ACSF3 (acyl-CoA synthetase family member 3)

2012-06-01  

Identity

HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 197322
MIM: 614245
HGNC: 27288
Ensembl: ENSG00000176715

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176715ENST00000317447Q4G176
ENSG00000176715ENST00000378345F5H5A1
ENSG00000176715ENST00000406948Q4G176
ENSG00000176715ENST00000535176H0YGJ0
ENSG00000176715ENST00000537290F5GX20
ENSG00000176715ENST00000537895F5H3B2
ENSG00000176715ENST00000538340H0YH37
ENSG00000176715ENST00000540697F5H362
ENSG00000176715ENST00000541755H3BTS0
ENSG00000176715ENST00000542688F5H2G6
ENSG00000176715ENST00000543676H0YGC7
ENSG00000176715ENST00000544543F5H755
ENSG00000176715ENST00000614302Q4G176
ENSG00000176715ENST00000649953A0A3B3ISK9

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Valine, leucine and isoleucine degradationKEGGhsa00280
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105
Synthesis of very long-chain fatty acyl-CoAsREACTOMER-HSA-75876

References

Pubmed IDYearTitleCitations
302012892019Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism.22
307407392019Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.15
313764762019The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism.8
302012892019Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism.22
307407392019Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.15
313764762019The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism.8
284792962017The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency.38
284792962017The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency.38
233379552013Analysis of differentially expressed genes and microRNAs in alcoholic liver disease.21
233379552013Analysis of differentially expressed genes and microRNAs in alcoholic liver disease.21
224200282012The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype.12
224200282012The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype.12
217851262011Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.19
218417792011Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.44
218467202011Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis.35

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