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IRS1

IRS1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the IRS1 gene?

The official name of this gene is “insulin receptor substrate 1.”

IRS1 is the gene's official symbol. The IRS1 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 IRS1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]

From UniProt (IRS1_HUMAN)This link leads to a site outside Genetics Home Reference.:

May mediate the control of various cellular processes by insulin. When phosphorylated by the insulin receptor binds specifically to various cellular proteins containing SH2 domains such as phosphatidylinositol 3-kinase p85 subunit or GRB2. Activates phosphatidylinositol 3-kinase when bound to the regulatory p85 subunit.

How are changes in the IRS1 gene related to health conditions?

UniProt (IRS1_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the IRS1 gene's known or predicted involvement in human disease.

Diabetes mellitus, non-insulin-dependent (NIDDM): A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. The gene represented in this entry may be involved in disease pathogenesis.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the IRS1 gene.
  • Diabetes mellitus type 2
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the IRS1 gene and its association with health conditions.
OMIM
Number
Title

Where is the IRS1 gene located?

Cytogenetic Location: 2q36

Molecular Location on chromosome 2: base pairs 226,731,317 to 226,798,790

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The IRS1 gene is located on the long (q) arm of chromosome 2 at position 36.

The IRS1 gene is located on the long (q) arm of chromosome 2 at position 36.

More precisely, the IRS1 gene is located from base pair 226,731,317 to base pair 226,798,790 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about IRS1?

You and your healthcare professional may find the following resources about IRS1 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 IRS1 gene or gene products?

  • HIRS-1

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 IRS1?

diabetes ; diabetes mellitus ; gene ; glucose ; homeostasis ; hypertension ; hypertriglyceridemia ; insulin ; insulin resistance ; kinase ; mediate ; protein ; receptor ; sensitivity ; subunit ; susceptibility ; syndrome ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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.

 
Published: February 8, 2016