KMT2C

KMT2C
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	2YSM, 2YUK, 3UVL, 4ERY, 5F59, 5F6K
식별자
에일리어스	KMT2C, HALR, MLL3, 리신메틸전달효소2C, KLEFS2
외부 ID	OMIM: 606833 MGI: 2444959 HomoloGene: 46480 GenCard: KMT2C
유전자 위치(인간)
크르.	7번 염색체(인간)
끝.	152,436,644 bp
RNA발현패턴
	상단 표시 위치:
	난모세포; ; 부고환 카푸트; ; 췌상피세포; ; 부고환 말뭉치; ; 아킬레스건; ; 상부 신경; ; 골수 세포; ; 정낭포; ; 이차 난모세포; ; 뇌량;
	추가 참조 표현식 데이터
	없음
유전자 존재론
분자 함수	메틸전달효소활성; 트랜스페라아제 활성; DNA결합; GO:0001948 단백질 결합; 히스톤메틸전달효소활성(H3-K4특이적); 금속 이온 결합; 아실전달효소활성; 히스톤리신N-메틸전달효소활성; RNA결합; GO:0001105 트랜스크립션코액티베이터 액티비티; 히스톤 결합;
셀룰러 컴포넌트	MLL3/4 콤플렉스; 핵; 핵소체; 히스톤메틸전달효소복합체;
생물학적 과정	히스톤리신메틸화; 메틸화; 전사조절, DNA템플릿화; 전사, DNA 템플릿; 히스톤H3-K4메틸화; 거핵구 분화 조절; 크로마틴 조직; RNA중합효소II에 의한 전사의 양성 조절;
	출처:아미고 / QuickGO
맞춤법
	58508
	231051
	ENSG000055609
	없음
	Q8NEZ4
	Q8BRH4
	NM_021230; NM_170606
	NM_001081383; NM_177283
	NP_733751
	없음
	위키데이터
인간 보기/편집	마우스 표시/편집

리신 N-메틸전달효소 2C(KMT2C)는 골수/림프체 또는 혼합계 백혈병 단백질 3(MLL3)로도 알려져 있으며, 인체에서 KMT2C ^[4]^[5]유전자에 의해 암호화되는 효소이다.

기능.

이 유전자는 골수/림프상 또는 혼합계 백혈병(MLL) 계열의 일원으로 AT-훅 DNA 결합 도메인, DHHC형 아연 핑거, 6개의 PHD형 아연 핑거, SET 도메인, RING형 아연 핑거로 핵단백질을 암호화한다.이 단백질은 히스톤 메틸화 활성을 가지며 전사 공활성화에 관여하는 ASC-2/NCOA6 복합체(ASCOM)의 구성원이다.다른 Isoform을 인코딩하는 대체 전사 스플라이스 변형이 ^[5]특징지어졌습니다.

상호 작용

MLL3는 NCOA6^[6] 및 RBBP5와 ^[6]상호작용하는 것으로 나타났습니다.

임상적 의의

KMT2C 유전자의 돌연변이는 2012년에 ^[7]처음 기술된 신경발달 장애인 클리프스트라 증후군-2를 일으킨다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG000055609 - 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.
^ Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O (Apr 2000). "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (2): 143–50. doi:10.1093/dnares/7.2.143. PMID 10819331.
^ ^a ^b "Entrez Gene: MLL3 myeloid/lymphoid or mixed-lineage leukemia 3".
^ ^a ^b Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, Kwak E, Barlev NA, Berger SL, Chow VT, Roeder RG, Azorsa DO, Meltzer PS, Suh PG, Song EJ, Lee KJ, Lee YC, Lee JW (Jan 2003). "Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins". Molecular and Cellular Biology. 23 (1): 140–9. doi:10.1128/MCB.23.1.140-149.2003. PMC 140670. PMID 12482968.
^ Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H (July 2012). "Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability". American Journal of Human Genetics. 91 (1): 73–82. doi:10.1016/j.ajhg.2012.05.003. PMC 3397275. PMID 22726846.

추가 정보

Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (Jun 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Research. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
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.
Sanger Centre, The; Washington University Genome Sequencing Cente, The (Nov 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Tan YC, Chow VT (2002). "Novel human HALR (MLL3) gene encodes a protein homologous to ALR and to ALL-1 involved in leukemia, and maps to chromosome 7q36 associated with leukemia and developmental defects". Cancer Detection and Prevention. 25 (5): 454–69. PMID 11718452.
Ruault M, Brun ME, Ventura M, Roizès G, De Sario A (Feb 2002). "MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia". Gene. 284 (1–2): 73–81. doi:10.1016/S0378-1119(02)00392-X. PMID 11891048.
Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, Kwak E, Barlev NA, Berger SL, Chow VT, Roeder RG, Azorsa DO, Meltzer PS, Suh PG, Song EJ, Lee KJ, Lee YC, Lee JW (Jan 2003). "Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins". Molecular and Cellular Biology. 23 (1): 140–9. doi:10.1128/MCB.23.1.140-149.2003. PMC 140670. PMID 12482968.
Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (Sep 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
Fukuda K, Sakakura C, Miyagawa K, Kuriu Y, Kin S, Nakase Y, Hagiwara A, Mitsufuji S, Okazaki Y, Hayashizaki Y, Yamagishi H (Oct 2004). "Differential gene expression profiles of radioresistant oesophageal cancer cell lines established by continuous fractionated irradiation". British Journal of Cancer. 91 (8): 1543–50. doi:10.1038/sj.bjc.6602187. PMC 2409931. PMID 15365572.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Kim SC, Sprung R, Chen Y, Xu Y, Ball H, Pei J, Cheng T, Kho Y, Xiao H, Xiao L, Grishin NV, White M, Yang XJ, Zhao Y (Aug 2006). "Substrate and functional diversity of lysine acetylation revealed by a proteomics survey". Molecular Cell. 23 (4): 607–18. doi:10.1016/j.molcel.2006.06.026. PMID 16916647.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, Guszczynski T, Dressler GR, Copeland TD, Kalkum M, Ge K (Jul 2007). "PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex". The Journal of Biological Chemistry. 282 (28): 20395–406. doi:10.1074/jbc.M701574200. PMC 2729684. PMID 17500065.
Ahn CH, Yoo NJ, Lee JW, Lee SH, Lee SH (Jul 2007). "Absence of MLL3 mutations in colorectal carcinomas of Korean patients". APMIS. 115 (7): 859–60. doi:10.1111/j.1600-0463.2007.apm_696.x. PMID 17614854. S2CID 2468083.

외부 링크

MLL3+단백질+미국 국립의학도서관의 의학 주제 제목(MeSH)

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

이 단백질 관련 기사는 스텁입니다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG000055609 - 앙상블, 2017년 5월

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10819331-4] Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O (Apr 2000). "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (2): 143–50. doi:10.1093/dnares/7.2.143. PMID 10819331.

[entrez-5] "Entrez Gene: MLL3 myeloid/lymphoid or mixed-lineage leukemia 3".

[pmid12482968-6] Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, Kwak E, Barlev NA, Berger SL, Chow VT, Roeder RG, Azorsa DO, Meltzer PS, Suh PG, Song EJ, Lee KJ, Lee YC, Lee JW (Jan 2003). "Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins". Molecular and Cellular Biology. 23 (1): 140–9. doi:10.1128/MCB.23.1.140-149.2003. PMC 140670. PMID 12482968.

[pmid22726846-7] Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H (July 2012). "Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability". American Journal of Human Genetics. 91 (1): 73–82. doi:10.1016/j.ajhg.2012.05.003. PMC 3397275. PMID 22726846.

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