ACSM3 (acyl-CoA synthetase medium chain family member 3)

2018-11-01  

Identity

HGNC
LOCATION
16p12.3
LOCUSID
ALIAS
SA,SAH
FUSION GENES

Other Information

Locus ID:

NCBI: 6296
MIM: 145505
HGNC: 10522
Ensembl: ENSG00000005187

Variants:

dbSNP: 6296
ClinVar: 6296
TCGA: ENSG00000005187
COSMIC: ACSM3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005187ENST00000289416Q53FZ2
ENSG00000005187ENST00000440284Q53FZ2
ENSG00000005187ENST00000561584H3BR33
ENSG00000005187ENST00000561795H3BVD5
ENSG00000005187ENST00000562251H3BSM0
ENSG00000005187ENST00000563914H3BV29
ENSG00000005187ENST00000564701H3BTG0
ENSG00000005187ENST00000568235H3BT38
ENSG00000005187ENST00000569141H3BUF2

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Butanoate metabolismKEGGko00650
Butanoate metabolismKEGGhsa00650
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289
mitochondrial fatty acid beta-oxidation of saturated fatty acidsREACTOMER-HSA-77286
Beta oxidation of butanoyl-CoA to acetyl-CoAREACTOMER-HSA-77352

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
219874872012Impaired butyrate oxidation in ulcerative colitis is due to decreased butyrate uptake and a defect in the oxidation pathway.24
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
206799602010Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.8
195787962009Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.7
117728742002Association between SAH, an acyl-CoA synthetase gene, and hypertriglyceridemia, obesity, and hypertension.5
170704282006Assessment of the genetic component of hypertension.4

Citation

Dessen P

ACSM3 (acyl-CoA synthetase medium chain family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57676/acsm3-(acyl-coa-synthetase-medium-chain-family-member-3)