Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBTgene.[5][6][7]
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. PMC1683011. 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. PMC295137. 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. PMC1715554. 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. PMC1163502. 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. PMC1682180. PMID 8430702.
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
gene, lipoamide, acyltransferase, component, branched, chain, alpha, keto, acid, dehydrogenase, complex, mitochondrial, enzyme, that, humans, encoded, gene, dbtavailable, structurespdbortholog, search, pdbe, rcsblist, codes1k8m, 1k8o, 1zwv, 2coo, 3rnmidentifie. Lipoamide acyltransferase component of branched chain alpha keto acid dehydrogenase complex mitochondrial is an enzyme that in humans is encoded by the DBT gene 5 6 7 DBTAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes1K8M 1K8O 1ZWV 2COO 3RNMIdentifiersAliasesDBT BCATE2 BCKAD E2 BCKADE2 E2 E2B BCOADC E2 dihydrolipoamide branched chain transacylase E2 BCKDH E2External IDsOMIM 248610 MGI 105386 HomoloGene 1444 GeneCards DBTGene location Human Chr Chromosome 1 human 1 Band1p21 2Start100 186 919 bp 1 End100 249 834 bp 1 Gene location Mouse Chr Chromosome 3 mouse 2 Band3 G1 3 50 37 cMStart116 306 719 bp 2 End116 343 630 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inrenal medullaendothelial cellcardiaventral tegmental areanipplepylorustrigeminal ganglionexternal globus pallidusinferior ganglion of vagus nervesubthalamic nucleusTop expressed inbrown adipose tissueparotid glandintercostal muscleleft lobe of liverlacrimal glandepithelium of stomachretinal pigment epitheliumkidneymyocardium of ventricleproximal tubuleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionacyltransferase activity ubiquitin protein ligase binding transferase activity dihydrolipoyllysine residue 2 methylpropanoyl transferase activity acetyltransferase activity lipoic acid bindingCellular componentmitochondrial matrix mitochondrial alpha ketoglutarate dehydrogenase complex mitochondrial nucleoid mitochondrion cytoplasmBiological processmetabolism branched chain amino acid catabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez162913171EnsemblENSG00000137992ENSMUSG00000000340UniProtP11182P53395RefSeq mRNA NM 001918NM 010022NM 001357344RefSeq protein NP 001909NP 034152NP 001344273Location UCSC Chr 1 100 19 100 25 MbChr 3 116 31 116 34 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse The branched chain alpha keto acid dehydrogenase complex BCKD is an inner mitochondrial enzyme complex involved in the breakdown of the branched chain amino acids isoleucine leucine and valine The BCKD complex is thought to be composed of a core of 24 transacylase E2 subunits and associated decarboxylase E1 dehydrogenase E3 and regulatory subunits This gene encodes the transacylase E2 subunit Mutations in this gene result in maple syrup urine disease type 2 Alternatively spliced transcript variants have been described but their biological validity has not been determined 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000137992 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000000340 Ensembl 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 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 Further reading editPatel 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 nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title DBT gene amp oldid 1215890933, wikipedia, wiki, book, books, library,
