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OXCT1 3-oxoacid CoA transferase 1 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000436 Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA. Full Length $1250.20
ORF Sequence $453.27


Gene Symbol OXCT1
Entrez Gene ID 5019
Full Name 3-oxoacid CoA transferase 1
Synonyms OXCT, SCOT
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5p13.1
Summary This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq].
Disorder

MIM: 601424

Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
mRNA NM_000436, 112382246
Protein NP_000427, 4557817
Product succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial precursor
RefSeq Status REVIEWED
KEGG
hsa00072Synthesis and degradation of ketone bodies
hsa00280Valine, leucine and isoleucine degradation
hsa00650Butanoate metabolism
WikiPathways
WP311Synthesis and Degradation of Ketone Bodies
Reactome
REACT_1861Ketone body metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_59Utilization of Ketone Bodies
REACT_22279Fatty acid, triacylglycerol, and ketone body metabolism
Homo sapiens (human)OXCT1NP_000427.1
Pan troglodytes (chimpanzee)OXCT1XP_001138029.1
Canis lupus familiaris (dog)OXCT1XP_536487.2
Bos taurus (cattle)OXCT1NP_001069538.1
Mus musculus (house mouse)Oxct1NP_077150.1
Rattus norvegicus (Norway rat)Oxct1XP_001073523.1
Gallus gallus (chicken)OXCT1NP_001006578.2
Danio rerio (zebrafish)oxct1aNP_001007292.1
Danio rerio (zebrafish)oxct1bNP_001070618.1
Drosophila melanogaster (fruit fly)CG1140NP_647683.1
Caenorhabditis elegansC05C10.3NP_496144.1
Process
IDNameEvidence
GO:0007420brain developmentIEA
GO:0007507heart developmentIEA
GO:0007584response to nutrientIEA
GO:0008152metabolic processIEA
GO:0009725response to hormone stimulusIEA
GO:0014823response to activityIEA
GO:0032024positive regulation of insulin secretionIEA
GO:0042493response to drugIEA
GO:0042594response to starvationIEA
GO:0044255cellular lipid metabolic processTAS
GO:0045471response to ethanolIEA
GO:0046950cellular ketone body metabolic processIMP
GO:0046950cellular ketone body metabolic processTAS
GO:0046952ketone body catabolic processTAS
GO:0060612adipose tissue developmentIEA
GO:0071229cellular response to acidIEA
GO:0071333cellular response to glucose stimulusIEA
Component
IDNameEvidence
GO:0005739mitochondrionIDA
GO:0005739mitochondrionNAS
GO:0005759mitochondrial matrixEXP
Function
IDNameEvidence
GO:00082603-oxoacid CoA-transferase activityEXP
GO:00082603-oxoacid CoA-transferase activityIMP
GO:0016740transferase activityIEA
GO:0042803protein homodimerization activityNAS
GeneCards OXCT1
PDB 3DLX
UniProt P55809
MIM 601424
Ensembl ENSG00000083720
HGNC 8527
HPRD 02001

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