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Genetics Home Reference: your guide to understanding genetic conditions
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ARID1A

Reviewed May 2013

What is the official name of the ARID1A gene?

The official name of this gene is “AT rich interactive domain 1A (SWI-like).”

ARID1A is the gene's official symbol. The ARID1A gene is also known by other names, listed below.

What is the normal function of the ARID1A gene?

The ARID1A gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed.

Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells. The ARID1A protein and other SWI/SNF subunits are thought to act as tumor suppressors, which keep cells from growing and dividing too rapidly or in an uncontrolled way.

The ARID1A subunit is able to attach (bind) to DNA and is thought to help target SWI/SNF complexes to the chromatin location that needs to be remodeled.

How are changes in the ARID1A gene related to health conditions?

Coffin-Siris syndrome - caused by mutations in the ARID1A gene

At least three mutations in the ARID1A gene can cause Coffin-Siris syndrome. This condition is characterized by delayed development, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features that are described as coarse. The ARID1A gene mutations involved in Coffin-Siris syndrome lead to an abnormally short, nonfunctional protein. As a result, affected individuals have half the normal amount of functioning ARID1A protein. Although it is unclear how these changes affect SWI/SNF complexes, researchers suggest that ARID1A gene mutations result in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts several cellular processes, which could explain the diverse signs and symptoms of Coffin-Siris syndrome. People with Coffin-Siris syndrome do not appear to have an increased risk of cancer (see below).

cancers - associated with the ARID1A gene

Mutations in the ARID1A gene have been found in many types of cancer, including cancers of the ovaries and lining of the uterus (endometrium) in women and cancers of the kidney, stomach, bladder, lung, breast, and brain. These mutations are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. The mechanism by which mutations in the ARID1A gene contribute to cancer is unknown, although it is thought that changes in SWI/SNF complexes are involved. These changes may impair normal cell differentiation, which leads to the overgrowth of certain cell types, causing cancer. Alternatively, abnormal SWI/SNF complexes may disrupt the regulation of genes that help control the growth and division of cells, which leads to cancer. It is likely that other genetic changes in addition to ARID1A gene mutations are necessary for cancer development.

Where is the ARID1A gene located?

Cytogenetic Location: 1p35.3

Molecular Location on chromosome 1: base pairs 26,696,030 to 26,782,109

The ARID1A gene is located on the short (p) arm of chromosome 1 at position 35.3.

The ARID1A gene is located on the short (p) arm of chromosome 1 at position 35.3.

More precisely, the ARID1A gene is located from base pair 26,696,030 to base pair 26,782,109 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ARID1A?

You and your healthcare professional may find the following resources about ARID1A 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 ARID1A gene or gene products?

  • ARI1A_HUMAN
  • ARID domain-containing protein 1A
  • AT-rich interactive domain-containing protein 1A
  • B120
  • BAF250
  • BAF250a
  • BM029
  • brain protein 120
  • BRG1-associated factor 250a
  • C1orf4
  • chromatin remodeling factor p250
  • ELD
  • hELD
  • hOSA1
  • MRD14
  • OSA1
  • OSA1 nuclear protein
  • osa homolog 1
  • P270
  • SMARCF1
  • SWI-like protein
  • SWI/SNF complex protein p270
  • SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ARID1A?

actin ; cancer ; cell ; chromatin ; chromatin remodeling ; differentiation ; DNA ; domain ; endometrium ; gene ; gene expression ; kidney ; protein ; stomach ; subunit ; syndrome ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • OMIM: AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1A (http://omim.org/entry/603024)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8289)
  • Santen GW, Kriek M, van Attikum H. SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability. Epigenetics. 2012 Nov;7(11):1219-24. doi: 10.4161/epi.22299. Epub 2012 Sep 25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23010866?dopt=Abstract)
  • Shain AH, Pollack JR. The spectrum of SWI/SNF mutations, ubiquitous in human cancers. PLoS One. 2013;8(1):e55119. doi: 10.1371/journal.pone.0055119. Epub 2013 Jan 23. (http://www.ncbi.nlm.nih.gov/pubmed/23355908?dopt=Abstract)
  • Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. (http://www.ncbi.nlm.nih.gov/pubmed/22426308?dopt=Abstract)
  • Wang X, Nagl NG, Wilsker D, Van Scoy M, Pacchione S, Yaciuk P, Dallas PB, Moran E. Two related ARID family proteins are alternative subunits of human SWI/SNF complexes. Biochem J. 2004 Oct 15;383(Pt 2):319-25. (http://www.ncbi.nlm.nih.gov/pubmed/15170388?dopt=Abstract)
  • Wilson BG, Roberts CW. SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer. 2011 Jun 9;11(7):481-92. doi: 10.1038/nrc3068. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21654818?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2013
Published: January 27, 2015