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branched chain keto acid dehydrogenase E1 subunit beta

Summary

Gene Symbol

BCKDHB

Aliases

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
maple syrup urine disease

Organism

Homo sapiens (human)

External Links

NCBI Gene

594

HGNC

987

KEGG Gene ID

hsa:594

PubChem

594

Alliance of Genome Resources

HGNC:987

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Direct protein sequencing
Disease variant
Lipid metabolism
Maple syrup urine disease
Mitochondrion
Oxidoreductase
Reference proteome
Signal
Transit peptide

Proteins

Displaying **all 4** entries
UniProt	Protein Name
B4E2N3
P21953	Branched-chain alpha-keto acid dehydrogenase E1 component beta chain
A0A140VKB3
B7ZB80

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
branched-chain amino acid catabolic process	IBA IDA IMP	10745006 2022752 3593587
response to nutrient	IBA
response to glucocorticoid	IEA
response to cAMP	IEA
lipid metabolic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

branched-chain amino acid metabolic process [inference]

branched-chain amino acid catabolic process

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

catabolic process [inference]

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

organic substance catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

branched-chain amino acid metabolic process [inference]

branched-chain amino acid catabolic process

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

primary metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

branched-chain amino acid metabolic process [inference]

branched-chain amino acid catabolic process

lipid metabolic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

branched-chain amino acid metabolic process [inference]

branched-chain amino acid catabolic process

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

branched-chain amino acid metabolic process [inference]

branched-chain amino acid catabolic process

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

lipid metabolic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

branched-chain amino acid metabolic process [inference]

branched-chain amino acid catabolic process

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

organic substance catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

branched-chain amino acid metabolic process [inference]

branched-chain amino acid catabolic process

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

response to stimulus [inference]

response to external stimulus [inference]

response to extracellular stimulus [inference]

response to nutrient levels [inference]

response to nutrient

response to endogenous stimulus [inference]

response to hormone [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid

response to chemical [inference]

response to nutrient

response to organic substance [inference]

response to hormone [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid

response to organonitrogen compound [inference]

response to purine-containing compound [inference]

response to cAMP

response to organic cyclic compound [inference]

response to purine-containing compound [inference]

response to cAMP

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid

response to lipid [inference]

response to steroid hormone [inference]

response to corticosteroid [inference]

response to glucocorticoid

response to organophosphorus [inference]

response to cAMP

response to nitrogen compound [inference]

response to organonitrogen compound [inference]

response to purine-containing compound [inference]

response to cAMP

response to oxygen-containing compound [inference]

response to cAMP

Displaying **all 5** entries
GO Term	Evidence Code	PMID
nucleoplasm	IDA
oxoglutarate dehydrogenase complex	IBA
mitochondrion	HTP IDA IMP	2022752 34800366
mitochondrial matrix	NAS TAS	3593587
nucleolus	IDA

GO Hierarchy

cellular component

protein-containing complex [inference]

catalytic complex [inference]

tricarboxylic acid cycle enzyme complex [inference]

dihydrolipoyl dehydrogenase complex [inference]

oxoglutarate dehydrogenase complex

oxidoreductase complex [inference]

dihydrolipoyl dehydrogenase complex [inference]

oxoglutarate dehydrogenase complex

transferase complex [inference]

oxoglutarate dehydrogenase complex

cellular anatomical entity [inference]

nucleoplasm

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

nucleolus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

intracellular non-membrane-bounded organelle [inference]

nucleolus

Displaying **all 4** entries
GO Term	Evidence Code	PMID
protein binding	IPI	10745006 12902323 15166214 15576032 28514442 33961781
protein-containing complex binding	IEA
2-oxoisovalerate dehydrogenase (acylating) activity	IDA	3593587
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IDA IMP	10745006 2022752 9582350

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor [inference]

2-oxoisovalerate dehydrogenase (acylating) activity

oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor [inference]

3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity

binding [inference]

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

2-oxoisovalerate dehydrogenase, subunit beta

Functional Category

C: Energy production and conversion
G: Carbohydrate transport and metabolism
H: Coenzyme transport and metabolism
I: Lipid transport and metabolism

Displaying **all 3** entries
Gene Ontology
branched-chain amino acid catabolic process
catalytic activity
response to nutrient

Displaying **all 4** entries
InterPro
Thiamin diphosphate-binding fold
Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II
Transketolase, C-terminal domain
Transketolase-like, pyrimidine-binding domain

Human Protein Atlas

ENSG00000083123

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

OrthoDB (Group)