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Reviewed October 2014
What is the official name of the STIM1 gene?
The official name of this gene is “stromal interaction molecule 1.”
STIM1 is the gene's official symbol. The STIM1 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 STIM1 gene?
The STIM1 gene provides instructions for making a protein called stromal interaction molecule 1 (STIM1). The STIM1 protein is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells when levels of the ions are low, specifically through channels called calcium-release activated calcium (CRAC) channels. The flow of calcium ions through CRAC channels triggers signaling within cells that plays a role in many cellular functions including control of gene activity, cell growth and division, and immune function.
STIM1 is found in the membrane of a cellular structure called the endoplasmic reticulum (ER), which, among other functions, stores calcium in cells. STIM1 recognizes when calcium levels in the ER are low and stimulates changes in the cell that allow STIM1 to attach (bind) to a protein called ORAI1 in the cell membrane. This protein, which is part of the CRAC channel, forms a hole (pore) in the cell membrane through which calcium ions can flow. STIM1 binding triggers the flow of calcium ions into the cell through the channel. STIM1 also likely plays a role in the process that stops the flow of calcium ions when enough calcium has entered.
STIM1 is also found in the sarcoplasmic reticulum, a structure similar to the ER that is found in muscle cells. This structure plays a major role in muscle contraction and relaxation by storing and releasing calcium ions. The STIM1 protein is thought to help replenish calcium stores in the sarcoplasmic reticulum through CRAC channels. It may also be involved in the release of calcium ions from the sarcoplasmic reticulum, which stimulates muscle contraction.
How are changes in the STIM1 gene related to health conditions?
Where is the STIM1 gene located?
Cytogenetic Location: 11p15.5
Molecular Location on chromosome 11: base pairs 3,855,703 to 4,093,210
The STIM1 gene is located on the short (p) arm of chromosome 11 at position 15.5.
More precisely, the STIM1 gene is located from base pair 3,855,703 to base pair 4,093,210 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about STIM1?
You and your healthcare professional may find the following resources about STIM1 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 STIM1 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 STIM1?
acids ; aggregate ; amino acid ; arginine ; calcium ; cell ; cell membrane ; channel ; contraction ; endoplasmic reticulum ; ER ; gene ; immune system ; immunodeficiency ; ions ; molecule ; muscle cells ; mutation ; platelets ; protein ; sarcoplasmic reticulum ; syndrome ; thrombocytopenia ; tryptophan
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (15 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.