• Gene id: 10449

Gene Summary

• Gene Symbol: ACAA2   Gene   UCSC   Ensembl
• Aliases: DSAEC
• Gene name: acetyl-CoA acyltransferase 2
• Alternate names: 3-ketoacyl-CoA thiolase, mitochondrial, T1, acetyl-CoA acetyltransferase, acetyl-Coenzyme A acyltransferase 2, acyl-CoA hydrolase, mitochondrial, beta ketothiolase, mitochondrial 3-oxoacyl-CoA thiolase, mitochondrial 3-oxoacyl-Coenzyme A thiolase,
• Gene location: 18q21.1 (49813532: 49782163)     Exons: 10     NC_000018.10
• Gene summary(Entrez): The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]
• OMIM: 604770

Protein Summary

• Protein general information: P42765  
  • Name: 3 ketoacyl CoA thiolase, mitochondrial (EC 2.3.1.16) (Acetyl CoA acetyltransferase) (EC 2.3.1.9) (Acetyl CoA acyltransferase) (Acyl CoA hydrolase, mitochondrial) (EC 3.1.2. ) (EC 3.1.2.1) (EC 3.1.2.2) (Beta ketothiolase) (Mitochondrial 3 oxoacyl CoA thiol
  • Length: 397  
  • Mass: 41924
• Sequence:

  MALLRGVFVVAAKRTPFGAYGGLLKDFTATDLSEFAAKAALSAGKVSPETVDSVIMGNVLQSSSDAIYLARHVGL
  RVGIPKETPALTINRLCGSGFQSIVNGCQEICVKEAEVVLCGGTESMSQAPYCVRNVRFGTKLGSDIKLEDSLWV
  SLTDQHVQLPMAMTAENLAVKHKISREECDKYALQSQQRWKAANDAGYFNDEMAPIEVKTKKGKQTMQVDEHARP
  QTTLEQLQKLPPVFKKDGTVTAGNASGVADGAGAVIIASEDAVKKHNFTPLARIVGYFVSGCDPSIMGIGPVPAI
  SGALKKAGLSLKDMDLVEVNEAFAPQYLAVERSLDLDISKTNVNGGAIALGHPLGGSGSRITAHLVHELRRRGGK
  YAVGSACIGGGQGIAVIIQSTA

• Structural information:
  • Interpro: IPR002155  IPR016039  IPR020615  IPR020610  IPR020617   IPR020613  IPR020616  
  • Prosite: PS00098 PS00737 PS00099
  • CDD: cd00751
  • PDB: 4C2J 4C2K
  • PDBsum: 4C2J 4C2K
  • STRING: ENSP00000285093
• Other Databases: GeneCards:  ACAA2  Malacards:  ACAA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006635	fatty acid beta-oxidation	IBA	biological process
GO:0003988	acetyl-CoA C-acyltransferase activity	IBA	molecular function
GO:0003985	acetyl-CoA C-acetyltransferase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0003988	acetyl-CoA C-acyltransferase activity	IDA	molecular function
GO:0003985	acetyl-CoA C-acetyltransferase activity	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0047617	acyl-CoA hydrolase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0102991	myristoyl-CoA hydrolase activity	IEA	molecular function
GO:0003986	acetyl-CoA hydrolase activity	IEA	molecular function
GO:0003985	acetyl-CoA C-acetyltransferase activity	IEA	molecular function
GO:0003988	acetyl-CoA C-acyltransferase activity	IEA	molecular function
GO:0016290	palmitoyl-CoA hydrolase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0071456	cellular response to hypoxia	IDA	biological process
GO:1902109	negative regulation of mitochondrial membrane permeability involved in apoptotic process	IDA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:1901029	negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IDA	biological process
GO:0003988	acetyl-CoA C-acyltransferase activity	NAS	molecular function
GO:0005739	mitochondrion	NAS	cellular component
GO:0006695	cholesterol biosynthetic process	NAS	biological process
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation
hsa00062	Fatty acid elongation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881