OXCT1
Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial
Also known as: OXCT, SCOT, SCOT1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P55809
- Gene
- OXCT1
- Ensembl
- ENSG00000083720
- Chromosome
- 5
- Canonical length
- 520 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Mitochondria
- Quaternary structure
- Homodimer
OverviewNCBI 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 from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
520 residues, UniProt reviewed canonical sequence.
>P55809|OXCT1
1 MAALKLLSSG LRLCASARGS GATWYKGCVC SFSTSAHRHT KFYTDPVEAV KDIPDGATVL
61 VGGFGLCGIP ENLIDALLKT GVKGLTAVSN NAGVDNFGLG LLLRSKQIKR MVSSYVGENA
121 EFERQYLSGE LEVELTPQGT LAERIRAGGA GVPAFYTPTG YGTLVQEGGS PIKYNKDGSV
181 AIASKPREVR EFNGQHFILE EAITGDFALV KAWKADRAGN VIFRKSARNF NLPMCKAAET
241 TVVEVEEIVD IGAFAPEDIH IPQIYVHRLI KGEKYEKRIE RLSIRKEGDG EAKSAKPGDD
301 VRERIIKRAA LEFEDGMYAN LGIGIPLLAS NFISPNITVH LQSENGVLGL GPYPRQHEAD
361 ADLINAGKET VTILPGASFF SSDESFAMIR GGHVDLTMLG AMQVSKYGDL ANWMIPGKMV
421 KGMGGAMDLV SSAKTKVVVT MEHSAKGNAH KIMEKCTLPL TGKQCVNRII TEKAVFDVDK
481 KKGLTLIELW EGLTVDDVQK STGCDFAVSP KLMPMQQIANLocalizationUniProt · AlphaFold · HPA
Whether an antibody against OXCT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 230 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 230 nTPM
- thymus: 72 nTPM
- cerebral cortex: 58 nTPM
- kidney: 50 nTPM
- adipose tissue: 50 nTPM
- parathyroid gland: 46 nTPM
Single-cell type
- epididymal clear cells: 535 nCPM
- parietal cells: 265 nCPM
- breast lactating cells: 197 nCPM
- cardiomyocytes: 141 nCPM
- respiratory ionocytes: 132 nCPM
- t-cells: 123 nCPM
Immune cell
- T-reg: 22 nTPM
- MAIT T-cell: 14 nTPM
- naive CD4 T-cell: 14 nTPM
- memory CD8 T-cell: 13 nTPM
- gdT-cell: 12 nTPM
- memory CD4 T-cell: 12 nTPM
Brain region
- cerebral cortex: 70 nTPM
- basal ganglia: 67 nTPM
- hippocampal formation: 54 nTPM
- hypothalamus: 52 nTPM
- thalamus: 50 nTPM
- white matter: 46 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about OXCT1.
Disease | AllUniProt
Conditions OXCT1 is implicated in, by any mechanism.
- Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) MIM:245050
Disease | GeneticClinVar
22 pathogenic / likely-pathogenic of 274 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Succinyl-CoA acetoacetate transferase deficiency
- OXCT1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.54
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.57
- DepMap mean gene effect
- 0.11
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adipose tissue development
- heart development
- ketone body catabolic process
- ketone body metabolic process
- positive regulation of insulin secretion involved in cellular response to glucose stimulus
- response to activity
- response to ethanol
- response to hormone
- response to nutrient
- response to starvation
- response to xenobiotic stimulus
- ketone catabolic process
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads OXCT1 as an antibody target. Whether an autoantibody or antibody against OXCT1 could matter depends on whether native OXCT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
OXCT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label OXCT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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