PIK3R1
From Infogalactic: the planetary knowledge core
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the PIK3R1 gene.[1]
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.[2]
Clinical significance
Mutations in PIK3R1 are implicated in cases of breast cancer .[3]
Mutations in PIK3R1 are associated to SHORT syndrome .[4]
Interactions
PIK3R1 has been shown to interact with:
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- ADAM12,[5]
- BCAR1,[6]
- CBLB,[7][8]
- CD117,[9][10][11]
- CD28,[12]
- CD7,[13][14]
- CENTG1,[15]
- CBL,[16][17][18]
- EPHA2,[19]
- EPOR,[20][21]
- ERBB3,[22][23]
- EZR,[24]
- FCGR2A,[25][26]
- GAB1,[27][28][29]
- GAB2,[30][31]
- Grb2,[32][33]
- HRAS,[34][35]
- IRS1[36][37][38][39]
- IRS2,[36][40][41][42]
- IL1R1,[43]
- JAK2,[44]
- KHDRBS1,[45][46]
- LTK,[47][48]
- LAT,[49]
- LCP2,[50]
- PIK3CD,[51]
- PTK2,[52]
- SHB,[53]
- TUBA1B,[54]
- TYRO3,[55]
- VAV1,[20][27] and
- WAS.[56]
References
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<references />, or <references group="..." />Further reading
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