PDHA2
entrez
5161
canonical
uniprot
P29803
canonical
ensembl
ENSG00000163114
resolver
ensp
ENSP00000295266
resolver
enst
ENST00000295266
resolver
genesymbol
PDHA2
resolver
genesymbol_syn
PDHAL
resolver
hgnc
HGNC:8807
resolver
uniprot
B2R9Q3
resolver
uniprot
Q0VDI5
resolver
uniprot
Q4VC02
resolver
uniprot
Q6NXQ1
resolver
uniprot_entry
ODPAT_HUMAN
resolver
uniprot_sec
B2R9Q3
resolver
uniprot_sec
Q0VDI5
resolver
uniprot_sec
Q4VC02
resolver
uniprot_sec
Q6NXQ1
resolver
activity_regulation
ACTIVITY REGULATION: Pyruvate dehydrogenase activity is inhibited by phosphorylation of PDHA2; it is reactivated by dephosphorylation. {ECO:0000250|UniProtKB:P08559}.
uniprot
proteins
amino_acid_sequence
MLAAFISRVLRRVAQKSARRVLVASRNSSNDATFEIKKCDLYLLEEGPPVTTVLTRAEGLKYYRMMLTVRRMELKADQLYKQKFIRGFCHLCDGQEACCVGLEAGINPSDHVITSYRAHGVCYTRGLSVRSILAELTGRRGGCAKGKGGSMHMYTKNFYGGNGIVGAQGPLGAGIALACKYKGNDEICLTLYGDGAANQGQIAEAFNMAALWKLPCVFICENNLYGMGTSTERAAASPDYYKRGNFIPGLKVDGMDVLCVREATKFAANYCRSGKGPILMELQTYRYHGHSMSDPGVSYRTREEIQEVRSKRDPIIILQDRMVNSKLATVEELKEIGAEVRKEIDDAAQFATTDPEPHLEELGHHIYSSDSSFEVRGANPWIKFKSVS
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 70 (SPGF70) [MIM:619828]: An autosomal recessive male infertility disorder characterized by azoospermia, sperm immotility or necrozoospermia. Hypospermatogenesis and meiotic arrest have also been observed. {ECO:0000269|PubMed:29581481, ECO:0000269|PubMed:35172124}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.4.1
uniprot
proteins
function
FUNCTION: Together with PDHB forms the heterotetrameric E1 subunit of the pyruvate dehydrogenase (PDH) complex in testis (PubMed:14638692). 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:16436377). {ECO:0000269|PubMed:14638692, ECO:0000269|PubMed:16436377, ECO:0000305|PubMed:16436377}.
uniprot
proteins
mass_dalton
42933
uniprot
proteins
mutagenesis
MUTAGEN 230; /note="S->A: Slightly reduces enzyme activity."; /evidence="ECO:0000269|PubMed:16436377"; MUTAGEN 291; /note="S->A: Strongly reduces enzyme activity. Increases enzyme activity in stem cells."; /evidence="ECO:0000269|PubMed:16436377, ECO:0000269|PubMed:31536960"; MUTAGEN 291; /note="S->E,D: Abolishes enzyme activity. Increases neuronal cell death in response to glutamate excitotoxicity."; /evidence="ECO:0000269|PubMed:16436377, ECO:0000269|PubMed:31536960"; MUTAGEN 293; /note="S->A: Increases enzyme activity in stem cells."; /evidence="ECO:0000269|PubMed:31536960"; MUTAGEN 293; /note="S->D: Abolishes enzyme activity. Increases neuronal cell death in response to glutamate excitotoxicity."; /evidence="ECO:0000269|PubMed:31536960"; MUTAGEN 298; /note="S->A: Slightly reduces enzyme activity."; /evidence="ECO:0000269|PubMed:16436377
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-291, Ser-293 and Ser-298 by PDK family kinases inactivates the enzyme; for this phosphorylation at a single site is sufficient. Phosphorylation at Ser-293 interferes with access to active site, and thereby inactivates the enzyme. Dephosphorylation at all three sites, i.e. at Ser-291, Ser-293 and Ser-298, is required for reactivation. {ECO:0000269|PubMed:16436377}.
uniprot
proteins
pubmed
14638692
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16436377
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
2249846
uniprot
proteins
pubmed
22750801
uniprot
proteins
pubmed
29581481
uniprot
proteins
pubmed
31536960
uniprot
proteins
pubmed
35172124
uniprot
proteins
sequence_length
388
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:P26284}.
uniprot
proteins