OXCT1 (3-oxoacid CoA-transferase 1)

2014-06-01  

Identity

HGNC
LOCATION
5p13.1
LOCUSID
ALIAS
OXCT,SCOT
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
217910852011Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.64
192960782009Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.42
203810702010Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
186481832008Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase.13
212966602011Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.7
234202142013A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.6
167656262006A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.5
117565652002Cloning and characterization of a human orthologue of testis-specific succinyl CoA: 3-oxo acid CoA transferase (Scot-t) cDNA.4
154966072004Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.4

Citation

Dessen P

OXCT1 (3-oxoacid CoA-transferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/53959/oxct1