• Gene id: 197322

Gene Summary

• Gene Symbol: ACSF3   Gene   UCSC   Ensembl
• Gene name: acyl-CoA synthetase family member 3
• Alternate names: malonate--CoA ligase ACSF3, mitochondrial, acyl-CoA synthetase family member 3, mitochondrial, malonyl-CoA synthetase,
• Gene location: 16q24.3 (89093846: 89160555)     Exons: 18     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity

Protein Summary

• Protein general information: Q4G176  
  • Name: Malonate CoA ligase ACSF3, mitochondrial (EC 6.2.1.n3) (Acyl CoA synthetase family member 3)
  • Length: 576  
  • Mass: 64130
• Sequence:

  MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRS
  LRLSQEICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQ
  EYLELLSPVVRKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTG
  LVHKWAWTKDDVILHVLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKL
  MEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERYGMTEIGMALSGPLTTAVRLP
  GSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLD
  GWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREG
  HSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS

• Structural information:
  • Interpro: IPR025110  IPR020845  IPR000873  IPR042099  
  • Prosite: PS00455
  • STRING: ENSP00000479130
• Other Databases: GeneCards:  ACSF3  Malacards:  ACSF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006633	fatty acid biosynthetic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0016405	CoA-ligase activity	IBA	molecular function
GO:0031957	very long-chain fatty acid-CoA ligase activity	IBA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0031957	very long-chain fatty acid-CoA ligase activity	IDA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0031957	very long-chain fatty acid-CoA ligase activity	TAS	molecular function
GO:0035338	long-chain fatty-acyl-CoA biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006631	fatty acid metabolic process	IDA	biological process
GO:0016878	acid-thiol ligase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0090410	malonate catabolic process	IDA	biological process
GO:0090409	malonyl-CoA synthetase activity	IDA	molecular function
GO:0006633	fatty acid biosynthetic process	IDA	biological process
GO:0090410	malonate catabolic process	IDA	biological process
GO:0090409	malonyl-CoA synthetase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00061	Fatty acid biosynthesis

Diseases

Associated diseases	References
Combined malonic and methylmalonic aciduria	KEGG:H02109
Combined malonic and methylmalonic aciduria	KEGG:H02109
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray