BCKDHA
entrez
593
canonical
uniprot
P12694
canonical
ensembl
ENSG00000248098
resolver
ensp
ENSP00000269980
resolver
ensp
ENSP00000576480
resolver
genesymbol
BCKDHA
resolver
hgnc
HGNC:986
resolver
uniprot
B4DP47
resolver
uniprot
E7EW46
resolver
uniprot
Q16034
resolver
uniprot
Q16472
resolver
uniprot
Q59EI3
resolver
uniprot_entry
ODBA_HUMAN
resolver
uniprot_entry
Q59EI3_HUMAN
resolver
uniprot_sec
B4DP47
resolver
uniprot_sec
E7EW46
resolver
uniprot_sec
Q16034
resolver
uniprot_sec
Q16472
resolver
amino_acid_sequence
MAVAIAAARVWRLNRGLSQAALLLLRQPGARGLARSHPPRQQQQFSSLDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGEEGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRANANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRAVAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNLLFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK
uniprot
proteins
disease_involvement
DISEASE: Maple syrup urine disease 1A (MSUD1A) [MIM:248600]: 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:10745006, ECO:0000269|PubMed:1867199, ECO:0000269|PubMed:1885764, ECO:0000269|PubMed:2060625, ECO:0000269|PubMed:21844576, ECO:0000269|PubMed:2241958, ECO:0000269|PubMed:2703538, ECO:0000269|PubMed:7883996, ECO:0000269|PubMed:8037208, ECO:0000269|PubMed:8161368, ECO:0000269|PubMed:9582350}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.4.4
uniprot
proteins
function
FUNCTION: Together with BCKDHB 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. {ECO:0000269|PubMed:10745006, ECO:0000269|PubMed:7883996, ECO:0000269|PubMed:9582350}.
uniprot
proteins
mass_dalton
50471
uniprot
proteins
mutagenesis
MUTAGEN 337; /note="S->A: Substantially decreases the stability of the BCKD complex."; /evidence="ECO:0000269|PubMed:19411760"; MUTAGEN 347; /note="S->A: Does not affect the stability of the BCKD complex."; /evidence="ECO:0000269|PubMed:19411760
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Ser-337 by BCKDK and dephosphorylated by protein phosphatase PPM1K. {ECO:0000269|PubMed:19411760, ECO:0000269|PubMed:22589535}.
uniprot
proteins
protein_family
BCKDHA family
uniprot
proteins
pubmed
10745006
uniprot
proteins
pubmed
1420356
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1682165
uniprot
proteins
pubmed
1867199
uniprot
proteins
pubmed
1885764
uniprot
proteins
pubmed
19411760
uniprot
proteins
pubmed
2060625
uniprot
proteins
pubmed
21844576
uniprot
proteins
pubmed
2241958
uniprot
proteins
pubmed
22589535
uniprot
proteins
pubmed
2703538
uniprot
proteins
pubmed
2914958
uniprot
proteins
pubmed
3224821
uniprot
proteins
pubmed
7883996
uniprot
proteins
pubmed
7918575
uniprot
proteins
pubmed
8037208
uniprot
proteins
pubmed
8161368
uniprot
proteins
pubmed
9582350
uniprot
proteins
sequence_length
445
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:10745006}.
uniprot
proteins