MYH14 식별자 별칭 MYH14 외부 ID OMIM : 608568 MGI : 1919210 호몰로진 : 23480 GeneCard : MYH14 직교체 종 인간 마우스 엔트레스 앙상블 유니프로트 RefSeq(mRNA) RefSeq(단백질) 위치(UCSC) Cr 19: 50.19 – 50.31Mb Cr 7: 44.61 – 44.67Mb PubMed 검색[3] [4] 위키다타
Myosin-14 는 인간에게 MYH14 유전자 에 의해 암호화된 단백질 이다.[5] [6] [7]
이 유전자는 미오신 대가족 의 한 구성원을 암호로 한다. 미오신은 세포운동성 세포극성 조절 등 다양한 기능을 가진 액틴 의존성 운동단백질 이다. 이 유전자의 돌연변이 는 자가 우성 청력 장애의 한 형태를 초래한다. 이 유전자에 대해 서로 다른 ISO 양식 을 인코딩하는 다중 대본 변형이 발견되었다.[7]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000105357 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000030739 - 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 .^ Leal A, Endele S, Stengel C, Huehne K, Loetterle J, Barrantes R, Winterpacht A, Rautenstrauss B (Aug 2003). "A novel myosin heavy chain gene in human chromosome 19q13.3". Gene . 312 : 165–71. doi :10.1016/S0378-1119(03)00613-9 . PMID 12909352 . ^ Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nurnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A (Mar 2004). "Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)" . Am J Hum Genet . 74 (4): 770–6. doi :10.1086/383285 . PMC 1181955 PMID 15015131 . ^ a b "Entrez Gene: MYH14 myosin, heavy chain 14" . 추가 읽기 Chen AH, Ni L, Fukushima K, et al. (1995). "Linkage of a gene for dominant non-syndromic deafness to chromosome 19". Hum. Mol. Genet . 4 (6): 1073–6. doi :10.1093/hmg/4.6.1073 . PMID 7655461 . Shoeman RL, Sachse C, Höner B, et al. (1993). "Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin" . Am. J. Pathol . 142 (1): 221–30. PMC 1886840 PMID 8424456 . Xu XR, Huang J, Xu ZG, et al. (2002). "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver" . Proc. Natl. Acad. Sci. U.S.A . 98 (26): 15089–94. doi :10.1073/pnas.241522398 PMC 64988 PMID 11752456 . Desjardins PR, Burkman JM, Shrager JB, et al. (2002). "Evolutionary implications of three novel members of the human sarcomeric myosin heavy chain gene family" . Mol. Biol. Evol . 19 (4): 375–93. doi :10.1093/oxfordjournals.molbev.a004093 PMID 11919279 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Golomb E, Ma X, Jana SS, et al. (2004). "Identification and characterization of nonmuscle myosin II-C, a new member of the myosin II family" . J. Biol. Chem . 279 (4): 2800–8. doi :10.1074/jbc.M309981200 PMID 14594953 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol . 6 (2): 97–105. doi :10.1038/ncb1086 . PMID 14743216 . S2CID 11683986 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression" . Proc. Natl. Acad. Sci. U.S.A . 101 (44): 15724–9. Bibcode :2004PNAS..10115724W . doi :10.1073/pnas.0404089101 PMC 524842 PMID 15498874 . Kim KY, Kovács M, Kawamoto S, et al. (2005). "Disease-associated mutations and alternative splicing alter the enzymatic and motile activity of nonmuscle myosins II-B and II-C" . J. Biol. Chem . 280 (24): 22769–75. doi :10.1074/jbc.M503488200 PMID 15845534 . Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration" . Cell . 125 (4): 801–14. doi :10.1016/j.cell.2006.03.032 PMID 16713569 . S2CID 13709685 .
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