PIK3R1

Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the PIK3R1 gene.[5]

PIK3R1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPIK3R1, AGM7, GRB1, IMD36, p85, p85-ALPHA, phosphoinositide-3-kinase regulatory subunit 1, PI3KR1
External IDsOMIM: 171833 MGI: 97583 HomoloGene: 7889 GeneCards: PIK3R1
Orthologs
SpeciesHumanMouse
Entrez

5295

18708

Ensembl

ENSG00000145675

ENSMUSG00000041417

UniProt

P27986

P26450

RefSeq (mRNA)

NM_001242466
NM_181504
NM_181523
NM_181524

NM_001024955
NM_001077495

RefSeq (protein)

NP_001229395
NP_852556
NP_852664
NP_852665

NP_001020126
NP_001070963

Location (UCSC)Chr 5: 68.22 – 68.3 MbChr 13: 101.82 – 101.9 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in three transcript variants encoding different isoforms.[6]

Clinical significance

Mutations in PIK3R1 are implicated in cases of breast cancer.[7]

Mutations in PIK3R1 are associated to SHORT syndrome.[8]

Interactions

PIK3R1 has been shown to interact with:

References
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  2. GRCm38: Ensembl release 89: ENSMUSG00000041417 - Ensembl, May 2017
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