가지사슬 케토산 탈수소효소 키네이스

가지사슬 케토산 탈수소효소 키네이스(영어: branched chain ketoacid dehydrogenase kinase, BCKDK)는 16번 염색체에 있는 BCKDK 유전자에 의해 암호화되는 효소이다. 이 효소는 미토콘드리아 단백질 키네이스 패밀리의 일부이며 발린, 류신, 아이소류신의 이화 경로의 조절자이다. BCKDK는 미토콘드리아 기질에서 발견되며 그 유병률은 세포 유형에 따라 다르다. 간세포는 BCKDK의 농도가 가장 낮은 경향이 있는 반면, 골격근 세포는 가장 높은 농도를 가지고 있다. 이 효소의 비정상적인 활성은 종종 단풍시럽뇨병 및 악액질과 같은 질병으로 이어진다. 가지사슬 아미노산 가지사슬 케토산 탈수소효소 키네이스 결핍증 GRCh38: Ensembl release 89: ENSG00000103507 - 앙상블, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000030802 - 앙상블, May 2017 “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》.  “Entrez Gene: BCKDK branched chain ketoacid dehydrogenase kinase”.  Popov KM, Zhao Y, Shimomura Y, Kuntz MJ, Harris RA (Jul 1992). “Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases”. 《The Journal of Biological Chemistry》 267 (19): 13127–30. doi:10.1016/S0021-9258(18)42179-5. PMID 1377677.  Muller EA, Danner DJ (Oct 2004). “Tissue-specific translation of murine branched-chain alpha-ketoacid dehydrogenase kinase mRNA is dependent upon an upstream open reading frame in the 5'-untranslated region”. 《The Journal of Biological Chemistry》 279 (43): 44645–55. doi:10.1074/jbc.M406550200. PMID 15302860.  Popov KM, Zhao Y, Shimomura Y, Kuntz MJ, Harris RA (Jul 1992). “Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases”. 《The Journal of Biological Chemistry》 267 (19): 13127–30. doi:10.1016/S0021-9258(18)42179-5. PMID 1377677.  Chang CF, Chou HT, Chuang JL, Chuang DT, Huang TH (May 2002). “Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex”. 《The Journal of Biological Chemistry》 277 (18): 15865–73. doi:10.1074/jbc.M110952200. PMID 11839747.  Xu YC, Wu RF, Gu Y, Yang YS, Yang MC, Nwariaku FE, Terada LS (Aug 2002). “Involvement of TRAF4 in oxidative activation of c-Jun N-terminal kinase”. 《The Journal of Biological Chemistry》 277 (31): 28051–7. doi:10.1074/jbc.M202665200. PMID 12023963.  Starcevic M, Dell'Angelica EC (Jul 2004). “Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)”. 《The Journal of Biological Chemistry》 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.  Wynn RM, Kato M, Machius M, Chuang JL, Li J, Tomchick DR, Chuang DT (Dec 2004). “Molecular mechanism for regulation of the human mitochondrial branched-chain alpha-ketoacid dehydrogenase complex by phosphorylation”. 《Structure》 12 (12): 2185–96. doi:10.1016/j.str.2004.09.013. PMID 15576032.  Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). “Towards a proteome-scale map of the human protein-protein interaction network”. 《Nature》 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.  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.  틀:UCSC genome browser 틀:UCSC gene details