MKL/메가카리오블라스틱 백혈병 1(MRTFA/Myopardin 관련 전사 인자 A라고도 함)은 인간에서 MKL1 유전자 에 의해 인코딩되는 단백질 이다.[5] [6] [7] [8]
함수 이 유전자에 의해 암호화된 단백질은 액틴 시토스켈레톤에 의해 조절되며 액틴 역학의 결과로서 세포질과 핵 사이에서 결합된다.[9] 핵에서, 그것은 그것의 기본영역에 의해 매개된 상호작용에서 부드러운 근육 세포 분화의 핵심 조절기인 [10] 계수 혈청 반응 인자 를 공동 활성화한다. MKL2 및 심근 과 밀접한 관련이 있으며, 5개의 핵심 보존 구조 영역을 공유한다.[11]
임상적 유의성 이 유전자는 이 유전자와 RNA 결합 모티브 단백질-15 유전자의 융합을 일으키는 특정한 번역 이벤트에 관여한다. 이 번역은 급성 메카로시성 백혈병 과 관련이 있다.[8] 그것은 또한 정상적인 메가카로시세포가 성숙하는 과정에서도 기능한다.[12]
참고 항목 참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000196588 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000042292 - 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 .^ Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, Bouman D, Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GC, Chan LC, Squire J, Scherer SW, Hitzler JK (Jul 2001). "Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia". Nature Genetics . 28 (3): 220–1. doi :10.1038/90054 . PMID 11431691 . S2CID 36236342 . ^ Sasazuki T, Sawada T, Sakon S, Kitamura T, Kishi T, Okazaki T, Katano M, Tanaka M, Watanabe M, Yagita H, Okumura K, Nakano H (Aug 2002). "Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death" . The Journal of Biological Chemistry . 277 (32): 28853–60. doi :10.1074/jbc.M203190200 PMID 12019265 . ^ Du KL, Chen M, Li J, Lepore JJ, Mericko P, Parmacek MS (Apr 2004). "Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells" . The Journal of Biological Chemistry . 279 (17): 17578–86. doi :10.1074/jbc.M400961200 PMID 14970199 . ^ a b "Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1" .^ Vartiainen MK, Guettler S, Larijani B, Treisman R (Jun 2007). "Nuclear actin regulates dynamic subcellular localization and activity of the SRF cofactor MAL". Science . 316 (5832): 1749–52. Bibcode :2007Sci...316.1749V . doi :10.1126/science.1141084 . PMID 17588931 . S2CID 44910416 . ^ Miralles F, Posern G, Zaromytidou AI, Treisman R (May 2003). "Actin dynamics control SRF activity by regulation of its coactivator MAL" . Cell . 113 (3): 329–42. doi :10.1016/S0092-8674(03)00278-2 PMID 12732141 . ^ Wang DZ, Li S, Hockemeyer D, Sutherland L, Wang Z, Schratt G, Richardson JA, Nordheim A, Olson EN (Nov 2002). "Potentiation of serum response factor activity by a family of myocardin-related transcription factors" . Proceedings of the National Academy of Sciences of the United States of America . 99 (23): 14855–60. Bibcode :2002PNAS...9914855W . doi :10.1073/pnas.222561499 PMC 137508 PMID 12397177 . ^ Cheng EC, Luo Q, Bruscia EM, Renda MJ, Troy JA, Massaro SA, et al. (March 2009). "Role for MKL1 in megakaryocytic maturation" . Blood . 113 (12): 2826–34. doi :10.1182/blood-2008-09-180596 . PMC 2661865 PMID 19136660 .
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