BCKDHB
BCKDHB| BCKDHB | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 | |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| 식별자 | |||||||||||||||||||||||||
| 별칭 | BCKDHB, E1B, dJ279A18.1, BCKDE1B, BCKDH E1-베타, 브랜딩 체인 케토산 탈수소효소 E1, 베타 폴리펩타이드, 브랜딩 체인 케토산 탈수소효소 E1 서브유닛 베타 | ||||||||||||||||||||||||
| 외부 ID | OMIM: 248611 MGI: 88137 HomoloGene: 39 GeneCard: BCKDHB | ||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| 직교체 | |||||||||||||||||||||||||
| 종 | 인간 | 마우스 | |||||||||||||||||||||||
| 엔트레스 | |||||||||||||||||||||||||
| 앙상블 | |||||||||||||||||||||||||
| 유니프로트 | |||||||||||||||||||||||||
| RefSeq(mRNA) | |||||||||||||||||||||||||
| RefSeq(단백질) | |||||||||||||||||||||||||
| 위치(UCSC) | Chr 6: 80.11 – 80.35Mb | Chr 9: 83.81 – 84.01Mb | |||||||||||||||||||||||
| PubMed 검색 | [3] | [4] | |||||||||||||||||||||||
| 위키다타 | |||||||||||||||||||||||||
| |||||||||||||||||||||||||
2-산소아발효소 소단위 베타, 미토콘드리아(mitochondrial)는 인간에서 BCKDHB 유전자에 의해 인코딩되는 효소다.[5]
함수
브랜치-체인 케토산 탈수소효소는 미토콘드리아의 내막과 연관된 멀티엔자임 복합체로, 브랜치-체인 아미노산의 카타볼리즘에 작용한다.이 단지는 브랜딩 체인 알파케토산 데카르복실라아제(E1), 리포아미드 아킬트랜스퍼레이제(E2), 리포아미드 탈수소효소(E3) 등 3가지 성분의 복사로 구성된다.이 유전자는 E1 베타 서브 유닛을 암호화하고, 거기서 돌연변이가 1B형인 메이플 시럽 소변 질환과 연관되어 왔다.이 위치에서의 대체 스플라이싱은 3' 비코딩 영역은 다르지만 동일한 ISO 양식을 인코딩하는 대본 변형을 초래한다.[5]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG000083123 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000032263 - 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.
- ^ a b "Entrez Gene: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)".
외부 링크
- UCSC 게놈 브라우저의 인간 BCKDHB 게놈 위치 및 BCKDHB 유전자 세부 정보 페이지.
추가 읽기
- Popov KM, Zhao Y, Shimomura Y, et al. (1992). "Branched-chain alpha-ketoacid dehydrogenase kinase. Molecular cloning, expression, and sequence similarity with histidine protein kinases". J. Biol. Chem. 267 (19): 13127–30. doi:10.1016/S0021-9258(18)42179-5. PMID 1377677.
- Mitsubuchi H, Nobukuni Y, Endo F, Matsuda I (1991). "Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase". J. Biol. Chem. 266 (22): 14686–91. doi:10.1016/S0021-9258(18)98740-5. PMID 1860867.
- Zneimer SM, Lau KS, Eddy RL, et al. (1991). "Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31". Genomics. 10 (3): 740–7. doi:10.1016/0888-7543(91)90458-Q. PMID 1889817.
- Nobukuni Y, Mitsubuchi H, Akaboshi I, et al. (1991). "Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease". J. Clin. Invest. 87 (5): 1862–6. doi:10.1172/JCI115209. PMC 295312. PMID 2022752.
- Chuang JL, Cox RP, Chuang DT (1990). "Molecular cloning of the mature E1b-beta subunit of human branched-chain alpha-keto acid dehydrogenase complex". FEBS Lett. 262 (2): 305–9. doi:10.1016/0014-5793(90)80215-5. PMID 2335211. S2CID 84069883.
- Nobukuni Y, Mitsubuchi H, Endo F, et al. (1990). "Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease". J. Clin. Invest. 86 (1): 242–7. doi:10.1172/JCI114690. PMC 296713. PMID 2365818.
- Wynn RM, Kochi H, Cox RP, Chuang DT (1994). "Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N-terminal proline in the rat sequence". Biochim. Biophys. Acta. 1201 (1): 125–8. doi:10.1016/0304-4165(94)90161-9. PMID 7918575.
- Nobukuni Y, Mitsubuchi H, Hayashida Y, et al. (1993). "Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex". Biochim. Biophys. Acta. 1225 (1): 64–70. doi:10.1016/0925-4439(93)90123-i. PMID 8161368.
- Chuang JL, Cox RP, Chuang DT (1996). "Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences". Am. J. Hum. Genet. 58 (6): 1373–7. PMC 1915070. PMID 8651316.
- Edelmann L, Wasserstein MP, Kornreich R, et al. (2001). "Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population". Am. J. Hum. Genet. 69 (4): 863–8. doi:10.1086/323677. PMC 1226071. PMID 11509994.
- Chang CF, Chou HT, Chuang JL, et al. (2002). "Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex". J. Biol. Chem. 277 (18): 15865–73. doi:10.1074/jbc.M110952200. PMID 11839747.
- 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. USA. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Wynn RM, Machius M, Chuang JL, et al. (2003). "Roles of His291-alpha and His146-beta' in the reductive acylation reaction catalyzed by human branched-chain alpha-ketoacid dehydrogenase: refined phosphorylation loop structure in the active site". J. Biol. Chem. 278 (44): 43402–10. doi:10.1074/jbc.M306204200. PMID 12902323.
- Li J, Wynn RM, Machius M, et al. (2004). "Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase". J. Biol. Chem. 279 (31): 32968–78. doi:10.1074/jbc.M403611200. PMID 15166214.
- 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.
- Machius M, Wynn RM, Chuang JL, et al. (2006). "A versatile conformational switch regulates reactivity in human branched-chain alpha-ketoacid dehydrogenase". Structure. 14 (2): 287–98. doi:10.1016/j.str.2005.10.009. PMID 16472748.
- Li J, Machius M, Chuang JL, et al. (2007). "The two active sites in human branched-chain alpha-keto acid dehydrogenase operate independently without an obligatory alternating-site mechanism". J. Biol. Chem. 282 (16): 11904–13. doi:10.1074/jbc.M610843200. PMID 17329260.
PDB 갤러리 | |
|---|---|
|
