SMARCB1

SMARCB1
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	5AJ1
식별자
에일리어스	SMARCB1, BAF47, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SVNTS1, Sfh1p, Snr1, HSNFS, CSS3/SWI
외부 ID	OMIM: 601607 MGI: 1328366 HomoloGene: 2310 GeneCard: SMARCB1
유전자 위치(인간)
크르.	22번 염색체(인간)
끝.	23,838,009 bp
유전자 위치(마우스)
크르.	10번 염색체(쥐)
끝.	75,757,451 bp
RNA발현패턴
	상단 표시 위치:
	신경절 융기; ; 자궁내막간질세포; ; 랑게르한스 섬; ; 부록; ; 뇌하수체 전엽; ; 자궁경관; ; 전전두피질; ; 우부신; ; 대상회; ; 평활근 조직;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	GO:0000980 RNA중합효소II 시스조절영역배열특이적 DNA결합; DNA결합; GO:0001187 RNA 중합효소I 코어 프로모터 배열 특이적 DNA 결합; GO:0001105 트랜스크립션코액티베이터 액티비티; p53 바인딩; Tat단백질결합; GO:0001948 단백질 결합; 뉴클레오좀DNA결합;
셀룰러 컴포넌트	핵소체; 핵염색체; 핵소체; 핵; 섬유 중심; 세포막내소기관; SWI/SNF 콤플렉스; npBAF 착화체; nBAF 착화체; 단백질 함유 복합체; 브라흐마 콤플렉스;
생물학적 과정	포도당 매개 신호 경로의 양성 조절; 염색질 리모델링; 전사조절, DNA템플릿화; DNA통합; 히스톤 H3-K9 아세틸화의 양성 조절; RNA중합효소II에 의한 전사조절; RNA 중합효소 I에 의한 핵소립자 대형 rRNA 전사의 양성 조절; DNA결합전사인자활성양성조절; 전사, DNA 템플릿; 신경계의 발달; 뉴클레오솜 분해; 히스톤 H4 아세틸화 양성 조절; 이중 가닥 DNA 중간체를 통한 단일 가닥 바이러스 RNA 복제; 세포 주기; 히스톤 H3-K9 트리메틸화의 음성 조절; 히스톤 H4-K16 아세틸화 조절; GO:0022415 바이러스 처리; 히스톤 H3-K9 디메틸화의 음성 조절; DNA복구; 바이러스 전사의 숙주에 의한 양성 조절; RNA중합효소II에 의한 전사의 양성 조절; 세포군 증식의 음성 조절; 세포 분화; RNA중합효소I선개시복합체조립체; 크로마틴 조직;
	출처:아미고 / QuickGO
맞춤법
	6598
	20587
	ENSG000099956; ENSG00000275837
	ENSMUSG000000902
	Q12824
	Q9Z0H3
	NM_001007468; NM_003073; NM_001317946; NM_001362877
	NM_001161853; NM_011418
	NP_001007469; NP_001304875; NP_003064; NP_001349806
	NP_001155325; NP_035548
	위키데이터
인간 보기/편집	마우스 표시/편집

크로마틴 서브패밀리 B의 SWI/SNF 관련 매트릭스 관련 액틴 의존성 조절기 1은 SMARCB1 ^[5]^[6]^[7]유전자에 의해 인체 내에서 부호화되는 단백질이다.

기능.

이 유전자에 의해 암호화된 단백질은 억제적인 크로마틴 구조를 완화시키는 복합체의 일부이며, 전사 기계가 그 목표물에 더 효과적으로 접근할 수 있게 한다.암호화된 핵단백질은 또한 HIV-1 인테그레이스의 DNA 결합 활성에 결합하고 강화시킬 수 있다.이 유전자는 종양 억제제로 밝혀졌으며 그 속의 돌연변이는 악성 횡문근 종양과 관련이 있다.이 ^[8]유전자에 대해 서로 다른 아이소폼을 코드하는 두 개의 전사 변형이 발견되었다.

상호 작용

SMARCB1은 다음과 상호작용하는 것으로 나타났습니다.

레퍼런스

^ ^a ^b ^c ENSG00000275837 GRCh38: 앙상블 릴리즈 89: ENSG00000099956, ENSG00000275837: Ensembl, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000000902 - 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.
^ Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (January 1995). "Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5". Science. 266 (5193): 2002–6. doi:10.1126/science.7801128. PMID 7801128.
^ ^a ^b Cheng SW, Davies KP, Yung E, Beltran RJ, Yu J, Kalpana GV (May 1999). "c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function". Nat Genet. 22 (1): 102–5. doi:10.1038/8811. PMID 10319872. S2CID 12945791.
^ Lee D, Sohn H, Kalpana GV, Choe J (June 1999). "Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA". Nature. 399 (6735): 487–91. Bibcode:1999Natur.399..487L. doi:10.1038/20966. PMID 10365963.
^ "Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1".
^ ^a ^b ^c ^d ^e ^f Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.
^ ^a ^b Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (February 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.
^ Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (June 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 (7): 905–17. doi:10.1016/s0092-8674(03)00436-7. PMID 12837248.
^ Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS, Wang W, Kashanchi F, Shiekhattar R (July 2000). "BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer". Cell. 102 (2): 257–65. doi:10.1016/s0092-8674(00)00030-1. PMID 10943845. S2CID 6500100.
^ ^a ^b ^c Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (September 1998). "A human RNA polymerase II complex containing factors that modify chromatin structure". Mol. Cell. Biol. 18 (9): 5355–63. doi:10.1128/MCB.18.9.5355. PMC 109120. PMID 9710619.
^ Lee D, Kim JW, Seo T, Hwang SG, Choi EJ, Choe J (June 2002). "SWI/SNF complex interacts with tumor suppressor p53 and is necessary for the activation of p53-mediated transcription". J. Biol. Chem. 277 (25): 22330–7. doi:10.1074/jbc.M111987200. PMID 11950834.
^ ^a ^b ^c ^d Sif S, Saurin AJ, Imbalzano AN, Kingston RE (March 2001). "Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes". Genes Dev. 15 (5): 603–18. doi:10.1101/gad.872801. PMC 312641. PMID 11238380.
^ ^a ^b ^c ^d Wu DY, Tkachuck DC, Roberson RS, Schubach WH (August 2002). "The human SNF5/INI1 protein facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity". J. Biol. Chem. 277 (31): 27706–15. doi:10.1074/jbc.M200955200. PMID 12016208.
^ Adler HT, Chinery R, Wu DY, Kussick SJ, Payne JM, Fornace AJ, Tkachuk DC (October 1999). "Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins". Mol. Cell. Biol. 19 (10): 7050–60. doi:10.1128/mcb.19.10.7050. PMC 84700. PMID 10490642.
^ ^a ^b 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.
^ Sullivan EK, Weirich CS, Guyon JR, Sif S, Kingston RE (September 2001). "Transcriptional activation domains of human heat shock factor 1 recruit human SWI/SNF". Mol. Cell. Biol. 21 (17): 5826–37. doi:10.1128/mcb.21.17.5826-5837.2001. PMC 87302. PMID 11486022.
^ Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu JM (November 2001). "Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex". Hum. Mol. Genet. 10 (23): 2651–60. doi:10.1093/hmg/10.23.2651. PMID 11726552.
^ Craig E, Zhang ZK, Davies KP, Kalpana GV (January 2002). "A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis". EMBO J. 21 (1–2): 31–42. doi:10.1093/emboj/21.1.31. PMC 125819. PMID 11782423.

추가 정보

Miller MD, Bushman FD (1995). "HIV integration. Ini1 for integration?". Curr. Biol. 5 (4): 368–70. doi:10.1016/S0960-9822(95)00074-1. PMID 7627549. S2CID 17647431.
Van Maele B, Debyser Z (2005). "HIV-1 integration: an interplay between HIV-1 integrase, cellular and viral proteins". AIDS Reviews. 7 (1): 26–43. PMID 15875659.
Van Maele B, Busschots K, Vandekerckhove L, Christ F, Debyser Z (2006). "Cellular co-factors of HIV-1 integration". Trends Biochem. Sci. 31 (2): 98–105. doi:10.1016/j.tibs.2005.12.002. PMID 16403635.
Judkins AR (2007). "Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology". Advances in Anatomic Pathology. 14 (5): 335–9. doi:10.1097/PAP.0b013e3180ca8b08. PMID 17717433. S2CID 27654280.
Muchardt C, Sardet C, Bourachot B, Onufryk C, Yaniv M (1995). "A human protein with homology to Saccharomyces cerevisiae SNF5 interacts with the potential helicase hbrm". Nucleic Acids Res. 23 (7): 1127–32. doi:10.1093/nar/23.7.1127. PMC 306820. PMID 7739891.
Wu DY, Kalpana GV, Goff SP, Schubach WH (1996). "Epstein-Barr virus nuclear protein 2 (EBNA2) binds to a component of the human SNF-SWI complex, hSNF5/Ini1". J. Virol. 70 (9): 6020–8. doi:10.1128/JVI.70.9.6020-6028.1996. PMC 190622. PMID 8709224.
Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.
Morozov A, Yung E, Kalpana GV (1998). "Structure-function analysis of integrase interactor 1/hSNF5L1 reveals differential properties of two repeat motifs present in the highly conserved region". Proc. Natl. Acad. Sci. U.S.A. 95 (3): 1120–5. Bibcode:1998PNAS...95.1120M. doi:10.1073/pnas.95.3.1120. PMC 18693. PMID 9448295.
Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O (1998). "Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer". Nature. 394 (6689): 203–6. Bibcode:1998Natur.394..203V. doi:10.1038/28212. PMID 9671307. S2CID 6019090.
Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (1998). "A human RNA polymerase II complex containing factors that modify chromatin structure". Mol. Cell. Biol. 18 (9): 5355–63. doi:10.1128/MCB.18.9.5355. PMC 109120. PMID 9710619.
Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999). "Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors". Cancer Res. 59 (1): 74–9. PMID 9892189.
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.
Bruder CE, Dumanski JP, Kedra D (1999). "The mouse ortholog of the human SMARCB1 gene encodes two splice forms". Biochem. Biophys. Res. Commun. 257 (3): 886–90. doi:10.1006/bbrc.1999.0563. PMID 10208879.
Adler HT, Chinery R, Wu DY, Kussick SJ, Payne JM, Fornace AJ, Tkachuk DC (2000). "Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins". Mol. Cell. Biol. 19 (10): 7050–60. doi:10.1128/mcb.19.10.7050. PMC 84700. PMID 10490642.
Sévenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O (1999). "Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers". Am. J. Hum. Genet. 65 (5): 1342–8. doi:10.1086/302639. PMC 1288286. PMID 10521299.
Kowenz-Leutz E, Leutz A (2000). "A C/EBP beta isoform recruits the SWI/SNF complex to activate myeloid genes". Mol. Cell. 4 (5): 735–43. doi:10.1016/S1097-2765(00)80384-6. PMID 10619021.

외부 링크

팩터북 이니원

[refGRCh38Ensembl-1] ENSG00000275837 GRCh38: 앙상블 릴리즈 89: ENSG00000099956, ENSG00000275837: Ensembl, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000000902 - 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.

[pmid7801128-5] Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (January 1995). "Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5". Science. 266 (5193): 2002–6. doi:10.1126/science.7801128. PMID 7801128.

[pmid10319872-6] Cheng SW, Davies KP, Yung E, Beltran RJ, Yu J, Kalpana GV (May 1999). "c-MYC interacts with INI1/hSNF5 and requires the SWI/SNF complex for transactivation function". Nat Genet. 22 (1): 102–5. doi:10.1038/8811. PMID 10319872. S2CID 12945791.

[pmid10365963-7] Lee D, Sohn H, Kalpana GV, Choe J (June 1999). "Interaction of E1 and hSNF5 proteins stimulates replication of human papillomavirus DNA". Nature. 399 (6735): 487–91. Bibcode:1999Natur.399..487L. doi:10.1038/20966. PMID 10365963.

[8] "Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1".

[pmid8895581-9] ^ ^a ^b ^c ^d ^e ^f Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC 452280. PMID 8895581.

[pmid11734557-10] Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (February 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.

[pmid12837248-11] Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (June 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 (7): 905–17. doi:10.1016/s0092-8674(03)00436-7. PMID 12837248.

[pmid10943845-12] Bochar DA, Wang L, Beniya H, Kinev A, Xue Y, Lane WS, Wang W, Kashanchi F, Shiekhattar R (July 2000). "BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer". Cell. 102 (2): 257–65. doi:10.1016/s0092-8674(00)00030-1. PMID 10943845. S2CID 6500100.

[pmid9710619-13] Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (September 1998). "A human RNA polymerase II complex containing factors that modify chromatin structure". Mol. Cell. Biol. 18 (9): 5355–63. doi:10.1128/MCB.18.9.5355. PMC 109120. PMID 9710619.

[pmid11950834-14] Lee D, Kim JW, Seo T, Hwang SG, Choi EJ, Choe J (June 2002). "SWI/SNF complex interacts with tumor suppressor p53 and is necessary for the activation of p53-mediated transcription". J. Biol. Chem. 277 (25): 22330–7. doi:10.1074/jbc.M111987200. PMID 11950834.

[pmid11238380-15] Sif S, Saurin AJ, Imbalzano AN, Kingston RE (March 2001). "Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes". Genes Dev. 15 (5): 603–18. doi:10.1101/gad.872801. PMC 312641. PMID 11238380.

[pmid12016208-16] Wu DY, Tkachuck DC, Roberson RS, Schubach WH (August 2002). "The human SNF5/INI1 protein facilitates the function of the growth arrest and DNA damage-inducible protein (GADD34) and modulates GADD34-bound protein phosphatase-1 activity". J. Biol. Chem. 277 (31): 27706–15. doi:10.1074/jbc.M200955200. PMID 12016208.

[pmid10490642-17] Adler HT, Chinery R, Wu DY, Kussick SJ, Payne JM, Fornace AJ, Tkachuk DC (October 1999). "Leukemic HRX fusion proteins inhibit GADD34-induced apoptosis and associate with the GADD34 and hSNF5/INI1 proteins". Mol. Cell. Biol. 19 (10): 7050–60. doi:10.1128/mcb.19.10.7050. PMC 84700. PMID 10490642.

[pmid9845365-18] 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.

[pmid11486022-19] Sullivan EK, Weirich CS, Guyon JR, Sif S, Kingston RE (September 2001). "Transcriptional activation domains of human heat shock factor 1 recruit human SWI/SNF". Mol. Cell. Biol. 21 (17): 5826–37. doi:10.1128/mcb.21.17.5826-5837.2001. PMC 87302. PMID 11486022.

[pmid11726552-20] Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu JM (November 2001). "Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex". Hum. Mol. Genet. 10 (23): 2651–60. doi:10.1093/hmg/10.23.2651. PMID 11726552.

[pmid11782423-21] Craig E, Zhang ZK, Davies KP, Kalpana GV (January 2002). "A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis". EMBO J. 21 (1–2): 31–42. doi:10.1093/emboj/21.1.31. PMC 125819. PMID 11782423.

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Search

SMARCB1

네임스페이스

더

목차

기능.

상호 작용

레퍼런스

추가 정보

외부 링크