OXCT1
entrez
5019
canonical
uniprot
P55809
canonical
ensembl
ENSG00000083720
resolver
ensp
ENSP00000196371
resolver
ensp
ENSP00000425348
resolver
ensp
ENSP00000569797
resolver
ensp
ENSP00000667798
resolver
enst
ENST00000509987
resolver
genesymbol
OXCT1
resolver
genesymbol_syn
OXCT
resolver
genesymbol_syn
SCOT
resolver
hgnc
HGNC:8527
resolver
uniprot
A0A024R040
resolver
uniprot
B2R5V2
resolver
uniprot
B7Z528
resolver
uniprot
E9PDW2
resolver
uniprot_entry
A0A024R040_HUMAN
resolver
uniprot_entry
E9PDW2_HUMAN
resolver
uniprot_entry
SCOT1_HUMAN
resolver
uniprot_sec
B2R5V2
resolver
uniprot_sec
B7Z528
resolver
amino_acid_sequence
MAALKLLSSGLRLCASARGSGATWYKGCVCSFSTSAHRHTKFYTDPVEAVKDIPDGATVLVGGFGLCGIPENLIDALLKTGVKGLTAVSNNAGVDNFGLGLLLRSKQIKRMVSSYVGENAEFERQYLSGELEVELTPQGTLAERIRAGGAGVPAFYTPTGYGTLVQEGGSPIKYNKDGSVAIASKPREVREFNGQHFILEEAITGDFALVKAWKADRAGNVIFRKSARNFNLPMCKAAETTVVEVEEIVDIGAFAPEDIHIPQIYVHRLIKGEKYEKRIERLSIRKEGDGEAKSAKPGDDVRERIIKRAALEFEDGMYANLGIGIPLLASNFISPNITVHLQSENGVLGLGPYPRQHEADADLINAGKETVTILPGASFFSSDESFAMIRGGHVDLTMLGAMQVSKYGDLANWMIPGKMVKGMGGAMDLVSSAKTKVVVTMEHSAKGNAHKIMEKCTLPLTGKQCVNRIITEKAVFDVDKKKGLTLIELWEGLTVDDVQKSTGCDFAVSPKLMPMQQIAN
uniprot
proteins
disease_involvement
DISEASE: Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]: A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes. {ECO:0000269|PubMed:10964512, ECO:0000269|PubMed:21296660, ECO:0000269|PubMed:31073471, ECO:0000269|PubMed:33596448, ECO:0000269|PubMed:9671268}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.8.3.5
uniprot
proteins
function
FUNCTION: Key enzyme for ketone body catabolism. Catalyzes the first, rate-limiting step of ketone body utilization in extrahepatic tissues, by transferring coenzyme A (CoA) from a donor thiolester species (succinyl-CoA) to an acceptor carboxylate (acetoacetate), and produces acetoacetyl-CoA. Acetoacetyl-CoA is further metabolized by acetoacetyl-CoA thiolase into two acetyl-CoA molecules which enter the citric acid cycle for energy production (PubMed:10964512). Forms a dimeric enzyme where both of the subunits are able to form enzyme-CoA thiolester intermediates, but only one subunit is competent to transfer the CoA moiety to the acceptor carboxylate (3-oxo acid) and produce a new acyl-CoA. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate (By similarity). {ECO:0000250|UniProtKB:Q29551, ECO:0000269|PubMed:10964512}.
uniprot
proteins
mass_dalton
56158
uniprot
proteins
pathway_participation
PATHWAY: Ketone metabolism; succinyl-CoA degradation; acetoacetyl-CoA from succinyl-CoA: step 1/1. {ECO:0000305|PubMed:10964512}.
uniprot
proteins
protein_family
3-oxoacid CoA-transferase family
uniprot
proteins
pubmed
10964512
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21296660
uniprot
proteins
pubmed
23420214
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31073471
uniprot
proteins
pubmed
33596448
uniprot
proteins
pubmed
8751852
uniprot
proteins
pubmed
9380443
uniprot
proteins
pubmed
9671268
uniprot
proteins
sequence_length
520
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:B2GV06}.
uniprot
proteins