• Gene id: 79611

Gene Summary

• Gene Symbol: ACSS3   Gene   UCSC   Ensembl
• Gene name: acyl-CoA synthetase short chain family member 3
• Alternate names: acyl-CoA synthetase short-chain family member 3, mitochondrial, AMP-binding enzyme, 33217, acetate--CoA ligase 3, propionate--CoA ligase,
• Gene location: 12q21.31 (81078036: 81261209)     Exons: 19     NC_000012.12
• OMIM: 614356

Protein Summary

• Protein general information: Q9H6R3  
  • Name: Acyl CoA synthetase short chain family member 3, mitochondrial (EC 6.2.1.1) (Acetate CoA ligase 3) (Acyl CoA synthetase short chain family member 3) (Propionate CoA ligase) (EC 6.2.1.17)
  • Length: 686  
  • Mass: 74778
• Sequence:

  MKPSWLQCRKVTSAGGLGGPLPGSSPARGAGAALRALVVPGPRGGLGGRGCRALSSGSGSEYKTHFAASVTDPER
  FWGKAAEQISWYKPWTKTLENKHSPSTRWFVEGMLNICYNAVDRHIENGKGDKIAIIYDSPVTNTKATFTYKEVL
  EQVSKLAGVLVKHGIKKGDTVVIYMPMIPQAMYTMLACARIGAIHSLIFGGFASKELSSRIDHVKPKVVVTASFG
  IEPGRRVEYVPLVEEALKIGQHKPDKILIYNRPNMEAVPLAPGRDLDWDEEMAKAQSHDCVPVLSEHPLYILYTS
  GTTGLPKGVIRPTGGYAVMLHWSMSSIYGLQPGEVWWAASDLGWVVGHSYICYGPLLHGNTTVLYEGKPVGTPDA
  GAYFRVLAEHGVAALFTAPTAIRAIRQQDPGAALGKQYSLTRFKTLFVAGERCDVETLEWSKNVFRVPVLDHWWQ
  TETGSPITASCVGLGNSKTPPPGQAGKSVPGYNVMILDDNMQKLKARCLGNIVVKLPLPPGAFSGLWKNQEAFKH
  LYFEKFPGYYDTMDAGYMDEEGYLYVMSRVDDVINVAGHRISAGAIEESILSHGTVADCAVVGKEDPLKGHVPLA
  LCVLRKDINATEEQVLEEIVKHVRQNIGPVAAFRNAVFVKQLPKTRSGKIPRSALSAIVNGKPYKITSTIEDPSI
  FGHVEEMLKQA

• Structural information:
  • Interpro: IPR032387  IPR025110  IPR020845  IPR000873  IPR042099  
  • Prosite: PS00455
  • STRING: ENSP00000449535
• Other Databases: GeneCards:  ACSS3  Malacards:  ACSS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0050218	propionate-CoA ligase activity	IDA	molecular function
GO:0047760	butyrate-CoA ligase activity	ISS	molecular function
GO:0003987	acetate-CoA ligase activity	ISS	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0003987	acetate-CoA ligase activity	IEA	molecular function
GO:0050218	propionate-CoA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0003987	acetate-CoA ligase activity	TAS	molecular function
GO:0046951	ketone body biosynthetic process	TAS	biological process
GO:0003987	acetate-CoA ligase activity	IEA	molecular function
GO:0047760	butyrate-CoA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0050218	propionate-CoA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00640	Propanoate metabolism

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R