ACSM1 (acyl-CoA synthetase medium chain family member 1)

2008-12-01  

Identity

HGNC
LOCATION
16p12.3
LOCUSID
ALIAS
BUCS1,MACS1
FUSION GENES

Other Information

Locus ID:

NCBI: 116285
MIM: 614357
HGNC: 18049
Ensembl: ENSG00000166743

Variants:

dbSNP: 116285
ClinVar: 116285
TCGA: ENSG00000166743
COSMIC: ACSM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166743ENST00000307493Q08AH1
ENSG00000166743ENST00000519745Q08AH1
ENSG00000166743ENST00000520010Q08AH1
ENSG00000166743ENST00000523065E5RFK0
ENSG00000166743ENST00000524149H0YAU5

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10

Pathways

PathwaySourceExternal ID
Butanoate metabolismKEGGko00650
Butanoate metabolismKEGGhsa00650
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
Amino Acid conjugationREACTOMER-HSA-156587
Conjugation of carboxylic acidsREACTOMER-HSA-159424
Conjugation of benzoate with glycineREACTOMER-HSA-177135
Conjugation of phenylacetate with glutamineREACTOMER-HSA-177162

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
201851492010Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.70
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
18632593200815-prostaglandin dehydrogenase expression alone or in combination with ACSM1 defines a subgroup of the apocrine molecular subtype of breast carcinoma.15
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
256568052015Genetic association of ACSM1 variation with schizophrenia and major depressive disorder in the Han Chinese population.4
153617612004Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1, are associated with plasma high-density lipoprotein cholesterol levels, but they are not associated with essential hypertension.3
153617612004Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1, are associated with plasma high-density lipoprotein cholesterol levels, but they are not associated with essential hypertension.3

Citation

Dessen P

ACSM1 (acyl-CoA synthetase medium chain family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50520/acsm1