ARID1A

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Protein-coding gene in humans

title: "ARID1A" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public tags: ["transcription-factors"] description: "Protein-coding gene in humans" topic_path: "arts/film" source: "https://en.wikipedia.org/wiki/ARID1A" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in humans ::

AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.

Function

ARID1A is a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodelling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The protein has two large intrinsically disordered regions (IDRs) that mediate the interaction with binding partners. It also possesses at least two conserved domains that are important for its function. First, it has an ARID domain, which is a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SWI/SNF complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. The protein encoded by this gene confers specificity to the SWI/SNF complex and recruits the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene.

Clinical significance

The gene encoding ARID1A is the most frequently mutated SWI/SNF subunit across cancers. This gene has been commonly found mutated in different cancers leading to loss of function, including gastric cancers, colon cancer, ovarian clear cell carcinoma, liver cancer, lymphoma and pancreatic cancer. In breast cancer distant metastases acquire inactivation mutations in ARID1A not seen in the primary tumor, and reduced ARID1A expression confers resistance to different drugs such as trastuzumab and mTOR inhibitors. These findings provide a rationale for why tumors accumulate ARID1A mutations.

Research

Lack of this gene/protein seems to protect rats from some types of liver damage.

Interactions

ARID1A interacts with SWI/SNF subunits SMARCB1 and SMARCA4. Intrinsically disordered regions of ARID1A enable the SWI/SNF complex to interact with multiple transcription factors through binding of the ARM domain of beta-catenin.

References

References

  1. (June 1998). "Chromosomal mapping and expression of the human B120 gene". Gene.
  2. (December 1997). "Molecular cloning and expression of a novel human cDNA containing CAG repeats". Gene.
  3. "Entrez Gene: ARID1A AT rich interactive domain 1A (SWI-like)".
  4. (2025-07-15). "β-catenin functions as a molecular adapter for disordered cBAF interactions". Molecular Cell.
  5. (October 2023). "A disordered region controls cBAF activity via condensation and partner recruitment". Cell.
  6. (November 2023). "Context-specific functions of chromatin remodellers in development and disease". Nature Reviews. Genetics.
  7. (October 2011). "Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer". Nature Genetics.
  8. (February 2017). "ARID1A loss impairs enhancer-mediated gene regulation and drives colon cancer in mice". Nature Genetics.
  9. (October 2010). "ARID1A mutations in endometriosis-associated ovarian carcinomas". The New England Journal of Medicine.
  10. (November 2017). "Arid1a Has Context-Dependent Oncogenic and Tumor Suppressor Functions in Liver Cancer". Cancer Cell.
  11. (March 2024). "ARID1A orchestrates SWI/SNF-mediated sequential binding of transcription factors with ARID1A loss driving pre-memory B cell fate and lymphomagenesis". Cancer Cell.
  12. (January 2012). "Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer". Proceedings of the National Academy of Sciences of the United States of America.
  13. (November 2016). "Loss of ARID1A Activates ANXA1, which Serves as a Predictive Biomarker for Trastuzumab Resistance". Clinical Cancer Research.
  14. (August 2017). "Genomic Evolution of Breast Cancer Metastasis and Relapse". Cancer Cell.
  15. (March 2016). "Tissue Regeneration Promoted through Gene Suppression". Genetic Engineering & Biotechnology News.
  16. (February 2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". The Journal of Biological Chemistry.
  17. (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". The EMBO Journal.
  18. (November 1998). "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell.

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transcription-factors