• Gene id: 55902

Gene Summary

• Gene Symbol: ACSS2   Gene   UCSC   Ensembl
• Aliases: ACAS2, ACECS, ACS, ACSA, AceCS1, dJ1161H23.1
• Gene name: acyl-CoA synthetase short chain family member 2
• Alternate names: acetyl-coenzyme A synthetase, cytoplasmic, acetate thiokinase, acetate-CoA ligase, acetyl-CoA synthetase 1, acetyl-Coenzyme A synthetase 2 (ADP forming), acyl-activating enzyme, cytoplasmic acetyl-coenzyme A synthetase, propionate--CoA ligase,
• Gene location: 20q11.22 (34874941: 34927965)     Exons: 22     NC_000020.11
• Gene summary(Entrez): This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is
• OMIM: 608384

Protein Summary

• Protein general information: Q9NR19  
  • Name: Acetyl coenzyme A synthetase, cytoplasmic (EC 6.2.1.1) (Acetate CoA ligase) (Acetyl CoA synthetase) (ACS) (AceCS) (Acetyl CoA synthetase 1) (AceCS1) (Acyl CoA synthetase short chain family member 2) (Acyl activating enzyme) (Propionate CoA ligase) (EC 6
  • Length: 701  
  • Mass: 78580
• Sequence:

  MGLPEERVRSGSGSRGQEEAGAGGRARSWSPPPEVSRSAHVPSLQRYRELHRRSVEEPREFWGDIAKEFYWKTPC
  PGPFLRYNFDVTKGKIFIEWMKGATTNICYNVLDRNVHEKKLGDKVAFYWEGNEPGETTQITYHQLLVQVCQFSN
  VLRKQGIQKGDRVAIYMPMIPELVVAMLACARIGALHSIVFAGFSSESLCERILDSSCSLLITTDAFYRGEKLVN
  LKELADEALQKCQEKGFPVRCCIVVKHLGRAELGMGDSTSQSPPIKRSCPDVQISWNQGIDLWWHELMQEAGDEC
  EPEWCDAEDPLFILYTSGSTGKPKGVVHTVGGYMLYVATTFKYVFDFHAEDVFWCTADIGWITGHSYVTYGPLAN
  GATSVLFEGIPTYPDVNRLWSIVDKYKVTKFYTAPTAIRLLMKFGDEPVTKHSRASLQVLGTVGEPINPEAWLWY
  HRVVGAQRCPIVDTFWQTETGGHMLTPLPGATPMKPGSATFPFFGVAPAILNESGEELEGEAEGYLVFKQPWPGI
  MRTVYGNHERFETTYFKKFPGYYVTGDGCQRDQDGYYWITGRIDDMLNVSGHLLSTAEVESALVEHEAVAEAAVV
  GHPHPVKGECLYCFVTLCDGHTFSPKLTEELKKQIREKIGPIATPDYIQNAPGLPKTRSGKIMRRVLRKIAQNDH
  DLGDMSTVADPSVISHLFSHRCLTIQ

• Structural information:
  • Interpro: IPR011904  IPR032387  IPR025110  IPR020845  IPR000873   IPR042099  
  • Prosite: PS00455
  • STRING: ENSP00000253382
• Other Databases: GeneCards:  ACSS2  Malacards:  ACSS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003987	acetate-CoA ligase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0050218	propionate-CoA ligase activity	ISS	molecular function
GO:0003987	acetate-CoA ligase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016208	AMP binding	IEA	molecular function
GO:0019427	acetyl-CoA biosynthetic process from acetate	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0050218	propionate-CoA ligase activity	IEA	molecular function
GO:0003987	acetate-CoA ligase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006069	ethanol oxidation	TAS	biological process
GO:0003987	acetate-CoA ligase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0003987	acetate-CoA ligase activity	IEA	molecular function
GO:0003987	acetate-CoA ligase activity	IEA	molecular function
GO:0050218	propionate-CoA ligase activity	IEA	molecular function
GO:0006085	acetyl-CoA biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0019542	propionate biosynthetic process	IEA	biological process
GO:0019413	acetate biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003987	acetate-CoA ligase activity	IDA	molecular function
GO:0005737	cytoplasm	IC	cellular component
GO:0016208	AMP binding	IC	molecular function
GO:0008610	lipid biosynthetic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00010	Glycolysis / Gluconeogenesis
hsa00620	Pyruvate metabolism
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa00640	Propanoate metabolism

Diseases

Associated diseases	References
Orofacial cleft	PMID:27229527
Orofacial cleft	PMID:28543373
morbid obesity	PMID:22384010
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