Phosphatidylinositol 3-kinase regulatory subunit alpha is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecule ...
that in humans is encoded by the ''PIK3R1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
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
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 metabol ...
, and a mutation in this gene has been associated with
insulin resistance
Insulin resistance (IR) is a pathological condition in which 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 glucose (blood suga ...
. 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
Breast cancer is cancer that develops from breast tissue. Signs of breast cancer may include a lump in the breast, a change in breast shape, dimpling of the skin, milk rejection, fluid coming from the nipple, a newly inverted nipple, or ...
.
Mutations in PIK3R1 are associated to
SHORT syndrome
SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.
It was characterized in 1975.
Presentation
SHORT is an acronym
An acronym is a word or name formed from the initi ...
.
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 prov ...
,
*
CD7,
*
CENTG1,
*
CBL,
*
EPHA2,
*
EPOR,
ERBB3
Receptor tyrosine-protein kinase erbB-3, also known as HER3 (human epidermal growth factor receptor 3), is a membrane bound protein that in humans is encoded by the ''ERBB3'' gene.
ErbB3 is a member of the epidermal growth factor receptor (EGF ...
,HRAS
GTPase HRas, from "Harvey Rat sarcoma virus", also known as transforming protein p21 is an enzyme that in humans is encoded by the gene. The ''HRAS'' gene is located on the short (p) arm of chromosome 11 at position 15.5, from base pair 522,241 ...
,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 ...
,KHDRBS1
KH domain-containing, RNA-binding, signal transduction-associated protein 1 is a protein that in humans is encoded by the ''KHDRBS1'' gene.
This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associate ...
,[ 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
*
*
*
*
*
*
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{{PDB Gallery, geneid=5295