Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5019
Gene name Gene Name - the full gene name approved by the HGNC.
3-oxoacid CoA-transferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OXCT1
Synonyms (NCBI Gene) Gene synonyms aliases
OXCT, SCOT
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs75134564 G>A Likely-benign, pathogenic, benign Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs76956231 G>A Benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant
rs121909299 G>C Pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs121909300 C>A Pathogenic Missense variant, non coding transcript variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs121909301 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020769 hsa-miR-155-5p Proteomics 18668040
MIRT023755 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT029445 hsa-miR-26b-5p Microarray 19088304
MIRT048474 hsa-miR-100-5p CLASH 23622248
MIRT1208482 hsa-miR-1305 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 11756565
GO:0005739 Component Mitochondrion NAS 10964512
GO:0005759 Component Mitochondrial matrix TAS
GO:0007420 Process Brain development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601424 8527 ENSG00000083720
Protein
UniProt ID P55809
Protein name Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial (SCOT) (EC 2.8.3.5) (3-oxoacid CoA-transferase 1) (Somatic-type succinyl-CoA:3-oxoacid CoA-transferase) (SCOT-s) (Succinyl-CoA:3-oxoacid CoA transferase)
Protein 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 (acetoa
PDB 3DLX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01144 CoA_trans 43 272 Coenzyme A transferase Domain
PF01144 CoA_trans 302 501 Coenzyme A transferase Domain
Tissue specificity TISSUE SPECIFICITY: Abundant in heart, followed in order by brain, kidney, skeletal muscle, and lung, whereas in liver it is undetectable. Expressed (at protein level) in all tissues (except in liver), most abundant in myocardium, then brain, kidney, adre
Sequence
Sequence length 520
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Valine, leucine and isoleucine degradation
Butanoate metabolism
Metabolic pathways
  Utilization of Ketone Bodies
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Osteoporosis Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 18924182
Succinyl-coa acetoacetate transferase deficiency Succinyl-CoA:3-oxoacid CoA transferase deficiency rs121909299, rs121909300, rs121909301, rs121909302, rs1561081472, rs202242762, rs1561128268, rs1327401976, rs1579903197, rs1579884900 9671268, 10964512, 21296660, 31216074, 23420214
Unknown
Disease term Disease name Evidence References Source
Succinyl-CoA Acetoacetate Transferase Deficiency succinyl-CoA:3-ketoacid CoA transferase deficiency GenCC
Bipolar Disorder Bipolar Disorder GWAS
Ketonuria Ketonuria GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35482822
Aortic Aneurysm Thoracic Inhibit 37193023
Aortic Dissection Associate 37193023
Carcinoma Hepatocellular Associate 36308411, 38176415
Carcinoma Non Small Cell Lung Associate 35482822
Diabetes Mellitus Associate 19296078
Diabetes Mellitus Type 2 Associate 19296078
Diabetic Cardiomyopathies Associate 38160540
Dissection Thoracic Aorta Inhibit 37193023
Hepatoblastoma Associate 39684755