DBT(gene)

DBT
사용 가능한 구조물
PDB	직교 검색: PDBe RCSB
PDB ID 코드 목록
	1K8M, 1K8O, 1ZWV, 2COO, 3RNM
식별자
별칭	DBT, BCATE2, BCKAD-E2, BCKAD-E2, BCKAD2, E2, E2B, BCOADC-E2, 디하이드로롤라미드 브랜치 체인 트랜스사이실라제 E2, BCKDH-E2
외부 ID	OMIM: 248610 MGI: 105386 HomoloGene: 1444 GeneCard: DBT
유전자 위치(인간)
쳇.	염색체 1 (인간)
끝	100,249,834 bp
유전자 위치(마우스)
쳇.	3번 염색체(쥐)
끝	116,343,192 bp
RNA 표현 패턴
	표현된 상단
	질신경의 열등성; ; 후두엽; ; 신간문장; ; 소뇌; ; 두정엽; ; 오블롱가타; ; 핵이 응축;
	추가 참조 표현식 데이터
	; ; ; ;
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	아킬전달효소 활동; 유비퀴틴 단백질 리가제 결합; 전이효소 활동; dihydrolipoylsine-diween (2-methylpropanoyl)전달효소; 아세틸전달효소 활동; 지포산 제본;
셀룰러 컴포넌트	미토콘드리아 행렬; 미토콘드리아 알파-케토글루타레이트 탈수소효소 복합체; 미토콘드리아 핵종; 미토콘드리온; 세포질;
생물학적 과정	신진대사를 하다; 브랜치 체인 아미노산 포물선 공정;
	출처:아미고 / 퀵고
직교체
	1629
	13171
	ENSG00000137992
	ENSMUSG00000000340
	P11182
	P53395
	NM_001918
	NM_010022; NM_001357344
	NP_001909
	NP_034152; NP_001344273
	위키다타
인간 보기/편집	마우스 보기/편집

브랜치 체인 알파케토산 탈수소효소 복합체의 Lipoamide acyltransferase 성분, 미토콘드리아는 인간에서 DBT 유전자에 의해 인코딩되는 효소다.^[5]^[6]^[7]

브랜치 체인 알파케토산 탈수소효소 복합체(BCKD)는 브랜치 체인 아미노산 이솔레우신, 류신, 발레린의 분해에 관여하는 내측 미토콘드리아 효소 복합체다.BCKD 복합체는 24개의 트랜시실라제(E2) 서브유닛과 관련 데카복실라제(E1)와 탈수소효소(E3) 및 규제 서브유닛의 코어로 구성되는 것으로 생각된다.이 유전자는 Transacylase (E2) 서브유닛을 인코딩한다.이 유전자의 돌연변이는 메이플 시럽 소변 질환, 타입 2를 초래한다.대안으로 분할된 대본 변형이 설명되었지만, 그 생물학적 타당성은 결정되지 않았다.^[7]

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000137992 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG00000000340 - 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.
^ Lau KS, Chuang JL, Herring WJ, Danner DJ, Cox RP, Chuang DT (Dec 1992). "The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex". Biochim Biophys Acta. 1132 (3): 319–21. doi:10.1016/0167-4781(92)90169-z. PMID 1420314.
^ Lau KS, Herring WJ, Chuang JL, McKean M, Danner DJ, Cox RP, Chuang DT (Dec 1992). "Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene". J Biol Chem. 267 (33): 24090–6. doi:10.1016/S0021-9258(18)35950-7. PMID 1429740.
^ ^a ^b "Entrez Gene: DBT dihydrolipoamide branched chain transacylase E2".

추가 읽기

Patel MS, Harris RA (1995). "Mammalian alpha-keto acid dehydrogenase complexes: gene regulation and genetic defects". FASEB J. 9 (12): 1164–72. doi:10.1096/fasebj.9.12.7672509. PMID 7672509. S2CID 25326935.
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.
Fisher CW, Lau KS, Fisher CR, et al. (1991). "A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34". Biochem. Biophys. Res. Commun. 174 (2): 804–9. doi:10.1016/0006-291X(91)91489-Y. PMID 1847055.
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.
Chuang DT, Fisher CW, Lau KS, et al. (1991). "Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex". Mol. Biol. Med. 8 (1): 49–63. PMID 1943690.
Herring WJ, Litwer S, Weber JL, Danner DJ (1991). "Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1". Am. J. Hum. Genet. 48 (2): 342–50. PMC 1683011. PMID 1990841.
Lau KS, Lee J, Fisher CW, et al. (1991). "Premature termination of transcription and alternative splicing in the human transacylase (E2) gene of the branched-chain alpha-ketoacid dehydrogenase complex". FEBS Lett. 279 (2): 229–32. doi:10.1016/0014-5793(91)80155-V. PMID 2001734.
Mitsubuchi H, Nobukuni Y, Akaboshi I, et al. (1991). "Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region". J. Clin. Invest. 87 (4): 1207–11. doi:10.1172/JCI115120. PMC 295137. PMID 2010537.
Danner DJ, Litwer S, Herring WJ, Pruckler J (1989). "Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase". J. Biol. Chem. 264 (13): 7742–6. doi:10.1016/S0021-9258(18)83297-5. PMID 2708389.
Nobukuni Y, Mitsubuchi H, Endo F, Matsuda I (1989). "Complete primary structure of the transacylase (E2b) subunit of the human branched chain alpha-keto acid dehydrogenase complex". Biochem. Biophys. Res. Commun. 161 (3): 1035–41. doi:10.1016/0006-291X(89)91347-8. PMID 2742576.
Lau KS, Griffin TA, Hu CW, Chuang DT (1988). "Conservation of primary structure in the lipoyl-bearing and dihydrolipoyl dehydrogenase binding domains of mammalian branched-chain alpha-keto acid dehydrogenase complex: molecular cloning of human and bovine transacylase (E2) cDNAs". Biochemistry. 27 (6): 1972–81. doi:10.1021/bi00406a025. PMID 2837277.
Litwer S, Danner DJ (1985). "Identification of a cDNA clone in lambda gt11 for the transacylase component of branched chain ketoacid dehydrogenase". Biochem. Biophys. Res. Commun. 131 (2): 961–7. doi:10.1016/0006-291X(85)91333-6. PMID 2932110.
Litwer S, Danner DJ (1988). "Mitochondrial import and processing of an in vitro synthesized human prebranched chain acyltransferase fragment". Am. J. Hum. Genet. 43 (5): 764–9. PMC 1715554. PMID 3189339.
Hummel KB, Litwer S, Bradford AP, et al. (1988). "Nucleotide sequence of a cDNA for branched chain acyltransferase with analysis of the deduced protein structure". J. Biol. Chem. 263 (13): 6165–8. doi:10.1016/S0021-9258(18)68766-6. PMID 3245861.
Chuang DT, Niu WL, Cox RP (1982). "Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects". Biochem. J. 200 (1): 59–67. doi:10.1042/bj2000059. PMC 1163502. PMID 6895847.
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.
Fisher CW, Fisher CR, Chuang JL, et al. (1993). "Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations". Am. J. Hum. Genet. 52 (2): 414–24. PMC 1682180. PMID 8430702.

인간 염색체 1번 유전자에 관한 이 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000137992 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG00000000340 - 앙상블, 2017년 5월

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1420314-5] Lau KS, Chuang JL, Herring WJ, Danner DJ, Cox RP, Chuang DT (Dec 1992). "The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex". Biochim Biophys Acta. 1132 (3): 319–21. doi:10.1016/0167-4781(92)90169-z. PMID 1420314.

[pmid1429740-6] Lau KS, Herring WJ, Chuang JL, McKean M, Danner DJ, Cox RP, Chuang DT (Dec 1992). "Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene". J Biol Chem. 267 (33): 24090–6. doi:10.1016/S0021-9258(18)35950-7. PMID 1429740.

[entrez-7] "Entrez Gene: DBT dihydrolipoamide branched chain transacylase E2".

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[2]

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[7]

v t 알데히드/옥소 산화효소(EC 1.2)
1.2.1: NAD 또는 NADP	알데히드 탈수소효소 아세트알데히드 탈수소효소 롱체인알데히드탈수소효소 미코티올 의존성 포름알데히드 탈수소효소
1.2.2: 사이토크롬	포메이트 탈수소효소(사이토크롬)
1.2.3: 산소	알데히드 산화효소
1.2.4: 이황화	옥소글루타레이트 탈수소효소 복합체 화농산탈수소효소 브랜치 체인 알파케토산 탈수소효소 복합체 벡다 BCKDHB DBT DLD
1.2.7: 철분-철분 단백질	피루바테신타아제

v t 효소: 멀티엔자임 콤플렉스
광합성	광합성 반응 중심 복합 단백질 포토시스템 I II
탈수소효소	화농산탈수소효소 복합체 E1 E2 E3 옥소글루타레이트탈수소효소 OGDH DLST DLD 브랜치 체인 알파케토산 탈수소효소 복합체 벡다 BCKDHB DBT DLD
기타	CAD 카바모일 인산염 신타아제 II 아스파리트카바모일전달효소 디히드로오타아제 P450 포함 시스템 시토크롬 b6f 복합체 전자수송체인 지방산합성효소복합체 글리신데카르복실화효소복합체 미토콘드리아 3기능성 단백질 HADHA HADHB 인산염피루브산당인산화효소계통 폴리케타이드신분해효소 수크레이스-이소말타아제 복합체 트립토판신타아제

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DBT(gene)

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