ARID1B
| ARID1B | |||
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Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 6: 156.78 – 157.21 Mb | Chr 17: 5.04 – 5.4 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ARID1B gene.[5] ARID1B is a component of the human SWI/SNF chromatin remodeling complex.
Clinical significance
Germline mutations in ARID1B are associated with Coffin–Siris syndrome.[6][7] Somatic mutations in ARID1B are associated with several cancer subtypes, suggesting that it is a tumor suppressor gene.[8][9][10][11]
Interactions
ARID1B has been shown to
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000049618 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000069729 – 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.
- ^ "Entrez Gene: ARID1B AT rich interactive domain 1B (SWI1-like)".
- S2CID 205345340.
- S2CID 205345323.
- PMID 23355908.
- PMID 23202128.
- PMID 22233809.
- S2CID 54585617.
- PMID 11988099.
- ^ PMID 12200431.
Further reading
- Martens JA, Winston F (2003). "Recent advances in understanding chromatin remodeling by Swi/Snf complexes". Curr. Opin. Genet. Dev. 13 (2): 136–42. PMID 12672490.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
- Imbert G, Saudou F, Yvert G, et al. (1996). "Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats". Nat. Genet. 14 (3): 285–91. S2CID 9304975.
- Mangel L, Ternes T, Schmitz B, Doerfler W (1998). "New 5'-(CGG)n-3' repeats in the human genome". J. Biol. Chem. 273 (46): 30466–71. PMID 9804814.
- Phelan ML, Sif S, Narlikar GJ, Kingston RE (1999). "Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits". Mol. Cell. 3 (2): 247–53. PMID 10078207.
- Nagase T, Ishikawa K, Kikuno R, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (5): 337–45. PMID 10574462.
- Xue Y, Canman JC, Lee CS, et al. (2001). "The human SWI/SNF-B chromatin-remodeling complex is related to yeast Rsc and localizes at kinetochores of mitotic chromosomes". Proc. Natl. Acad. Sci. U.S.A. 97 (24): 13015–20. PMID 11078522.
- Kato H, Tjernberg A, Zhang W, et al. (2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". J. Biol. Chem. 277 (7): 5498–505. PMID 11734557.
- Hurlstone AF, Olave IA, Barker N, et al. (2002). "Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein". Biochem. J. 364 (Pt 1): 255–64. PMID 11988099.
- Inoue H, Furukawa T, Giannakopoulos S, et al. (2003). "Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors". J. Biol. Chem. 277 (44): 41674–85. PMID 12200431.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Nie Z, Yan Z, Chen EH, et al. (2003). "Novel SWI/SNF Chromatin-Remodeling Complexes Contain a Mixed-Lineage Leukemia Chromosomal Translocation Partner". Mol. Cell. Biol. 23 (8): 2942–52. PMID 12665591.
- Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. PMID 14574404.
- Garin G, Badid C, McGregor B, et al. (2004). "Ischemia Induces Early Expression of a New Transcription Factor (6A3-5) in Kidney Vascular Smooth Muscle Cells : Studies in Rat and Human Renal Pathology". Am. J. Pathol. 163 (6): 2485–94. PMID 14633620.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. PMID 14702039.
- Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97–105. S2CID 11683986.
- Wilsker D, Patsialou A, Zumbrun SD, et al. (2004). "The DNA-binding properties of the ARID-containing subunits of yeast and mammalian SWI/SNF complexes". Nucleic Acids Res. 32 (4): 1345–53. PMID 14982958.
- Wang X, Nagl NG, Wilsker D, et al. (2005). "Two related ARID family proteins are alternative subunits of human SWI/SNF complexes". Biochem. J. 383 (Pt 2): 319–25. PMID 15170388.
- Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. PMID 15231748.
External links
- ARID1B+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human ARID1B genome location and ARID1B gene details page in the UCSC Genome Browser.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.