No. of Exons

22

No. of isoforms

5

Protein Name

Phosphatidylinositol 3-Kinase Regulatory Subunit Alpha

Molecular Mass

83598 Da

Amino Acid Count

724

Genomic Location

chr5:68,215,736-68,301,820

Gene Map Locus
5q13.1

Description

Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin...[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_181523.3:c.1346T>CLebanonchr5:68293755Risk factorOvarian CancerNG_012849.2:g.83000T>C; NM_181523.3:c.1346T>C; NP_852664.1:p.Leu449Ser
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