From Wikipedia, the free encyclopedia
Protein-coding gene in humans
ARID1B
Identifiers
Aliases
ARID1B , 6A3-5, BAF250B, BRIGHT, DAN15, ELD/OSA1, MRD12, OSA2, P250R, CSS1, AT-rich interaction domain 1B, SMARCF2External IDs
OMIM :
614556
MGI :
1926129
HomoloGene :
32344
GeneCards :
ARID1B
Wikidata
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
interact with
SMARCA4
[12]
[13] and
SMARCA2 .
[13]
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)" .
^ 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 (April 2012). "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome". Nat. Genet . 44 (4): 376–8.
doi :
10.1038/ng.2219 .
PMID
22426308 .
S2CID
205345340 .
^ Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M (April 2012). "Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome". Nat. Genet . 44 (4): 379–80.
doi :
10.1038/ng.2217 .
PMID
22426309 .
S2CID
205345323 .
^ Shain AH, Pollack JR (2013).
"The spectrum of SWI/SNF mutations, ubiquitous in human cancers" . PLOS ONE . 8 (1): e55119.
Bibcode :
2013PLoSO...855119S .
doi :
10.1371/journal.pone.0055119 .
PMC
3552954 .
PMID
23355908 .
^ Sausen M, Leary RJ, Jones S, Wu J, Reynolds CP, Liu X, Blackford A, Parmigiani G, Diaz LA, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE, Hogarty MD (January 2013).
"Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma" . Nat. Genet . 45 (1): 12–7.
doi :
10.1038/ng.2493 .
PMC
3557959 .
PMID
23202128 .
^ Shain AH, Giacomini CP, Matsukuma K, Karikari CA, Bashyam MD, Hidalgo M, Maitra A, Pollack JR (January 2012).
"Convergent structural alterations define SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeler as a central tumor suppressive complex in pancreatic cancer" . Proc. Natl. Acad. Sci. U.S.A . 109 (5): E252–9.
doi :
10.1073/pnas.1114817109 .
PMC
3277150 .
PMID
22233809 .
^ Fujimoto A, Totoki Y, Abe T, Boroevich KA, Hosoda F, Nguyen HH, Aoki M, Hosono N, Kubo M, Miya F, Arai Y, Takahashi H, Shirakihara T, Nagasaki M, Shibuya T, Nakano K, Watanabe-Makino K, Tanaka H, Nakamura H, Kusuda J, Ojima H, Shimada K, Okusaka T, Ueno M, Shigekawa Y, Kawakami Y, Arihiro K, Ohdan H, Gotoh K, Ishikawa O, Ariizumi S, Yamamoto M, Yamada T, Chayama K, Kosuge T, Yamaue H, Kamatani N, Miyano S, Nakagama H, Nakamura Y, Tsunoda T, Shibata T, Nakagawa H (July 2012). "Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators". Nat. Genet . 44 (7): 760–4.
doi :
10.1038/ng.2291 .
PMID
22634756 .
S2CID
54585617 .
^ Hurlstone AF, Olave IA, Barker N, van Noort M, Clevers H (May 2002).
"Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein" . Biochem. J . 364 (Pt 1): 255–64.
doi :
10.1042/bj3640255 .
PMC
1222568 .
PMID
11988099 .
^
a
b Inoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS, Tanese N (November 2002).
"Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors" . J. Biol. Chem . 277 (44): 41674–85.
doi :
10.1074/jbc.M205961200 .
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.
doi :
10.1016/S0959-437X(03)00022-4 .
PMID
12672490 .
Bonaldo MF, Lennon G, Soares MB (1997).
"Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806.
doi :
10.1101/gr.6.9.791 .
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.
doi :
10.1038/ng1196-285 .
PMID
8896557 .
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.
doi :
10.1074/jbc.273.46.30466 .
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.
doi :
10.1016/S1097-2765(00)80315-9 .
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.
doi :
10.1093/dnares/6.5.337 .
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.
Bibcode :
2000PNAS...9713015X .
doi :
10.1073/pnas.240208597 .
PMC
27170 .
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.
doi :
10.1074/jbc.M108702200 .
hdl :
2066/170683 .
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.
doi :
10.1042/bj3640255 .
PMC
1222568 .
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.
doi :
10.1074/jbc.M205961200 .
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.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
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.
doi :
10.1128/MCB.23.8.2942-2952.2003 .
PMC
152562 .
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.
Bibcode :
2003Natur.425..805M .
doi :
10.1038/nature02055 .
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.
doi :
10.1016/S0002-9440(10)63603-6 .
PMC
1892391 .
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.
doi :
10.1038/ng1285 .
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.
doi :
10.1038/ncb1086 .
PMID
14743216 .
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.
doi :
10.1093/nar/gkh277 .
PMC
390273 .
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.
doi :
10.1042/BJ20040524 .
PMC
1134073 .
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.
doi :
10.1101/gr.2334104 .
PMC
442148 .
PMID
15231748 .
External links
(1) Basic domains
(1.1) Basic
leucine zipper (
bZIP )(1.2) Basic helix-loop-helix (
bHLH )
Group A Group B Group C bHLH-
PAS Group D Group E Group F bHLH-COE
(1.3)
bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2)
Zinc finger DNA-binding domains
(2.1)
Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .