OXCT1 information

OXCT1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3DLX
Identifiers
Aliases	OXCT1, OXCT, SCOT, 3-oxoacid CoA-transferase 1
External IDs	OMIM: 601424 MGI: 1914291 HomoloGene: 377 GeneCards: OXCT1
Gene location (Human)
Chr.	Chromosome 5 (human)
End	41,870,519 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	4,184,826 bp
RNA expression pattern
	Top expressed in
	right ventricle; ; endothelial cell; ; middle temporal gyrus; ; Achilles tendon; ; orbitofrontal cortex; ; Brodmann area 46; ; superior frontal gyrus; ; postcentral gyrus; ; tibia; ; prefrontal cortex;
	Top expressed in
	kidney; ; epithelium of stomach; ; myocardium of ventricle; ; medial dorsal nucleus; ; lateral geniculate nucleus; ; digastric muscle; ; hair follicle; ; ciliary body; ; intercostal muscle; ; right ventricle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; protein homodimerization activity; 3-oxoacid CoA-transferase activity; CoA-transferase activity;
Cellular component	mitochondrial matrix; mitochondrion; nucleoplasm;
Biological process	response to nutrient; response to activity; heart development; brain development; ketone body catabolic process; response to starvation; response to hormone; adipose tissue development; ketone catabolic process; positive regulation of insulin secretion involved in cellular response to glucose stimulus; metabolism; response to ethanol; cellular ketone body metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	5019
	67041
	ENSG00000083720
	ENSMUSG00000022186
	P55809
	Q9D0K2
	NM_000436
	NM_024188
NP_000427; NP_001351228; NP_001351229; NP_001351230; NP_001351231;
	NP_001351232
	NP_077150
	Wikidata
View/Edit Human	View/Edit Mouse

3-oxoacid CoA-transferase 1 (OXCT1) is an enzyme that in humans is encoded by the OXCT1 gene.^[5]^[6] It is also known as succinyl-CoA-3-oxaloacid CoA transferase (SCOT). Mutations in the OXCT1 gene are associated with succinyl-CoA:3-oxoacid CoA transferase deficiency.^[7] 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 (CoA) from succinyl-CoA to acetoacetate.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000083720 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022186 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Pérez-Cerdá C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA (September 1996). "Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient". American Journal of Human Genetics. 59 (3): 519–28. PMC 1914926. PMID 8751852.
^ ^a ^b "Entrez Gene: OXCT1 3-oxoacid CoA transferase 1".
^ Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y (July 2014). "Ketone body metabolism and its defects". Journal of Inherited Metabolic Disease. 37 (4): 541–51. doi:10.1007/s10545-014-9704-9. PMID 24706027. S2CID 21840932.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000083720 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022186 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8751852-5] Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Pérez-Cerdá C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA (September 1996). "Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient". American Journal of Human Genetics. 59 (3): 519–28. PMC 1914926. PMID 8751852.

[entrez-6] "Entrez Gene: OXCT1 3-oxoacid CoA transferase 1".

[7] Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y (July 2014). "Ketone body metabolism and its defects". Journal of Inherited Metabolic Disease. 37 (4): 541–51. doi:10.1007/s10545-014-9704-9. PMID 24706027. S2CID 21840932.

OXCT1 information

and 5 Related for: OXCT1 information

OXCT1

Coenzyme A transferases

Ketogenesis

Transferase

List of OMIM disorder codes