• Gene id: 84532

Gene Summary

• Gene Symbol: ACSS1   Gene   UCSC   Ensembl
• Aliases: ACAS2L, ACECS1, AceCS2L
• Gene name: acyl-CoA synthetase short chain family member 1
• Alternate names: acetyl-coenzyme A synthetase 2-like, mitochondrial, acetate--CoA ligase 2, propionate--CoA ligase,
• Gene location: 20p11.21 (25058181: 25006229)     Exons: 15     NC_000020.11
• Gene summary(Entrez): This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding mul
• OMIM: 615258

Protein Summary

• Protein general information: Q9NUB1  
  • Name: Acetyl coenzyme A synthetase 2 like, mitochondrial (EC 6.2.1.1) (Acetate CoA ligase 2) (Acetyl CoA synthetase 2) (AceCS2) (Acyl CoA synthetase short chain family member 1) (Propionate CoA ligase) (EC 6.2.1.17)
  • Length: 689  
  • Mass: 74857
• Sequence:

  MAARTLGRGVGRLLGSLRGLSGQPARPPCGVSAPRRAASGPSGSAPAVAAAAAQPGSYPALSAQAAREPAAFWGP
  LARDTLVWDTPYHTVWDCDFSTGKIGWFLGGQLNVSVNCLDQHVRKSPESVALIWERDEPGTEVRITYRELLETT
  CRLANTLKRHGVHRGDRVAIYMPVSPLAVAAMLACARIGAVHTVIFAGFSAESLAGRINDAKCKVVITFNQGLRG
  GRVVELKKIVDEAVKHCPTVQHVLVAHRTDNKVHMGDLDVPLEQEMAKEDPVCAPESMGSEDMLFMLYTSGSTGM
  PKGIVHTQAGYLLYAALTHKLVFDHQPGDIFGCVADIGWITGHSYVVYGPLCNGATSVLFESTPVYPNAGRYWET
  VERLKINQFYGAPTAVRLLLKYGDAWVKKYDRSSLRTLGSVGEPINCEAWEWLHRVVGDSRCTLVDTWWQTETGG
  ICIAPRPSEEGAEILPAMAMRPFFGIVPVLMDEKGSVVEGSNVSGALCISQAWPGMARTIYGDHQRFVDAYFKAY
  PGYYFTGDGAYRTEGGYYQITGRMDDVINISGHRLGTAEIEDAIADHPAVPESAVIGYPHDIKGEAAFAFIVVKD
  SAGDSDVVVQELKSMVATKIAKYAVPDEILVVKRLPKTRSGKVMRRLLRKIITSEAQELGDTTTLEDPSIIAEIL
  SVYQKCKDKQAAAK

• Structural information:
  • Interpro: IPR011904  IPR032387  IPR025110  IPR020845  IPR000873   IPR042099  
  • Prosite: PS00455
  • PDB: 3GLR 3GLT 3GLU 4BVE 4BVF 4BVG 4C78 5Y4H 5YTK
  • PDBsum: 3GLR 3GLT 3GLU 4BVE 4BVF 4BVG 4C78 5Y4H 5YTK
  • DIP: 61208
  • STRING: ENSP00000316924
• Other Databases: GeneCards:  ACSS1  Malacards:  ACSS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003987	acetate-CoA ligase activity	IDA	molecular function
GO:0006085	acetyl-CoA biosynthetic process	IDA	biological process
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0050218	propionate-CoA ligase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	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:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0050218	propionate-CoA ligase activity	IEA	molecular function
GO:0003987	acetate-CoA ligase activity	IEA	molecular function
GO:0003987	acetate-CoA ligase activity	EXP	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006069	ethanol oxidation	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:0003987	acetate-CoA ligase activity	IEA	molecular function
GO:0003987	acetate-CoA ligase activity	IEA	molecular function
GO:0019542	propionate biosynthetic process	IEA	biological process
GO:0019413	acetate biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0050218	propionate-CoA ligase activity	IEA	molecular function
GO:0006085	acetyl-CoA biosynthetic process	IEA	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component

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
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq