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Wikipedia

BCKDHB

December 18, 2023

2-Oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.[5]

BCKDHB
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBCKDHB, E1B, dJ279A18.1, BCKDE1B, BCKDH E1-beta, branched chain keto acid dehydrogenase E1, beta polypeptide, branched chain keto acid dehydrogenase E1 subunit beta
External IDsOMIM: 248611 MGI: 88137 HomoloGene: 39 GeneCards: BCKDHB
Orthologs
SpeciesHumanMouse
Entrez

594

12040

Ensembl

ENSG00000083123

ENSMUSG00000032263

UniProt

P21953

Q6P3A8

RefSeq (mRNA)

NM_000056
NM_183050
NM_001318975

NM_199195
NM_001305935

RefSeq (protein)

NP_000047
NP_001305904
NP_898871

NP_001292864
NP_954665

Location (UCSC)Chr 6: 80.11 – 80.35 MbChr 9: 83.81 – 84.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function edit

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2), and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B. Alternative splicing at this locus results in transcript variants with different 3' noncoding regions, but encoding the same isoform.[5]

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000083123 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032263 - Ensembl, May 2017
  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.
  5. ^ a b "Entrez Gene: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)".

External links edit

Further reading edit

  • 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. Bibcode:2002PNAS...9916899M. 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.


 

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.

December 18, 2023
bckdhb, oxoisovalerate, dehydrogenase, subunit, beta, mitochondrial, enzyme, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1dtw, 1ols, 1olu, 1olx, 1u5b, 1v11, 1v16, 1v1m, 1v1r, 1wci, 1x7w, 1x7x, 1x7y, 1x7z, 1x80, 2. 2 Oxoisovalerate dehydrogenase subunit beta mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene 5 BCKDHBAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes1DTW 1OLS 1OLU 1OLX 1U5B 1V11 1V16 1V1M 1V1R 1WCI 1X7W 1X7X 1X7Y 1X7Z 1X80 2BEU 2BEV 2BEW 2BFB 2BFC 2BFD 2BFE 2BFF 2J9FIdentifiersAliasesBCKDHB E1B dJ279A18 1 BCKDE1B BCKDH E1 beta branched chain keto acid dehydrogenase E1 beta polypeptide branched chain keto acid dehydrogenase E1 subunit betaExternal IDsOMIM 248611 MGI 88137 HomoloGene 39 GeneCards BCKDHBGene location Human Chr Chromosome 6 human 1 Band6q14 1Start80 106 647 bp 1 End80 346 270 bp 1 Gene location Mouse Chr Chromosome 9 mouse 2 Band9 9 E2Start83 807 198 bp 2 End84 006 293 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright lobe of liverrectumAchilles tendonpopliteal arterybody of stomachleft ventriclegastric mucosasalivary glandminor salivary glandtibial nerveTop expressed inleft lobe of liverbrown adipose tissuewhite adipose tissueepithelium of stomachmyocardium of ventricleinterventricular septumplantaris musclesubcutaneous adipose tissuecardiac musclesparotid glandMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionoxidoreductase activity protein binding 3 methyl 2 oxobutanoate dehydrogenase 2 methylpropanoyl transferring activity catalytic activityCellular componentmitochondrial matrix mitochondrial alpha ketoglutarate dehydrogenase complex mitochondrionBiological processmetabolism branched chain amino acid catabolic process response to nutrientSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez59412040EnsemblENSG00000083123ENSMUSG00000032263UniProtP21953Q6P3A8RefSeq mRNA NM 000056NM 183050NM 001318975NM 199195NM 001305935RefSeq protein NP 000047NP 001305904NP 898871NP 001292864NP 954665Location UCSC Chr 6 80 11 80 35 MbChr 9 83 81 84 01 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 References 3 External links 4 Further readingFunction editBranched chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria and functions in the catabolism of branched chain amino acids The complex consists of multiple copies of 3 components branched chain alpha keto acid decarboxylase E1 lipoamide acyltransferase E2 and lipoamide dehydrogenase E3 This gene encodes the E1 beta subunit and mutations therein have been associated with maple syrup urine disease MSUD type 1B Alternative splicing at this locus results in transcript variants with different 3 noncoding regions but encoding the same isoform 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000083123 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000032263 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 a b Entrez Gene BCKDHB branched chain keto acid dehydrogenase E1 beta polypeptide maple syrup urine disease External links editHuman BCKDHB genome location and BCKDHB gene details page in the UCSC Genome Browser Further reading editPopov 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 Bibcode 2002PNAS 9916899M 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 Portal nbsp Biology nbsp This article on a gene on human chromosome 6 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title BCKDHB amp oldid 1115817815, wikipedia, wiki, book, books, library,

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