DLST
entrez
1743
canonical
uniprot
P36957
canonical
ensembl
ENSG00000119689
resolver
ensp
ENSP00000335304
resolver
genesymbol
DLST
resolver
genesymbol_syn
DLTS
resolver
hgnc
HGNC:2911
resolver
uniprot
B7Z5W8
resolver
uniprot
B7Z6J1
resolver
uniprot
E7ESY5
resolver
uniprot
Q7LDY7
resolver
uniprot
Q9BQ32
resolver
uniprot_entry
B7Z6J1_HUMAN
resolver
uniprot_entry
ODO2_HUMAN
resolver
uniprot_sec
B7Z5W8
resolver
uniprot_sec
E7ESY5
resolver
uniprot_sec
Q7LDY7
resolver
uniprot_sec
Q9BQ32
resolver
amino_acid_sequence
MLSRSRCVSRAFSRSLSAFQKGNCPLGRRSLPGVSLCQGPGYPNSRKVVINNSVFSVRFFRTTAVCKDDLVTVKTPAFAESVTEGDVRWEKAVGDTVAEDEVVCEIETDKTSVQVPSPANGVIEALLVPDGGKVEGGTPLFTLRKTGAAPAKAKPAEAPAAAAPKAEPTAAAVPPPAAPIPTQMPPVPSPSQPPSGKPVSAVKPTVAPPLAEPGAGKGLRSEHREKMNRMRQRIAQRLKEAQNTCAMLTTFNEIDMSNIQEMRARHKEAFLKKHNLKLGFMSAFVKASAFALQEQPVVNAVIDDTTKEVVYRDYIDISVAVATPRGLVVPVIRNVEAMNFADIERTITELGEKARKNELAIEDMDGGTFTISNGGVFGSLFGTPIINPPQSAILGMHGIFDRPVAIGGKVEVRPMMYVALTYDHRLIDGREAVTFLRKIKAAVEDPRVLLLDL
uniprot
proteins
disease_involvement
DISEASE: Pheochromocytoma/paraganglioma syndrome 7 (PPGL7) [MIM:618475]: A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL7 tumors are generally benign, tend to be abdominal, and often secrete normetanephrine. PPGL7 inheritance is autosomal dominant. {ECO:0000269|PubMed:30929736}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.61
uniprot
proteins
function
FUNCTION: Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711, PubMed:30929736). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711). {ECO:0000269|PubMed:29211711, ECO:0000269|PubMed:30929736}.
uniprot
proteins
mass_dalton
48755
uniprot
proteins
mutagenesis
MUTAGEN 224..226; /note="REK->AEA: Reduced nuclear localization of the 2-oxoglutarate dehydrogenase complex. Reduced histone succinylation."; /evidence="ECO:0000269|PubMed:29211711"; MUTAGEN 424; /note="H->A: Loss of dihydrolipoyllysine-residue succinyltransferase activity."; /evidence="ECO:0000269|PubMed:30929736
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-lysine degradation via saccharopine pathway; glutaryl-CoA from L-lysine: step 6/6.; PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle. {ECO:0000269|PubMed:30929736}.
uniprot
proteins
protein_family
2-oxoacid dehydrogenase family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19892738
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29211711
uniprot
proteins
pubmed
30929736
uniprot
proteins
pubmed
32792488
uniprot
proteins
pubmed
8076640
uniprot
proteins
pubmed
8268217
uniprot
proteins
sequence_length
453
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:29211711}. Nucleus {ECO:0000269|PubMed:29211711}. Note=Mainly localizes in the mitochondrion. A small fraction localizes to the nucleus, where the 2-oxoglutarate dehydrogenase complex is required for histone succinylation. {ECO:0000269|PubMed:29211711}.
uniprot
proteins