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Reviewed December 2013
What is the official name of the PIK3R1 gene?
The official name of this gene is “phosphoinositide-3-kinase, regulatory subunit 1 (alpha).”
PIK3R1 is the gene's official symbol. The PIK3R1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PIK3R1 gene?
The PIK3R1 gene provides instructions for making a part (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). The primary function of the subunit is to regulate the enzyme's activity. Several slightly different versions of this regulatory subunit are produced from the PIK3R1 gene; the most abundant of these is called p85α.
PI3K is a kinase, which means that it adds a cluster of oxygen and phosphorus atoms (a phosphate group) to other proteins through a process called phosphorylation. PI3K phosphorylates certain signaling molecules, which triggers a series of additional reactions that transmit chemical signals within cells. PI3K signaling is important for many cell activities, including cell growth and division, movement (migration) of cells, production of new proteins, transport of materials within cells, and cell survival. Studies suggest that PI3K signaling may be involved in the regulation of several hormones, including insulin, which helps control blood sugar levels. PI3K signaling may also play a role in the maturation of fat cells (adipocytes).
Does the PIK3R1 gene share characteristics with other genes?
The PIK3R1 gene belongs to a family of genes called SH2 domain containing (SH2 domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the PIK3R1 gene related to health conditions?
Where is the PIK3R1 gene located?
Cytogenetic Location: 5q13.1
Molecular Location on chromosome 5: base pairs 68,215,755 to 68,301,820
The PIK3R1 gene is located on the long (q) arm of chromosome 5 at position 13.1.
More precisely, the PIK3R1 gene is located from base pair 68,215,755 to base pair 68,301,820 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PIK3R1?
You and your healthcare professional may find the following resources about PIK3R1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PIK3R1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PIK3R1?
adipocytes ; amino acid ; arginine ; cancer ; cell ; colon ; depression ; diabetes ; endometrial ; enzyme ; fat cells ; fatty tissue ; gene ; glioblastoma ; hernia ; insulin ; insulin resistance ; kinase ; mutation ; oncogene ; ovary ; oxygen ; phosphate ; phosphorus ; phosphorylation ; protein ; short stature ; stature ; subunit ; syndrome ; tissue ; tryptophan
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.