Phosphatidylinositol 3-kinase regulatory subunit alpha is an
enzyme that in humans is encoded by the ''PIK3R1''
gene.
Function
Phosphatidylinositol 3-kinase phosphorylates the
inositol
Inositol, or more precisely ''myo''-inositol, is a carbocyclic sugar that is abundant in the brain and other mammalian tissues; it mediates cell signal transduction in response to a variety of hormones, neurotransmitters, and growth factors and ...
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
Insulin (, from Latin ''insula'', 'island') is a peptide hormone produced by beta cells of the pancreatic islets encoded in humans by the ''INS'' gene. It is considered to be the main anabolic hormone of the body. It regulates the metabolism o ...
, and a mutation in this gene has been associated with
insulin resistance
Insulin resistance (IR) is a pathological condition in which cell (biology), cells fail to respond normally to the hormone insulin.
Insulin is a hormone that facilitates the transport of glucose from blood into cells, thereby reducing blood gluco ...
. Alternative splicing of this gene results in three transcript variants encoding different isoforms.
Clinical significance
Mutations in ''PIK3R1'' are implicated in cases of
breast cancer.
Mutations in PIK3R1 are associated to
SHORT syndrome.
Interactions
PIK3R1 has been shown to
interact with:
*
ADAM12,
*
BCAR1,
*
CBLB,
*
CD117,
*
CD28
CD28 (Cluster of Differentiation 28) is one of the proteins expressed on T cells that provide co-stimulatory signals required for T cell activation and survival. T cell stimulation through CD28 in addition to the T-cell receptor ( TCR) can provid ...
,
*
CD7,
*
CENTG1,
*
CBL,
*
EPHA2,
*
EPOR,
IRS2
Insulin receptor substrate 2 is a protein that in humans is encoded by the ''IRS2'' gene.
Function
This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth facto ...
,IL1R1
Interleukin 1 receptor, type I (IL1R1) also known as CD121a (Cluster of Differentiation 121a), is an interleukin receptor. IL1R1 also denotes its human gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to de ...
,[ and
* ]WAS
Was or WAS may refer to:
* ''Was'', a past-tense form of the English copular verb ''to be''
People
* David Was (born c. 1952), the stage name of multi-instrumentalist and songwriter David Weiss
* Don Was (born 1952), the stage name of bass gui ...
.
References
Further reading
*
*
*
*
*
*
*
{{PDB Gallery, geneid=5295