DLAT
entrez
1737
canonical
uniprot
P10515
canonical
ensembl
ENSG00000150768
resolver
ensp
ENSP00000280346
resolver
ensp
ENSP00000376771
resolver
ensp
ENSP00000433432
resolver
ensp
ENSP00000505567
resolver
ensp
ENSP00000505915
resolver
ensp
ENSP00000506007
resolver
ensp
ENSP00000506167
resolver
ensp
ENSP00000506355
resolver
ensp
ENSP00000506560
resolver
ensp
ENSP00000506707
resolver
ensp
ENSP00000518862
resolver
ensp
ENSP00000543957
resolver
ensp
ENSP00000585716
resolver
enst
ENST00000280346
resolver
enst
ENST00000393051
resolver
enst
ENST00000531306
resolver
enst
ENST00000679878
resolver
enst
ENST00000680331
resolver
enst
ENST00000681316
resolver
enst
ENST00000681328
resolver
enst
ENST00000681339
resolver
enst
ENST00000713569
resolver
genesymbol
DLAT
resolver
genesymbol_syn
DLTA
resolver
hgnc
HGNC:2896
resolver
uniprot
A0A7P0T997
resolver
uniprot
A0A7P0TAG1
resolver
uniprot
A0A7P0TAX2
resolver
uniprot
A0A7P0TBE2
resolver
uniprot
A0A7P0TBK2
resolver
uniprot
E9PEJ4
resolver
uniprot
H0YDD4
resolver
uniprot
Q16783
resolver
uniprot
Q53EP3
resolver
uniprot
Q86YI5
resolver
uniprot_entry
A0A7P0T997_HUMAN
resolver
uniprot_entry
A0A7P0TAG1_HUMAN
resolver
uniprot_entry
A0A7P0TAX2_HUMAN
resolver
uniprot_entry
A0A7P0TBE2_HUMAN
resolver
uniprot_entry
A0A7P0TBK2_HUMAN
resolver
uniprot_entry
E9PEJ4_HUMAN
resolver
uniprot_entry
H0YDD4_HUMAN
resolver
uniprot_entry
ODP2_HUMAN
resolver
uniprot_entry
Q86YI5_HUMAN
resolver
uniprot_sec
Q16783
resolver
uniprot_sec
Q53EP3
resolver
amino_acid_sequence
MWRVCARRAQNVAPWAGLEARWTALQEVPGTPRVTSRSGPAPARRNSVTTGYGGVRALCGWTPSSGATPRNRLLLQLLGSPGRRYYSLPPHQKVPLPSLSPTMQAGTIARWEKKEGDKINEGDLIAEVETDKATVGFESLEECYMAKILVAEGTRDVPIGAIICITVGKPEDIEAFKNYTLDSSAAPTPQAAPAPTPAATASPPTPSAQAPGSSYPPHMQVLLPALSPTMTMGTVQRWEKKVGEKLSEGDLLAEIETDKATIGFEVQEEGYLAKILVPEGTRDVPLGTPLCIIVEKEADISAFADYRPTEVTDLKPQVPPPTPPPVAAVPPTPQPLAPTPSAPCPATPAGPKGRVFVSPLAKKLAVEKGIDLTQVKGTGPDGRITKKDIDSFVPSKVAPAPAAVVPPTGPGMAPVPTGVFTDIPISNIRRVIAQRLMQSKQTIPHYYLSIDVNMGEVLLVRKELNKILEGRSKISVNDFIIKASALACLKVPEANSSWMDTVIRQNHVVDVSVAVSTPAGLITPIVFNAHIKGVETIANDVVSLATKAREGKLQPHEFQGGTFTISNLGMFGIKNFSAIINPPQACILAIGASEDKLVPADNEKGFDVASMMSVTLSCDHRVVDGAVGAQWLAEFRKYLEKPITMLL
uniprot
proteins
disease_involvement
DISEASE: Note=Primary biliary cirrhosis 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. Patients with primary biliary cirrhosis show autoantibodies against the E2 component of pyruvate dehydrogenase complex. {ECO:0000269|PubMed:3174635}.; DISEASE: Pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:245348]: Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent. {ECO:0000269|PubMed:16049940}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.12
uniprot
proteins
function
FUNCTION: The pyruvate dehydrogenase (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). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acetyl groups from acetyl-lipoyl moiety generated by the pyruvate dehydrogenase, leading to acetyl-CoA formation (Probable). {ECO:0000305|PubMed:20160912}.
uniprot
proteins
mass_dalton
68997
uniprot
proteins
post_translational_modification
PTM: Delipoylated at Lys-132 and Lys-259 by SIRT4, delipoylation decreases the PHD complex activity. {ECO:0000269|PubMed:25525879}.
uniprot
proteins
protein_family
2-oxoacid dehydrogenase family
uniprot
proteins
pubmed
14638692
uniprot
proteins
pubmed
15861126
uniprot
proteins
pubmed
16049940
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17532006
uniprot
proteins
pubmed
17683942
uniprot
proteins
pubmed
18387944
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20160912
uniprot
proteins
pubmed
20361979
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25525879
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3174635
uniprot
proteins
pubmed
3191998
uniprot
proteins
pubmed
9649469
uniprot
proteins
sequence_length
647
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:P08461}.
uniprot
proteins