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Details on Person UniProt:P21953 BCKDHB
| Class:Id | ReferenceGeneProduct:60860 |
|---|---|
| _chainChangeLog | transit peptide:1-50 added on Fri February 6 2015;chain:51-392 added on Fri February 6 2015 |
| _displayName | UniProt:P21953 BCKDHB |
| _timestamp | 2026-02-20 22:57:59 |
| chain | transit peptide:1-50 chain:51-392 |
| checksum | D78097834D063BB7 |
| comment | FUNCTION Together with BCKDHA forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex. The BCKD complex catalyzes the multi-step oxidative decarboxylation of alpha-ketoacids derived from the branched-chain amino-acids valine, leucine and isoleucine producing CO2 and acyl-CoA which is subsequently utilized to produce energy. The E1 subunit catalyzes the first step with the decarboxylation of the alpha-ketoacid forming an enzyme-product intermediate. A reductive acylation mediated by the lipoylamide cofactor of E2 extracts the acyl group from the E1 active site for the next step of the reaction.CATALYTIC ACTIVITY N(6)-[(R)-lipoyl]-L-lysyl-[protein] + 3-methyl-2-oxobutanoate + H(+) = N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L-lysyl-[protein] + CO2CATALYTIC ACTIVITY N(6)-[(R)-lipoyl]-L-lysyl-[protein] + 4-methyl-2-oxopentanoate + H(+) = N(6)-[(R)-S(8)-3-methylbutanoyldihydrolipoyl]-L-lysyl-[protein] + CO2CATALYTIC ACTIVITY N(6)-[(R)-lipoyl]-L-lysyl-[protein] + (S)-3-methyl-2-oxopentanoate + H(+) = N(6)-{(R)-S(8)-[(2S)-2-methylbutanoyl]dihydrolipoyl}-L-lysyl-[protein] + CO2COFACTOR Heterotetramer of 2 alpha/BCKDHA and 2 beta chains/BCKDHB that forms the branched-chain alpha-keto acid decarboxylase (E1) component of the BCKD complex (PubMed:10745006, PubMed:9582350). The branched-chain alpha-ketoacid dehydrogenase is a large complex composed of three major building blocks E1, E2 and E3. It is organized around E2, a 24-meric cubic core composed of DBT, to which are associated 6 to 12 copies of E1, and approximately 6 copies of the dehydrogenase E3, a DLD dimer (PubMed:10745006).INTERACTION The disease is caused by variants affecting the gene represented in this entry. |
| description | recommendedName: fullName evidence="11"2-oxoisovalerate dehydrogenase subunit beta, mitochondrial ecNumber evidence="3 7"1.2.4.4 alternativeName: Branched-chain alpha-keto acid dehydrogenase E1 component beta chain shortName: BCKDE1B shortName: BCKDH E1-beta |
| geneName | BCKDHB |
| identifier | P21953 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Direct protein sequencing Disease variant Lipid metabolism Maple syrup urine disease Mitochondrion Oxidoreductase Proteomics identification Reference proteome Transit peptide |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | BCKDHB |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8988546] ENSEMBL:ENSG00000083123 BCKDHB [Homo sapiens] |
| secondaryIdentifier | ODBB_HUMAN Q5T2J3 Q9BQL0 |
| sequenceLength | 392 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8968903] UniProt:P21953-1 BCKDHB [Homo sapiens] [ReferenceIsoform:8968904] UniProt:P21953-2 BCKDHB [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:70015] BCKDHB [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:5693124] p-S342-BCKDHB [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9865041] R183P BCKDHB [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9865047] H206R BCKDHB [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9865060] Q346R BCKDHB [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9865063] N176Y BCKDHB [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9865069] G278S BCKDHB [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9865071] R170H BCKDHB [mitochondrial matrix] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:5693123] O-phospho-L-serine at 342 [ReplacedResidue:9865010] L-histidine 206 replaced with L-arginine [ReplacedResidue:9865017] L-arginine 170 replaced with L-histidine [ReplacedResidue:9865018] L-arginine 183 replaced with L-proline [ReplacedResidue:9865020] L-arginine 183 replaced with L-proline [ReplacedResidue:9865021] L-asparagine 176 replaced with L-tyrosine [ReplacedResidue:9865024] glycine 278 replaced with L-serine [ReplacedResidue:9865026] L-glutamine 346 replaced with L-arginine |
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No pathways have been reviewed or authored by UniProt:P21953 BCKDHB (60860)
