• Gene id: 65985

Gene Summary

• Gene Symbol: AACS   Gene   UCSC   Ensembl
• Aliases: ACSF1, SUR-5
• Gene name: acetoacetyl-CoA synthetase
• Alternate names: acetoacetyl-CoA synthetase, acetoacetate-CoA ligase, acyl-CoA synthetase family member 1, homolog of C. elegans supressor of ras 5 (sur-5), protein sur-5 homolog,
• Gene location: 12q24.31 (125065434: 125143326)     Exons: 19     NC_000012.12
• OMIM: 614364

Protein Summary

• Protein general information: Q86V21  
  • Name: Acetoacetyl CoA synthetase (EC 6.2.1.16) (Acyl CoA synthetase family member 1) (Protein sur 5 homolog)
  • Length: 672  
  • Mass: 75144
  • Tissue specificity: Highly expressed in kidney, heart and brain, but low in liver. {ECO
• Sequence:

  MSKEERPGREEILECQVMWEPDSKKNTQMDRFRAAVGAACGLALESYDDLYHWSVESYSDFWAEFWKFSGIVFSR
  VYDEVVDTSKGIADVPEWFKGSRLNYAENLLRHKENDRVALYIAREGKEEIVKVTFEELRQEVALFAAAMRKMGV
  KKGDRVVGYLPNSEHAVEAMLAAASIGAIWSSTSPDFGVNGVLDRFSQIQPKLIFSVEAVVYNGKEHNHMEKLQQ
  VVKGLPDLKKVVVIPYVSSRENIDLSKIPNSVFLDDFLATGTSEQAPQLEFEQLPFSHPLFIMFSSGTTGAPKCM
  VHSAGGTLIQHLKEHLLHGNMTSSDILLCYTTVGWMMWNWMVSLLATGAAMVLYDGSPLVPTPNVLWDLVDRIGI
  TVLVTGAKWLSVLEEKAMKPVETHSLQMLHTILSTGSPLKAQSYEYVYRCIKSSILLGSISGGTDIISCFMGHNF
  SLPVYKGEIQARNLGMAVEAWNEEGKAVWGESGELVCTKPIPCQPTHFWNDENGNKYRKAYFSKFPGIWAHGDYC
  RINPKTGGIVMLGRSDGTLNPNGVRFGSSEIYNIVESFEEVEDSLCVPQYNKYREERVILFLKMASGHAFQPDLV
  KRIRDAIRMGLSARHVPSLILETKGIPYTLNGKKVEVAVKQIIAGKAVEQGGAFSNPETLDLYRDIPELQGF

• Structural information:
  • Interpro: IPR005914  IPR032387  IPR020845  IPR000873  IPR042099  
  • Prosite: PS00455
  • STRING: ENSP00000324842
• Other Databases: GeneCards:  AACS  Malacards:  AACS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0030729	acetoacetate-CoA ligase activity	IBA	molecular function
GO:0032024	positive regulation of insulin secretion	IBA	biological process
GO:0030729	acetoacetate-CoA ligase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0030729	acetoacetate-CoA ligase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0030729	acetoacetate-CoA ligase activity	TAS	molecular function
GO:0046951	ketone body biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071394	cellular response to testosterone stimulus	IEA	biological process
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0050872	white fat cell differentiation	IEA	biological process
GO:0047760	butyrate-CoA ligase activity	IEA	molecular function
GO:0045471	response to ethanol	IEA	biological process
GO:0042594	response to starvation	IEA	biological process
GO:0030729	acetoacetate-CoA ligase activity	IEA	molecular function
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0010243	response to organonitrogen compound	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0071397	cellular response to cholesterol	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0034201	response to oleic acid	IEA	biological process
GO:0032024	positive regulation of insulin secretion	IEA	biological process
GO:0014074	response to purine-containing compound	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0005829	cytosol	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00280	Valine, leucine and isoleucine degradation
hsa00650	Butanoate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq