BCKDHB report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0007584Biological processresponse to nutrient
GO_0051591Biological processresponse to cAMP
GO_0051384Biological processresponse to glucocorticoid
GO_0006629Biological processlipid metabolic process
GO_0009083Biological processbranched-chain amino acid catabolic process
GO_0005730Cellular componentnucleolus
GO_0160157Cellular componentbranched-chain alpha-ketoacid dehydrogenase complex
GO_0045252Cellular componentoxoglutarate dehydrogenase complex
GO_0005654Cellular componentnucleoplasm
GO_0005759Cellular componentmitochondrial matrix
GO_0005739Cellular componentmitochondrion
GO_0044877Molecular functionprotein-containing complex binding
GO_0047101Molecular functionbranched-chain alpha-keto acid dehydrogenase activity
GO_0003863Molecular function3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameBCKDHB
Protein name3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) (EC 1.2.4.4)
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (EC 1.2.4.4) (Branched-chain alpha-keto acid dehydrogenase E1 component beta chain) (BCKDE1B) (BCKDH E1-beta)
Synonyms
DescriptionFUNCTION: 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. .

AccessionsENST00000356489.9 [P21953-1]
ENST00000320393.9 [P21953-1]
ENST00000369760.8 [P21953-2]
P21953
A0A0K2GN21