OXCT1 (3-oxoacid CoA-transferase 1)

2014-06-01  

Identity

HGNC
OXCT1
LOCATION
5p13.1
LOCUSID
5019
ALIAS
OXCT,SCOT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5019
MIM: 601424
HGNC: 8527
Ensembl: ENSG00000083720

Variants:

dbSNP: 5019
ClinVar: 5019
TCGA: ENSG00000083720
COSMIC: OXCT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000083720ENST00000196371P55809
ENSG00000083720ENST00000196371A0A024R040
ENSG00000083720ENST00000509987E9PDW2
ENSG00000083720ENST00000510634P55809
ENSG00000083720ENST00000512084P55809

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Synthesis and degradation of ketone bodiesKEGGko00072
Valine, leucine and isoleucine degradationKEGGko00280
Butanoate metabolismKEGGko00650
Synthesis and degradation of ketone bodiesKEGGhsa00072
Valine, leucine and isoleucine degradationKEGGhsa00280
Butanoate metabolismKEGGhsa00650
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Ketone body metabolismREACTOMER-HSA-74182
Utilization of Ketone BodiesREACTOMER-HSA-77108

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
380422182024Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.1
381764152024OXCT1 functions as a succinyltransferase, contributing to hepatocellular carcinoma via succinylating LACTB.3
380422182024Identifying Acss1, Mtfp1 and Oxct1 as key regulators and promising biomarkers of sarcopenia in various models.1
381764152024OXCT1 functions as a succinyltransferase, contributing to hepatocellular carcinoma via succinylating LACTB.3
335964482021Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.6
335964482021Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.6
234202142013A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.11
234202142013A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.11
212966602011Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.11
217910852011Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.104
212966602011Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.11
217910852011Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.104
203810702010Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.29
206524112010A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.4
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

OXCT1 (3-oxoacid CoA-transferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53959