PDHB
entrez
5162
canonical
uniprot
P11177
canonical
ensembl
ENSG00000168291
resolver
ensp
ENSP00000307241
resolver
ensp
ENSP00000373220
resolver
ensp
ENSP00000417267
resolver
genesymbol
PDHB
resolver
genesymbol_syn
PHE1B
resolver
hgnc
HGNC:8808
resolver
uniprot
A0A384MDR8
resolver
uniprot
B2R7L0
resolver
uniprot
B4DDD7
resolver
uniprot
Q6FH45
resolver
uniprot
Q9BQ27
resolver
uniprot
Q9UFK3
resolver
uniprot_entry
A0A384MDR8_HUMAN
resolver
uniprot_entry
ODPB_HUMAN
resolver
uniprot_sec
B2R7L0
resolver
uniprot_sec
B4DDD7
resolver
uniprot_sec
Q6FH45
resolver
uniprot_sec
Q9BQ27
resolver
uniprot_sec
Q9UFK3
resolver
amino_acid_sequence
MAAVSGLVRRPLREVSGLLKRRFHWTAPAALQVTVRDAINQGMDEELERDEKVFLLGEEVAQYDGAYKVSRGLWKKYGDKRIIDTPISEMGFAGIAVGAAMAGLRPICEFMTFNFSMQAIDQVINSAAKTYYMSGGLQPVPIVFRGPNGASAGVAAQHSQCFAAWYGHCPGLKVVSPWNSEDAKGLIKSAIRDNNPVVVLENELMYGVPFEFPPEAQSKDFLIPIGKAKIERQGTHITVVSHSRPVGHCLEAAAVLSKEGVECEVINMRTIRPMDMETIEASVMKTNHLVTVEGGWPQFGVGAEICARIMEGPAFNFLDAPAVRVTGADVPMPYAKILEDNSIPQVKDIIFAIKKTLNI
uniprot
proteins
disease_involvement
DISEASE: Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111]: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. {ECO:0000269|PubMed:15138885}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.4.1
uniprot
proteins
function
FUNCTION: Together with PDHA1 forms the heterotetrameric E1 subunit of the pyruvate dehydrogenase (PDH) complex (PubMed:17474719, PubMed:19081061). The PDH complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle (Probable). It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3) (Probable). The E1 subunit catalyzes both the thiamine pyrophosphate (TPP)-dependent decarboxylation of pyruvate and the reductive acetylation of a lipoyl group covalently linked to the lipoyl-bearing domains of E2 (PubMed:19081061). {ECO:0000269|PubMed:17474719, ECO:0000269|PubMed:19081061, ECO:0000305|PubMed:17474719, ECO:0000305|PubMed:19081061}.
uniprot
proteins
mass_dalton
39233
uniprot
proteins
mutagenesis
MUTAGEN 259; /note="E->A,Q: Does not affect interaction with DLAT."; /evidence="ECO:0000269|PubMed:20160912"; MUTAGEN 262; /note="E->A,Q: Does not affect interaction with DLAT."; /evidence="ECO:0000269|PubMed:20160912"; MUTAGEN 264; /note="E->A,Q: Does not affect interaction with DLAT."; /evidence="ECO:0000269|PubMed:20160912"; MUTAGEN 319; /note="D->A: Inhibits interaction with DLAT. Does not affect pyruvate decarboxylase activity. Loss of multienzyme pyruvate dehydrogenase complex activity."; /evidence="ECO:0000269|PubMed:20160912"; MUTAGEN 319; /note="D->N: Reduces interaction with DLAT. Reduces multienzyme pyruvate dehydrogenase complex activity. Does not affect pyruvate decarboxylase activity."; /evidence="ECO:0000269|PubMed:20160912"; MUTAGEN 359; /note="I->A: Reduces pyruvate decarboxylase and multienzyme pyruvate dehydrogenase complex activity. Does not affect interaction with DLAT."; /evidence="ECO:0000269|PubMed:20160912"; MUTAGEN 359; /note="Missing: Reduces pyruvate decarboxylase and multienzyme pyruvate dehydrogenase complex activity. Does not affect interaction with DLAT."; /evidence="ECO:0000269|PubMed:20160912
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12651851
uniprot
proteins
pubmed
14638692
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15138885
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
1702713
uniprot
proteins
pubmed
17474719
uniprot
proteins
pubmed
19081061
uniprot
proteins
pubmed
20160912
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2295468
uniprot
proteins
pubmed
2323578
uniprot
proteins
pubmed
2376596
uniprot
proteins
pubmed
2377599
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2829898
uniprot
proteins
pubmed
29970614
uniprot
proteins
pubmed
3422424
uniprot
proteins
pubmed
7895732
uniprot
proteins
sequence_length
359
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:P26284}.
uniprot
proteins