CHD3

CHD3
식별자
에일리어스	CHD3, Mi-2a, Mi2-ALPA, ZFH, 크로모도메인헬리카제DNA결합단백질3, SNIBCPS
외부 ID	OMIM : 602120 MGI : 1344395 HomoloGene : 62693 GenCard : CHD3
유전자 위치(인간)
크르.	17번 염색체(인간)
끝.	7,912,760 bp
유전자 위치(마우스)
크르.	11번 염색체(쥐)
끝.	69,260,232 bp
RNA발현패턴
	상단 표시 위치:
	신경절 융기; ; 우측 자궁관; ; 자궁경관; ; 상부 신경; ; 위점막; ; 좌측 자궁관; ; 뇌하수체 전엽; ; 갑상선 우엽; ; 갑상선 좌엽; ; 자궁내막간질세포;
	추가 참조 표현식 데이터
	; ;
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	금속 이온 결합; 뉴클레오티드 결합; GO:0004003 DNA 헬리케이스 활성; GO:0008026 헬리케이스 액티비티; 가수분해효소활성; ATP 결합; GO:0001948 단백질 결합; DNA결합; 히스톤탈아세틸화효소활성; RNA결합; 아연 이온 결합; ATP효소활성; GO:0033676 이중사슬 DNA 헬리케이스 활성;
셀룰러 컴포넌트	핵소체; 핵소체; 세포질; 핵; NuRD 복합체; 중심체; 세포골격; 미소관 조직 센터;
생물학적 과정	전사, DNA 템플릿; 크로마틴 조립 또는 분해; GO:0043146 스핀들 구성; RNA중합효소II에 의한 전사조절; 전사조절, DNA템플릿화; 크로마틴 조직; 히스톤탈아세틸화; DNA쌍꺼풀림; p53급 매개자에 의한 신호 전달 조절; 중심체 사이클;
	출처:아미고 / QuickGO
맞춤법
	1107
	216848
	ENSG00000170004
	ENSMUSG000018474
	Q12873
	없음
	NM_001005271; NM_001005273; NM_005852; NM_001272
	NM_146019
	NP_001005271; NP_001005273; NP_005843
	없음
	위키데이터
인간 보기/편집	마우스 표시/편집

크로모도메인-헬리카아제-DNA결합단백질3은 CHD3유전자에 ^[5]^[6]^[7]의해 인체 내에서 코드되는 효소이다.

기능.

이 유전자는 염색체(크로마틴 조직 수식제) 도메인과 SNF2 관련 헬리케이스/A의 존재로 특징지어지는 단백질의 CHD 패밀리 멤버를 코드한다.TPase 도메인이 단백질은 히스톤을 탈아세틸화함으로써 크로마틴의 리모델링에 참여하는 Mi-2/NuRD 복합체로 불리는 히스톤 탈아세틸화효소 복합체의 구성 요소 중 하나이다.염색질 리모델링은 전사를 포함한 많은 과정에서 필수적이다.이 단백질에 대한 자가항체는 피부근염 환자의 하위 집합에서 발견된다.서로 다른 Isoform을 코드하는 세 개의 대체 스플라이스된 트랜스크립트가 설명되었다.^[7]

CHD3의 돌연변이는 대뇌증과 언어 ^[8]장애와 함께 신경 발달 증후군(Snijder-Blok Campeau Syndrome)을 일으킨다.

상호 작용

CHD3는 다음과 상호작용하는 것으로 나타났습니다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000170004 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000018474 - 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.
^ Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS (Oct 1997). "Characterization of the CHD family of proteins". Proceedings of the National Academy of Sciences of the United States of America. 94 (21): 11472–7. doi:10.1073/pnas.94.21.11472. PMC 23509. PMID 9326634.
^ Ge Q, Nilasena DS, O'Brien CA, Frank MB, Targoff IN (Oct 1995). "Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen". The Journal of Clinical Investigation. 96 (4): 1730–7. doi:10.1172/JCI118218. PMC 185809. PMID 7560064.
^ ^a ^b "Entrez Gene: CHD3 chromodomain helicase DNA binding protein 3".
^ Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, et al. (November 2018). "CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language". Nature Communications. 9 (1): 4619. doi:10.1038/s41467-018-06014-6. PMC 6218476. PMID 30397230.
^ ^a ^b Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (Oct 1998). "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature. 395 (6705): 917–21. doi:10.1038/27699. PMID 9804427. S2CID 4355885.
^ Kuzmichev A, Zhang Y, Erdjument-Bromage H, Tempst P, Reinberg D (Feb 2002). "Role of the Sin3-histone deacetylase complex in growth regulation by the candidate tumor suppressor p33(ING1)". Molecular and Cellular Biology. 22 (3): 835–48. doi:10.1128/mcb.22.3.835-848.2002. PMC 133546. PMID 11784859.
^ Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes". The Journal of Biological Chemistry. 278 (9): 7234–9. doi:10.1074/jbc.M208992200. PMID 12493763.
^ Hakimi MA, Bochar DA, Schmiesing JA, Dong Y, Barak OG, Speicher DW, Yokomori K, Shiekhattar R (Aug 2002). "A chromatin remodelling complex that loads cohesin onto human chromosomes". Nature. 418 (6901): 994–8. doi:10.1038/nature01024. PMID 12198550. S2CID 4344470.
^ Lemos TA, Passos DO, Nery FC, Kobarg J (Jan 2003). "Characterization of a new family of proteins that interact with the C-terminal region of the chromatin-remodeling factor CHD-3". FEBS Letters. 533 (1–3): 14–20. doi:10.1016/s0014-5793(02)03737-7. PMID 12505151. S2CID 41197943.
^ Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.

외부 링크

UCSC Genome Browser의 인간 CHD3 게놈 위치 및 CHD3 유전자 세부 정보 페이지.

추가 정보

Bowen NJ, Fujita N, Kajita M, Wade PA (Mar 2004). "Mi-2/NuRD: multiple complexes for many purposes". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1677 (1–3): 52–7. doi:10.1016/j.bbaexp.2003.10.010. PMID 15020045.
Gieser L, Swaroop A (Jul 1992). "Expressed sequence tags and chromosomal localization of cDNA clones from a subtracted retinal pigment epithelium library" (PDF). Genomics. 13 (3): 873–6. doi:10.1016/0888-7543(92)90173-P. hdl:2027.42/29973. PMID 1639417.
Seelig HP, Moosbrugger I, Ehrfeld H, Fink T, Renz M, Genth E (Oct 1995). "The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation". Arthritis and Rheumatism. 38 (10): 1389–99. doi:10.1002/art.1780381006. PMID 7575689.
Seelig HP, Renz M, Targoff IN, Ge Q, Frank MB (Oct 1996). "Two forms of the major antigenic protein of the dermatomyositis-specific Mi-2 autoantigen". Arthritis and Rheumatism. 39 (10): 1769–71. doi:10.1002/art.1780391029. PMID 8843877.
Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Aubry F, Mattéi MG, Galibert F (Jun 1998). "Identification of a human 17p-located cDNA encoding a protein of the Snf2-like helicase family". European Journal of Biochemistry. 254 (3): 558–64. doi:10.1046/j.1432-1327.1998.2540558.x. PMID 9688266.
Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (Oct 1998). "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature. 395 (6705): 917–21. doi:10.1038/27699. PMID 9804427. S2CID 4355885.
Kleiderlein JJ, Nisson PE, Jessee J, Li WB, Becker KG, Derby ML, Ross CA, Margolis RL (Dec 1998). "CCG repeats in cDNAs from human brain". Human Genetics. 103 (6): 666–73. doi:10.1007/s004390050889. PMID 9921901. S2CID 23696667.
Kim J, Sif S, Jones B, Jackson A, Koipally J, Heller E, Winandy S, Viel A, Sawyer A, Ikeda T, Kingston R, Georgopoulos K (Mar 1999). "Ikaros DNA-binding proteins direct formation of chromatin remodeling complexes in lymphocytes". Immunity. 10 (3): 345–55. doi:10.1016/S1074-7613(00)80034-5. PMID 10204490.
Wade PA, Gegonne A, Jones PL, Ballestar E, Aubry F, Wolffe AP (Sep 1999). "Mi-2 complex couples DNA methylation to chromatin remodelling and histone deacetylation". Nature Genetics. 23 (1): 62–6. doi:10.1038/12664. PMID 10471500. S2CID 52868103.
Cousin P, Billotte J, Chaubert P, Shaw P (Jan 2000). "Physical map of 17p13 and the genes adjacent to p53". Genomics. 63 (1): 60–8. doi:10.1006/geno.1999.6062. PMID 10662545.
Minty A, Dumont X, Kaghad M, Caput D (Nov 2000). "Covalent modification of p73alpha by SUMO-1. Two-hybrid screening with p73 identifies novel SUMO-1-interacting proteins and a SUMO-1 interaction motif". The Journal of Biological Chemistry. 275 (46): 36316–23. doi:10.1074/jbc.M004293200. PMID 10961991.
Schultz DC, Friedman JR, Rauscher FJ (Feb 2001). "Targeting histone deacetylase complexes via KRAB-zinc finger proteins: the PHD and bromodomains of KAP-1 form a cooperative unit that recruits a novel isoform of the Mi-2alpha subunit of NuRD". Genes & Development. 15 (4): 428–43. doi:10.1101/gad.869501. PMC 312636. PMID 11230151.
Yasui D, Miyano M, Cai S, Varga-Weisz P, Kohwi-Shigematsu T (Oct 2002). "SATB1 targets chromatin remodelling to regulate genes over long distances". Nature. 419 (6907): 641–5. doi:10.1038/nature01084. PMID 12374985. S2CID 25822700.
Lemos TA, Passos DO, Nery FC, Kobarg J (Jan 2003). "Characterization of a new family of proteins that interact with the C-terminal region of the chromatin-remodeling factor CHD-3". FEBS Letters. 533 (1–3): 14–20. doi:10.1016/S0014-5793(02)03737-7. PMID 12505151. S2CID 41197943.
Fujita N, Jaye DL, Kajita M, Geigerman C, Moreno CS, Wade PA (Apr 2003). "MTA3, a Mi-2/NuRD complex subunit, regulates an invasive growth pathway in breast cancer". Cell. 113 (2): 207–19. doi:10.1016/S0092-8674(03)00234-4. PMID 12705869. S2CID 5773916.
Lee BH, Yoshimatsu K, Maeda A, Ochiai K, Morimatsu M, Araki K, Ogino M, Morikawa S, Arikawa J (Dec 2003). "Association of the nucleocapsid protein of the Seoul and Hantaan hantaviruses with small ubiquitin-like modifier-1-related molecules". Virus Research. 98 (1): 83–91. doi:10.1016/j.virusres.2003.09.001. PMID 14609633.

인간 염색체 17번 유전자에 대한 이 기사는 짧은 글이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000170004 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000018474 - 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.

[pmid9326634-5] Woodage T, Basrai MA, Baxevanis AD, Hieter P, Collins FS (Oct 1997). "Characterization of the CHD family of proteins". Proceedings of the National Academy of Sciences of the United States of America. 94 (21): 11472–7. doi:10.1073/pnas.94.21.11472. PMC 23509. PMID 9326634.

[pmid7560064-6] Ge Q, Nilasena DS, O'Brien CA, Frank MB, Targoff IN (Oct 1995). "Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen". The Journal of Clinical Investigation. 96 (4): 1730–7. doi:10.1172/JCI118218. PMC 185809. PMID 7560064.

[entrez-7] "Entrez Gene: CHD3 chromodomain helicase DNA binding protein 3".

[8] Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, et al. (November 2018). "CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language". Nature Communications. 9 (1): 4619. doi:10.1038/s41467-018-06014-6. PMC 6218476. PMID 30397230.

[pmid9804427-9] Tong JK, Hassig CA, Schnitzler GR, Kingston RE, Schreiber SL (Oct 1998). "Chromatin deacetylation by an ATP-dependent nucleosome remodelling complex". Nature. 395 (6705): 917–21. doi:10.1038/27699. PMID 9804427. S2CID 4355885.

[pmid11784859-10] Kuzmichev A, Zhang Y, Erdjument-Bromage H, Tempst P, Reinberg D (Feb 2002). "Role of the Sin3-histone deacetylase complex in growth regulation by the candidate tumor suppressor p33(ING1)". Molecular and Cellular Biology. 22 (3): 835–48. doi:10.1128/mcb.22.3.835-848.2002. PMC 133546. PMID 11784859.

[pmid12493763-11] Hakimi MA, Dong Y, Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes". The Journal of Biological Chemistry. 278 (9): 7234–9. doi:10.1074/jbc.M208992200. PMID 12493763.

[pmid12198550-12] Hakimi MA, Bochar DA, Schmiesing JA, Dong Y, Barak OG, Speicher DW, Yokomori K, Shiekhattar R (Aug 2002). "A chromatin remodelling complex that loads cohesin onto human chromosomes". Nature. 418 (6901): 994–8. doi:10.1038/nature01024. PMID 12198550. S2CID 4344470.

[pmid12505151-13] Lemos TA, Passos DO, Nery FC, Kobarg J (Jan 2003). "Characterization of a new family of proteins that interact with the C-terminal region of the chromatin-remodeling factor CHD-3". FEBS Letters. 533 (1–3): 14–20. doi:10.1016/s0014-5793(02)03737-7. PMID 12505151. S2CID 41197943.

[pmid16169070-14] Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.

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CHD3

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기능.

상호 작용

레퍼런스

외부 링크

추가 정보