DBT
entrez
1629
canonical
uniprot
P11182
canonical
ensembl
ENSG00000137992
resolver
ensp
ENSP00000359151
resolver
ensp
ENSP00000505780
resolver
ensp
ENSP00000545521
resolver
enst
ENST00000370132
resolver
enst
ENST00000681780
resolver
enst
ENST00000875462
resolver
genesymbol
DBT
resolver
genesymbol_syn
BCATE2
resolver
genesymbol_syn
BCKDHE2
resolver
hgnc
HGNC:2698
resolver
uniprot
A0A7P0T9W1
resolver
uniprot
B2R811
resolver
uniprot
Q5VVL8
resolver
uniprot_entry
A0A7P0T9W1_HUMAN
resolver
uniprot_entry
ODB2_HUMAN
resolver
uniprot_sec
B2R811
resolver
uniprot_sec
Q5VVL8
resolver
amino_acid_sequence
MAAVRMLRTWSRNAGKLICVRYFQTCGNVHVLKPNYVCFFGYPSFKYSHPHHFLKTTAALRGQVVQFKLSDIGEGIREVTVKEWYVKEGDTVSQFDSICEVQSDKASVTITSRYDGVIKKLYYNLDDIAYVGKPLVDIETEALKDSEEDVVETPAVSHDEHTHQEIKGRKTLATPAVRRLAMENNIKLSEVVGSGKDGRILKEDILNYLEKQTGAILPPSPKVEIMPPPPKPKDMTVPILVSKPPVFTGKDKTEPIKGFQKAMVKTMSAALKIPHFGYCDEIDLTELVKLREELKPIAFARGIKLSFMPFFLKAASLGLLQFPILNASVDENCQNITYKASHNIGIAMDTEQGLIVPNVKNVQICSIFDIATELNRLQKLGSVSQLSTTDLTGGTFTLSNIGSIGGTFAKPVIMPPEVAIGALGSIKAIPRFNQKGEVYKAQIMNVSWSADHRVIDGATMSRFSNLWKSYLENPAFMLLDLK
uniprot
proteins
disease_involvement
DISEASE: Note=Patients with primary biliary cirrhosis (PBC) show autoantibodies against the E2 component of branched-chain alpha-keto acid dehydrogenase complex. PBC is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. {ECO:0000269|PubMed:2908870, ECO:0000269|PubMed:7543435, ECO:0000269|PubMed:9141421}.; DISEASE: Maple syrup urine disease 2 (MSUD2) [MIM:620699]: A form of maple syrup urine disease, an autosomal recessive metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. {ECO:0000269|PubMed:1847055, ECO:0000269|PubMed:9621512}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.168
uniprot
proteins
function
FUNCTION: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component. {ECO:0000250|UniProtKB:P11181}.
uniprot
proteins
mass_dalton
53517
uniprot
proteins
mutagenesis
MUTAGEN 105; /note="K->A: Abolishes lipoylation but retains normal interaction with PPM1K."; /evidence="ECO:0000269|PubMed:22291014"; MUTAGEN 147; /note="E->A: Has no effect on the interaction with PPM1K."; /evidence="ECO:0000269|PubMed:22291014"; MUTAGEN 148; /note="E->A: Completely abolishes the interaction with PPM1K."; /evidence="ECO:0000269|PubMed:22291014"; MUTAGEN 149; /note="D->A: Completely abolishes the interaction with PPM1K."; /evidence="ECO:0000269|PubMed:22291014"; MUTAGEN 152; /note="E->A: Has no effect on the interaction with PPM1K."; /evidence="ECO:0000269|PubMed:22291014"; MUTAGEN 159; /note="D->A: Has no effect on the interaction with PPM1K."; /evidence="ECO:0000269|PubMed:22291014
uniprot
proteins
protein_family
2-oxoacid dehydrogenase family
uniprot
proteins
pubmed
11839747
uniprot
proteins
pubmed
1420314
uniprot
proteins
pubmed
1429740
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
1847055
uniprot
proteins
pubmed
19411760
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22291014
uniprot
proteins
pubmed
22589535
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2708389
uniprot
proteins
pubmed
2742576
uniprot
proteins
pubmed
2837277
uniprot
proteins
pubmed
2908870
uniprot
proteins
pubmed
3245861
uniprot
proteins
pubmed
37558654
uniprot
proteins
pubmed
7543435
uniprot
proteins
pubmed
7918575
uniprot
proteins
pubmed
9141421
uniprot
proteins
pubmed
9621512
uniprot
proteins
sequence_length
482
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:P11181}.
uniprot
proteins