ACSF3 (acyl-CoA synthetase family member 3)

2012-06-01 Affiliation

Identity

HGNC

ACSF3

LOCATION

16q24.3

LOCUSID

197322

ALIAS

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: 197322
MIM: 614245
HGNC: 27288
Ensembl: ENSG00000176715

Variants:

dbSNP: 197322
ClinVar: 197322
TCGA: ENSG00000176715
COSMIC: ACSF3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000176715	ENST00000317447	Q4G176
ENSG00000176715	ENST00000378345	F5H5A1
ENSG00000176715	ENST00000406948	Q4G176
ENSG00000176715	ENST00000535176	H0YGJ0
ENSG00000176715	ENST00000537290	F5GX20
ENSG00000176715	ENST00000537895	F5H3B2
ENSG00000176715	ENST00000538340	H0YH37
ENSG00000176715	ENST00000540697	F5H362
ENSG00000176715	ENST00000541755	H3BTS0
ENSG00000176715	ENST00000542688	F5H2G6
ENSG00000176715	ENST00000543676	H0YGC7
ENSG00000176715	ENST00000544543	F5H755
ENSG00000176715	ENST00000614302	Q4G176
ENSG00000176715	ENST00000649953	A0A3B3ISK9

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
Valine, leucine and isoleucine degradation	KEGG	ko00280
Valine, leucine and isoleucine degradation	KEGG	hsa00280
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Triglyceride Biosynthesis	REACTOME	R-HSA-75109
Fatty Acyl-CoA Biosynthesis	REACTOME	R-HSA-75105
Synthesis of very long-chain fatty acyl-CoAs	REACTOME	R-HSA-75876

References

Pubmed ID	Year	Title	Citations
21841779	2011	Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.	25
21846720	2011	Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
28479296	2017	The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency.	15
21785126	2011	Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.	12
22420028	2012	The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype.	9
23337955	2013	Analysis of differentially expressed genes and microRNAs in alcoholic liver disease.	9
30740739	2019	Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.	3
31376476	2019	The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism.	1
30201289	2019	Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism.	0

Citation

Dessen P

ACSF3 (acyl-CoA synthetase family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52750/acsf3