ARID1B

ARID1B
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	2CXY, 2EH9
식별자
에일리어스	ARID1B, 6A3-5, BAF250B, BRIGHT, DAN15, ELD/OSA1, MRD12, OSA2, P250R, CSS1, AT 리치 상호작용 도메인 1B, SMARCF2
외부 ID	OMIM : 614556 MGI : 1926129 HomoloGene : 32344 GenCard : ARID1B
유전자 위치(인간)
크르.	6번 염색체(인간)
끝.	157,210,779 bp
유전자 위치(마우스)
크르.	17번 염색체(쥐)
끝.	5,397,931 bp
RNA발현패턴
	상단 표시 위치:
	골수 세포; ; 상부 신경; ; 아킬레스건; ; 흉선; ; 혀 윗면; ; 정낭포; ; 신경절 융기; ; 자궁경부; ; 뇌량; ; 복부 피부;
	상단 표시 위치:
	손; ; 섬모체; ; 수채관; ; 자궁경부; ; 송과선; ; 이차 난모세포; ; 홍채; ; 발; ; 좌폐엽; ; 원형 피질;
	추가 참조 표현식 데이터
	없음
유전자 존재론
분자 함수	DNA결합; 전사공활성화제활성; 단백질 결합; DNA결합전사인자활성, RNA중합효소II 특이적;
셀룰러 컴포넌트	nBAF 착화체; 핵; 핵소체; 세포; 혈장막; 세포질; SWI/SNF 슈퍼 패밀리형 복합체; SWI/SNF 콤플렉스; 브라흐마 콤플렉스;
생물학적 과정	염색질 리모델링; 전사조절, DNA템플릿화; 전사, DNA 템플릿; 신경계의 발달; 뉴런-유도 시냅스 전달; 수상 척추 발달; 수상세포 수상돌기 집합체; 허혈에 대한 반응; 앤지오텐신에 대한 세포 반응; 크로마틴 조직; RNA중합효소II에 의한 전사조절;
	출처:아미고 / QuickGO
맞춤법
	57492
	239985
	ENSG000049618
	ENSMUSG000069729
	Q8NFD5
	E9Q4N7
	NM_017519; NM_001363725; NM_001371656; NM_001374820; NM_001374828
	NM_001085355
	NP_059989; NP_001350654; NP_001358585; NP_001361749; NP_001361757
	NP_001078824
	위키데이터
인간 보기/편집	마우스 표시/편집

AT 리치 인터랙티브 도메인 함유 단백질 1B는 ARID1B ^[5]유전자에 의해 인체 내에서 암호화되는 단백질이다.ARID1B는 인간 SWI/SNF 염색질 리모델링 복합체의 구성요소이다.

임상적 의의

ARID1B의 생식선 돌연변이는 관-시리스 ^[6]^[7]증후군과 관련이 있다.ARID1B의 체세포 돌연변이는 여러 가지 암 아형과 연관되어 있어 종양 억제 ^[8]^[9]^[10]^[11]유전자임을 시사한다.

상호 작용

ARID1B는 SMARCA4^[12]^[13] 및 SMARCA2와 ^[13]상호작용하는 것으로 나타났다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG000049618 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000069729 - 앙상블, 2017년 5월
^ "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.

추가 정보

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. 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. 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. 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.
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외부 링크

ARID1B+단백질+미국국립의학도서관 의학 과목 제목(MeSH)의 인간
UCSC Genome Browser의 인간 ARID1B 게놈 위치 및 ARID1B 유전자 상세 페이지.

이 기사에는 미국 국립 의학 도서관(미국 국립 의학 도서관)의 공공 도메인 텍스트가 포함되어 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG000049618 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000069729 - 앙상블, 2017년 5월

[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.

[entrez-5] "Entrez Gene: ARID1B AT rich interactive domain 1B (SWI1-like)".

[pmid22426308-6] 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.

[pmid22426309-7] 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.

[pmid23355908-8] 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.

[pmid23202128-9] 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.

[pmid22233809-10] 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.

[pmid22634756-11] 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.

[pmid11988099-12] 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.

[pmid12200431-13] 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.

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