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

2008-12-01 Affiliation

Identity

HGNC

ACSM1

LOCATION

16p12.3

LOCUSID

116285

ALIAS

BUCS1,MACS1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000166743	ENST00000307493	Q08AH1
ENSG00000166743	ENST00000519745	Q08AH1
ENSG00000166743	ENST00000520010	Q08AH1
ENSG00000166743	ENST00000523065	E5RFK0
ENSG00000166743	ENST00000524149	H0YAU5

Expression (GTEx)

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

Pathway	Source	External ID
Butanoate metabolism	KEGG	ko00650
Butanoate metabolism	KEGG	hsa00650
Metabolic pathways	KEGG	hsa01100
Metabolism	REACTOME	R-HSA-1430728
Biological oxidations	REACTOME	R-HSA-211859
Phase II conjugation	REACTOME	R-HSA-156580
Amino Acid conjugation	REACTOME	R-HSA-156587
Conjugation of carboxylic acids	REACTOME	R-HSA-159424
Conjugation of benzoate with glycine	REACTOME	R-HSA-177135
Conjugation of phenylacetate with glutamine	REACTOME	R-HSA-177162

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
25656805	2015	Genetic association of ACSM1 variation with schizophrenia and major depressive disorder in the Han Chinese population.	7
25656805	2015	Genetic association of ACSM1 variation with schizophrenia and major depressive disorder in the Han Chinese population.	7
20185149	2010	Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.	89
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20679960	2010	Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.	13
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20185149	2010	Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.	89
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20679960	2010	Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.	13
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	105
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	105
18632593	2008	15-prostaglandin dehydrogenase expression alone or in combination with ACSM1 defines a subgroup of the apocrine molecular subtype of breast carcinoma.	17
18632593	2008	15-prostaglandin dehydrogenase expression alone or in combination with ACSM1 defines a subgroup of the apocrine molecular subtype of breast carcinoma.	17
15361761	2004	Two 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.	5

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