MEF2C
MEF2C
MADS 박스전사인자2라고도 불리는 근구특이적 증강인자2C, 폴리펩타이드C는 MEF2C [4][5]유전자에 의해 인체 내에서 암호화되는 단백질이다.MEF2C는 Mef2 [6][7]패밀리의 전사 인자입니다.
유전체학
이 유전자는 마이너스(크릭) 가닥의 5q14.3에 위치하며 길이는 200,723개이다.암호화된 단백질은 예측 분자량이 51.221킬로달톤인 473개의 아미노산을 가지고 있습니다.세 가지 동형식이 식별되었습니다.세린-59 및 세린-396에 대한 인산화, 리신-391에 대한 서모일화, 리신-4에 대한 아세틸화 및 단백질 분해 분해 분열을 포함한 몇 가지 번역 후 변형이 확인되었다.
상호 작용
MEF2C는 다음과 상호작용하는 것으로 나타났습니다.
- SETD1A
생물학적 의의
이 유전자는 심장 형태 형성, 근형성과 혈관 발달에 관여한다.또한 신경 생성과 피질 구조의 발달에도 관여할 수 있습니다.Mef2c 유전자의 기능적 복사가 없는 쥐는 태어나기 전에 죽고 심장과 혈관계에 [15]이상이 있다.온코미R, MIRN21의 타겟 중 하나입니다.
인간에서 이 유전자의 돌연변이는 유아기, 저혈압, 비정상적인 EEG, 간질, 언어 결핍, 자폐 행동, 브루시즘, 경미한 몰프 뇌전증 동안 관찰되는 심각한 정신 운동 장애, 주기적 떨림 및 비정상적인 운동 패턴으로 특징지어지는 상염색체 우성 정신 지체 20(MRD20)[16]을 초래한다.히크 특징, 뇌량의 가벼운 얇음 및 후두엽의[17] 백질 골수화 지연
MEF2C 결합 부위는 SNP rs630923의 작은 대립 유전자와 관련되며, 다발성 경화증의 위험과 관련이 있으며, 활성화 중 B세포에서 감소된 CXCR5 유전자 프로모터 활성을 담당하며, 이는 자가면역반응 감소를 초래할 수 있다.
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레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG000081189 - 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.
- ^ Leifer D, Krainc D, Yu YT, McDermott J, Breitbart RE, Heng J, Neve RL, Kosofsky B, Nadal-Ginard B, Lipton SA (Feb 1993). "MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex". Proceedings of the National Academy of Sciences of the United States of America. 90 (4): 1546–50. Bibcode:1993PNAS...90.1546L. doi:10.1073/pnas.90.4.1546. PMC 45911. PMID 7679508.
- ^ McDermott JC, Cardoso MC, Yu YT, Andres V, Leifer D, Krainc D, Lipton SA, Nadal-Ginard B (Apr 1993). "hMEF2C gene encodes skeletal muscle- and brain-specific transcription factors". Molecular and Cellular Biology. 13 (4): 2564–77. doi:10.1128/mcb.13.4.2564. PMC 359588. PMID 8455629.
- ^ Molkentin JD, Black BL, Martin JF, Olson EN (Jun 1996). "Mutational analysis of the DNA binding, dimerization, and transcriptional activation domains of MEF2C". Molecular and Cellular Biology. 16 (6): 2627–36. doi:10.1128/mcb.16.6.2627. PMC 231253. PMID 8649370.
- ^ "Entrez Gene: MEF2C myocyte enhancer factor 2C".
- ^ Sartorelli V, Huang J, Hamamori Y, Kedes L (Feb 1997). "Molecular mechanisms of myogenic coactivation by p300: direct interaction with the activation domain of MyoD and with the MADS box of MEF2C". Molecular and Cellular Biology. 17 (2): 1010–26. doi:10.1128/mcb.17.2.1010. PMC 231826. PMID 9001254.
- ^ Wang AH, Bertos NR, Vezmar M, Pelletier N, Crosato M, Heng HH, Th'ng J, Han J, Yang XJ (Nov 1999). "HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor". Molecular and Cellular Biology. 19 (11): 7816–27. doi:10.1128/mcb.19.11.7816. PMC 84849. PMID 10523670.
- ^ Wang AH, Yang XJ (Sep 2001). "Histone deacetylase 4 possesses intrinsic nuclear import and export signals". Molecular and Cellular Biology. 21 (17): 5992–6005. doi:10.1128/MCB.21.17.5992-6005.2001. PMC 87317. PMID 11486037.
- ^ Yang CC, Ornatsky OI, McDermott JC, Cruz TF, Prody CA (Oct 1998). "Interaction of myocyte enhancer factor 2 (MEF2) with a mitogen-activated protein kinase, ERK5/BMK1". Nucleic Acids Research. 26 (20): 4771–7. doi:10.1093/nar/26.20.4771. PMC 147902. PMID 9753748.
- ^ Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (Sep 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochemical and Biophysical Research Communications. 287 (2): 493–500. doi:10.1006/bbrc.2001.5589. PMID 11554755.
- ^ Krainc D, Bai G, Okamoto S, Carles M, Kusiak JW, Brent RN, Lipton SA (Oct 1998). "Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1". The Journal of Biological Chemistry. 273 (40): 26218–24. doi:10.1074/jbc.273.40.26218. PMID 9748305.
- ^ Maeda T, Gupta MP, Stewart AF (Jun 2002). "TEF-1 and MEF2 transcription factors interact to regulate muscle-specific promoters". Biochemical and Biophysical Research Communications. 294 (4): 791–7. doi:10.1016/S0006-291X(02)00556-9. PMID 12061776.
- ^ Bi W, Drake CJ, Schwarz JJ (Jul 1999). "The transcription factor MEF2C-null mouse exhibits complex vascular malformations and reduced cardiac expression of angiopoietin 1 and VEGF". Developmental Biology. 211 (2): 255–67. doi:10.1006/dbio.1999.9307. PMID 10395786.
- ^ 온라인 Mendelian In Man (OMIM) : 613443
- ^ Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P (Jul 2010). "Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C". American Journal of Medical Genetics Part B. 153B (5): 1042–51. doi:10.1002/ajmg.b.31071. PMID 20333642. S2CID 3895117.
- ^ Mitkin NA, Muratova AM, Schwartz AM, Kuprash DV (Nov 2016). "The A Allele of the Single-Nucleotide Polymorphism rs630923 Creates a Binding Site for MEF2C Resulting in Reduced CXCR5 Promoter Activity in B-Cell Lymphoblastic Cell Lines". Front. Immunol. 7 (515): 515. doi:10.3389/fimmu.2016.00515. PMC 5112242. PMID 27909439.
추가 정보
- Leifer D, Krainc D, Yu YT, McDermott J, Breitbart RE, Heng J, Neve RL, Kosofsky B, Nadal-Ginard B, Lipton SA (Feb 1993). "MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex". Proceedings of the National Academy of Sciences of the United States of America. 90 (4): 1546–50. Bibcode:1993PNAS...90.1546L. doi:10.1073/pnas.90.4.1546. PMC 45911. PMID 7679508.
- Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL (Oct 1995). "Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23". Genomics. 29 (3): 704–11. doi:10.1006/geno.1995.9007. PMID 8575763.
- Krainc D, Haas M, Ward DC, Lipton SA, Bruns G, Leifer D (Oct 1995). "Assignment of human myocyte-specific enhancer binding factor 2C (hMEF2C) to human chromosome 5q14 and evidence that MEF2C is evolutionarily conserved". Genomics. 29 (3): 809–11. doi:10.1006/geno.1995.9927. PMID 8575784.
- Molkentin JD, Li L, Olson EN (Jul 1996). "Phosphorylation of the MADS-Box transcription factor MEF2C enhances its DNA binding activity". The Journal of Biological Chemistry. 271 (29): 17199–204. doi:10.1074/jbc.271.29.17199. PMID 8663403.
- Black BL, Ligon KL, Zhang Y, Olson EN (Oct 1996). "Cooperative transcriptional activation by the neurogenic basic helix-loop-helix protein MASH1 and members of the myocyte enhancer factor-2 (MEF2) family". The Journal of Biological Chemistry. 271 (43): 26659–63. doi:10.1074/jbc.271.43.26659. PMID 8900141.
- Gradwohl G, Fode C, Guillemot F (Nov 1996). "Restricted expression of a novel murine atonal-related bHLH protein in undifferentiated neural precursors". Developmental Biology. 180 (1): 227–41. doi:10.1006/dbio.1996.0297. PMID 8948587.
- Sartorelli V, Huang J, Hamamori Y, Kedes L (Feb 1997). "Molecular mechanisms of myogenic coactivation by p300: direct interaction with the activation domain of MyoD and with the MADS box of MEF2C". Molecular and Cellular Biology. 17 (2): 1010–26. doi:10.1128/mcb.17.2.1010. PMC 231826. PMID 9001254.
- Han J, Jiang Y, Li Z, Kravchenko VV, Ulevitch RJ (Mar 1997). "Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation". Nature. 386 (6622): 296–9. Bibcode:1997Natur.386..296H. doi:10.1038/386296a0. PMID 9069290. S2CID 4234197.
- Kato Y, Kravchenko VV, Tapping RI, Han J, Ulevitch RJ, Lee JD (Dec 1997). "BMK1/ERK5 regulates serum-induced early gene expression through transcription factor MEF2C". The EMBO Journal. 16 (23): 7054–66. doi:10.1093/emboj/16.23.7054. PMC 1170308. PMID 9384584.
- Krainc D, Bai G, Okamoto S, Carles M, Kusiak JW, Brent RN, Lipton SA (Oct 1998). "Synergistic activation of the N-methyl-D-aspartate receptor subunit 1 promoter by myocyte enhancer factor 2C and Sp1". The Journal of Biological Chemistry. 273 (40): 26218–24. doi:10.1074/jbc.273.40.26218. PMID 9748305.
- Yang CC, Ornatsky OI, McDermott JC, Cruz TF, Prody CA (Oct 1998). "Interaction of myocyte enhancer factor 2 (MEF2) with a mitogen-activated protein kinase, ERK5/BMK1". Nucleic Acids Research. 26 (20): 4771–7. doi:10.1093/nar/26.20.4771. PMC 147902. PMID 9753748.
- Swanson BJ, Jäck HM, Lyons GE (Jun 1998). "Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes". Molecular Immunology. 35 (8): 445–58. doi:10.1016/S0161-5890(98)00058-3. PMID 9798649.
- Zhao M, New L, Kravchenko VV, Kato Y, Gram H, di Padova F, Olson EN, Ulevitch RJ, Han J (Jan 1999). "Regulation of the MEF2 family of transcription factors by p38". Molecular and Cellular Biology. 19 (1): 21–30. doi:10.1128/mcb.19.1.21. PMC 83862. PMID 9858528.
- Wilson-Rawls J, Molkentin JD, Black BL, Olson EN (Apr 1999). "Activated notch inhibits myogenic activity of the MADS-Box transcription factor myocyte enhancer factor 2C". Molecular and Cellular Biology. 19 (4): 2853–62. doi:10.1128/mcb.19.4.2853. PMC 84078. PMID 10082551.
- Yang SH, Galanis A, Sharrocks AD (Jun 1999). "Targeting of p38 mitogen-activated protein kinases to MEF2 transcription factors". Molecular and Cellular Biology. 19 (6): 4028–38. doi:10.1128/mcb.19.6.4028. PMC 104362. PMID 10330143.
- Wang AH, Bertos NR, Vezmar M, Pelletier N, Crosato M, Heng HH, Th'ng J, Han J, Yang XJ (Nov 1999). "HDAC4, a human histone deacetylase related to yeast HDA1, is a transcriptional corepressor". Molecular and Cellular Biology. 19 (11): 7816–27. doi:10.1128/mcb.19.11.7816. PMC 84849. PMID 10523670.
- Lu J, McKinsey TA, Nicol RL, Olson EN (Apr 2000). "Signal-dependent activation of the MEF2 transcription factor by dissociation from histone deacetylases". Proceedings of the National Academy of Sciences of the United States of America. 97 (8): 4070–5. Bibcode:2000PNAS...97.4070L. doi:10.1073/pnas.080064097. PMC 18151. PMID 10737771.
- Morin S, Charron F, Robitaille L, Nemer M (May 2000). "GATA-dependent recruitment of MEF2 proteins to target promoters". The EMBO Journal. 19 (9): 2046–55. doi:10.1093/emboj/19.9.2046. PMC 305697. PMID 10790371.
- Wu Z, Woodring PJ, Bhakta KS, Tamura K, Wen F, Feramisco JR, Karin M, Wang JY, Puri PL (Jun 2000). "p38 and extracellular signal-regulated kinases regulate the myogenic program at multiple steps". Molecular and Cellular Biology. 20 (11): 3951–64. doi:10.1128/MCB.20.11.3951-3964.2000. PMC 85749. PMID 10805738.
외부 링크
- MEF2C+단백질+미국국립의학도서관 의학 과목 제목(MeSH)
- 팩터북 MEF2C
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