ARID1A

ARID1A
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1RYU
Identifiers
Aliases	ARID1A, B120, BAF250, BAF250a, BM029, C1orf4, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1, CSS2, AT-rich interaction domain 1A
External IDs	OMIM: 603024 MGI: 1935147 HomoloGene: 21216 GeneCards: ARID1A
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	26,782,104 bp[1]
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)[2]
End	133,756,769 bp[2]
RNA expression pattern
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	• DNA binding; • GO:0001105 transcription coactivator activity; • GO:0001948 protein binding; • ligand-dependent nuclear receptor binding; • nucleosome binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	• nBAF complex; • SWI/SNF complex; • nucleoplasm; • npBAF complex; • nuclear chromatin; • cell nucleus; • SWI/SNF superfamily-type complex; • brahma complex;
Biological process	• androgen receptor signaling pathway; • chromatin remodeling; • regulation of transcription, DNA-templated; • regulation of transcription from RNA polymerase II promoter; • cardiac muscle cell differentiation; • optic cup formation involved in camera-type eye development; • nucleosome mobilization; • placenta blood vessel development; • negative regulation of transcription from RNA polymerase II promoter; • toxin transport; • chromatin organization; • transcription, DNA-templated; • nervous system development; • cardiac chamber development; • ATP-dependent chromatin remodeling; • positive regulation of transcription, DNA-templated; • neural tube closure; • nucleosome disassembly; • chromatin-mediated maintenance of transcription; • forebrain development; • intracellular estrogen receptor signaling pathway; • glucocorticoid receptor signaling pathway; • formation of primary germ layer; • gastrulation; • embryo implantation; • stem cell population maintenance;
	Sources:Amigo / QuickGO
Orthologs
	8289
	93760
	ENSG00000117713
	ENSMUSG00000007880
	O14497
	A2BH40
	NM_139135; NM_006015; NM_018450
	NM_001080819; NM_001363070
	NP_006006; NP_624361
	NP_001074288; NP_001349999
	Wikidata
View/Edit Human	View/Edit Mouse

AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.[5][6][7]

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. It possesses at least two conserved domains that could be 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. It is thought that the protein encoded by this gene confers specificity to the SWI/SNF complex and may recruit 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.[7]

Clinical significance

This gene has been commonly found mutated in gastric cancers,[8] ovarian clear cell carcinoma,[9] and pancreatic cancer.[10] 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.[11][12]

Research

Lack of this gene/protein seems to protect rats from some types of liver damage.[13]

Interactions

ARID1A has been shown to interact with SMARCB1[14][15] and SMARCA4.[15][16]

References

GRCh38: Ensembl release 89: ENSG00000117713 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000007880 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Takeuchi T, Furihata M, Heng HH, Sonobe H, Ohtsuki Y (June 1998). "Chromosomal mapping and expression of the human B120 gene". Gene. 213 (1–2): 189–93. doi:10.1016/S0378-1119(98)00194-2. PMID 9630625.
Takeuchi T, Chen BK, Qiu Y, Sonobe H, Ohtsuki Y (December 1997). "Molecular cloning and expression of a novel human cDNA containing CAG repeats". Gene. 204 (1–2): 71–7. doi:10.1016/S0378-1119(97)00525-8. PMID 9434167.
"Entrez Gene: ARID1A AT rich interactive domain 1A (SWI-like)".
Wang K, Kan J, Yuen ST, Shi ST, Chu KM, Law S, et al. (October 2011). "Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer". Nature Genetics. 43 (12): 1219–23. doi:10.1038/ng.982. PMID 22037554. S2CID 8884065.
Wiegand KC, Shah SP, Al-Agha OM, Zhao Y, Tse K, Zeng T, et al. (October 2010). "ARID1A mutations in endometriosis-associated ovarian carcinomas". The New England Journal of Medicine. 363 (16): 1532–43. doi:10.1056/NEJMoa1008433. PMC 2976679. PMID 20942669.
Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, et al. (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. 109 (5): E252-9. doi:10.1073/pnas.1114817109. PMC 3277150. PMID 22233809.
Berns K, Sonnenblick A, Gennissen A, Brohée S, Hijmans EM, Evers B, et al. (November 2016). "Loss of ARID1A Activates ANXA1, which Serves as a Predictive Biomarker for Trastuzumab Resistance". Clinical Cancer Research. 22 (21): 5238–5248. doi:10.1158/1078-0432.CCR-15-2996. PMID 27172896.
Yates LR, Knappskog S, Wedge D, Farmery JH, Gonzalez S, Martincorena I, et al. (August 2017). "Genomic Evolution of Breast Cancer Metastasis and Relapse". Cancer Cell. 32 (2): 169–184.e7. doi:10.1016/j.ccell.2017.07.005. PMC 5559645. PMID 28810143.
"Tissue Regeneration Promoted through Gene Suppression". Genetic Engineering & Biotechnology News. March 2016.
Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, et al. (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. 277 (7): 5498–505. doi:10.1074/jbc.M108702200. PMID 11734557.
Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, et al. (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". The EMBO Journal. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.
Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (November 1998). "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell. 95 (5): 625–36. doi:10.1016/S0092-8674(00)81633-5. PMID 9845365. S2CID 3184211.

External links

ARID1A+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
Human ARID1A genome location and ARID1A gene details page in the UCSC Genome Browser.
Overview of all the structural information available in the PDB for UniProt: O14497 (AT-rich interactive domain-containing protein 1A) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000117713 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000007880 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9630625-5] Takeuchi T, Furihata M, Heng HH, Sonobe H, Ohtsuki Y (June 1998). "Chromosomal mapping and expression of the human B120 gene". Gene. 213 (1–2): 189–93. doi:10.1016/S0378-1119(98)00194-2. PMID 9630625.

[pmid9434167-6] Takeuchi T, Chen BK, Qiu Y, Sonobe H, Ohtsuki Y (December 1997). "Molecular cloning and expression of a novel human cDNA containing CAG repeats". Gene. 204 (1–2): 71–7. doi:10.1016/S0378-1119(97)00525-8. PMID 9434167.

[entrez-7] "Entrez Gene: ARID1A AT rich interactive domain 1A (SWI-like)".

[pmid22037554-8] Wang K, Kan J, Yuen ST, Shi ST, Chu KM, Law S, et al. (October 2011). "Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer". Nature Genetics. 43 (12): 1219–23. doi:10.1038/ng.982. PMID 22037554. S2CID 8884065.

[pmid20942669-9] Wiegand KC, Shah SP, Al-Agha OM, Zhao Y, Tse K, Zeng T, et al. (October 2010). "ARID1A mutations in endometriosis-associated ovarian carcinomas". The New England Journal of Medicine. 363 (16): 1532–43. doi:10.1056/NEJMoa1008433. PMC 2976679. PMID 20942669.

[pmid22233809-10] Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, et al. (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. 109 (5): E252-9. doi:10.1073/pnas.1114817109. PMC 3277150. PMID 22233809.

[pmid27172896-11] Berns K, Sonnenblick A, Gennissen A, Brohée S, Hijmans EM, Evers B, et al. (November 2016). "Loss of ARID1A Activates ANXA1, which Serves as a Predictive Biomarker for Trastuzumab Resistance". Clinical Cancer Research. 22 (21): 5238–5248. doi:10.1158/1078-0432.CCR-15-2996. PMID 27172896.

[12] Yates LR, Knappskog S, Wedge D, Farmery JH, Gonzalez S, Martincorena I, et al. (August 2017). "Genomic Evolution of Breast Cancer Metastasis and Relapse". Cancer Cell. 32 (2): 169–184.e7. doi:10.1016/j.ccell.2017.07.005. PMC 5559645. PMID 28810143.

[13] "Tissue Regeneration Promoted through Gene Suppression". Genetic Engineering & Biotechnology News. March 2016.

[pmid11734557-14] Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, et al. (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. 277 (7): 5498–505. doi:10.1074/jbc.M108702200. PMID 11734557.

[pmid8895581-15] Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, et al. (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". The EMBO Journal. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.

[pmid9845365-16] Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (November 1998). "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell. 95 (5): 625–36. doi:10.1016/S0092-8674(00)81633-5. PMID 9845365. S2CID 3184211.