AACS (acetoacetyl-CoA synthetase)

2014-08-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
ACSF1,SUR-5
FUSION GENES

Other Information

Locus ID:

NCBI: 65985
MIM: 614364
HGNC: 21298
Ensembl: ENSG00000081760

Variants:

dbSNP: 65985
ClinVar: 65985
TCGA: ENSG00000081760
COSMIC: AACS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081760ENST00000316519Q86V21
ENSG00000081760ENST00000316519A0A024RBV2
ENSG00000081760ENST00000418937E7EW25

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Butanoate metabolismKEGGko00650
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
Synthesis of Ketone BodiesREACTOMER-HSA-77111

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
201023332010Transcriptional regulation of the human acetoacetyl-CoA synthetase gene by PPARgamma.4
309132802019Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation.1

Citation

Dessen P

AACS (acetoacetyl-CoA synthetase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54094/aacs