• Gene id: 116285

Gene Summary

• Gene Symbol: ACSM1   Gene   UCSC   Ensembl
• Aliases: BUCS1, MACS1
• Gene name: acyl-CoA synthetase medium chain family member 1
• Alternate names: acyl-coenzyme A synthetase ACSM1, mitochondrial, Butyrate CoA ligase, benzoate--CoA ligase, butyrate--CoA ligase 1, butyryl Coenzyme A synthetase 1, butyryl-coenzyme A synthetase 1, lipoate-activating enzyme, medium-chain acyl-CoA synthetase, middle-chain acyl-Co,
• Gene location: 16p12.3 (20697787: 20623234)     Exons: 18     NC_000016.10
• OMIM: 614666

Protein Summary

• Protein general information: Q08AH1  
  • Name: Acyl coenzyme A synthetase ACSM1, mitochondrial (EC 6.2.1.2) (Acyl CoA synthetase medium chain family member 1) (Benzoate CoA ligase) (EC 6.2.1.25) (Butyrate CoA ligase 1) (Butyryl coenzyme A synthetase 1) (Lipoate activating enzyme) (Middle chain acyl
  • Length: 577  
  • Mass: 65273
• Sequence:

  MQWLMRFRTLWGIHKSFHNIHPAPSQLRCRSLSEFGAPRWNDYEVPEEFNFASYVLDYWAQKEKEGKRGPNPAFW
  WVNGQGDEVKWSFREMGDLTRRVANVFTQTCGLQQGDHLALMLPRVPEWWLVAVGCMRTGIIFIPATILLKAKDI
  LYRLQLSKAKGIVTIDALASEVDSIASQCPSLKTKLLVSDHSREGWLDFRSLVKSASPEHTCVKSKTLDPMVIFF
  TSGTTGFPKMAKHSHGLALQPSFPGSRKLRSLKTSDVSWCLSDSGWIVATIWTLVEPWTAGCTVFIHHLPQFDTK
  VIIQTLLKYPINHFWGVSSIYRMILQQDFTSIRFPALEHCYTGGEVVLPKDQEEWKRRTGLLLYENYGQSETGLI
  CATYWGMKIKPGFMGKATPPYDVQVIDDKGSILPPNTEGNIGIRIKPVRPVSLFMCYEGDPEKTAKVECGDFYNT
  GDRGKMDEEGYICFLGRSDDIINASGYRIGPAEVESALVEHPAVAESAVVGSPDPIRGEVVKAFIVLTPQFLSHD
  KDQLTKELQQHVKSVTAPYKYPRKVEFVSELPKTITGKIERKELRKKETGQM

• Structural information:
  • Interpro: IPR025110  IPR020845  IPR000873  IPR042099  
  • Prosite: PS00455
  • STRING: ENSP00000301956
• Other Databases: GeneCards:  ACSM1  Malacards:  ACSM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004321	fatty-acyl-CoA synthase activity	IBA	molecular function
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0006637	acyl-CoA metabolic process	IBA	biological process
GO:0003996	acyl-CoA ligase activity	IBA	molecular function
GO:0006633	fatty acid biosynthetic process	IBA	biological process
GO:0015645	fatty acid ligase activity	IBA	molecular function
GO:0047760	butyrate-CoA ligase activity	IDA	molecular function
GO:0102391	decanoate-CoA ligase activity	IDA	molecular function
GO:0018858	benzoate-CoA ligase activity	IDA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0047760	butyrate-CoA ligase activity	IEA	molecular function
GO:0018858	benzoate-CoA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0006805	xenobiotic metabolic 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:0047760	butyrate-CoA ligase activity	IEA	molecular function
GO:0015645	fatty acid ligase activity	IEA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0102391	decanoate-CoA ligase activity	IEA	molecular function
GO:0018858	benzoate-CoA ligase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0042632	cholesterol homeostasis	NAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0047760	butyrate-CoA ligase activity	IDA	molecular function
GO:0003996	acyl-CoA ligase activity	IDA	molecular function
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0018874	benzoate metabolic process	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0019605	butyrate metabolic process	NAS	biological process
GO:0019395	fatty acid oxidation	NAS	biological process
GO:0015980	energy derivation by oxidation of organic compounds	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00650	Butanoate metabolism
hsa00785	Lipoic acid metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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