• Gene id: 1384

Gene Summary

• Gene Symbol: CRAT   Gene   UCSC   Ensembl
• Aliases: CAT, CAT1, NBIA8
• Gene name: carnitine O-acetyltransferase
• Alternate names: carnitine O-acetyltransferase, carnitine acetylase,
• Gene location: 9q34.11 (129110792: 129094793)     Exons: 8     NC_000009.12
• Gene summary(Entrez): This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of a
• OMIM: 600184

Protein Summary

• Protein general information: P43155  
  • Name: Carnitine O acetyltransferase (Carnitine acetylase) (EC 2.3.1.7) (Carnitine acetyltransferase) (CAT) (CrAT)
  • Length: 626  
  • Mass: 70858
  • Tissue specificity: Mostly in skeletal muscle, less in heart, liver and pancreas, only weakly detectable in brain, placenta, lung and kidney.
• Sequence:

  MLAFAARTVVKPLGFLKPFSLMKASSRFKAHQDALPRLPVPPLQQSLDHYLKALQPIVSEEEWAHTKQLVDEFQA
  SGGVGERLQKGLERRARKTENWLSEWWLKTAYLQYRQPVVIYSSPGVMLPKQDFVDLQGQLRFAAKLIEGVLDFK
  VMIDNETLPVEYLGGKPLCMNQYYQILSSCRVPGPKQDTVSNFSKTKKPPTHITVVHNYQFFELDVYHSDGTPLT
  ADQIFVQLEKIWNSSLQTNKEPVGILTSNHRNSWAKAYNTLIKDKVNRDSVRSIQKSIFTVCLDATMPRVSEDVY
  RSHVAGQMLHGGGSRLNSGNRWFDKTLQFIVAEDGSCGLVYEHAAAEGPPIVTLLDYVIEYTKKPELVRSPLVPL
  PMPKKLRFNITPEIKSDIEKAKQNLSIMIQDLDITVMVFHHFGKDFPKSEKLSPDAFIQMALQLAYYRIYGQACA
  TYESASLRMFHLGRTDTIRSASMDSLTFVKAMDDSSVTEHQKVELLRKAVQAHRGYTDRAIRGEAFDRHLLGLKL
  QAIEDLVSMPDIFMDTSYAIAMHFHLSTSQVPAKTDCVMFFGPVVPDGYGVCYNPMEAHINFSLSAYNSCAETNA
  ARLAHYLEKALLDMRALLQSHPRAKL

• Structural information:
  • Interpro: IPR000542  IPR039551  IPR042232  IPR042231  
  • Prosite: PS00439 PS00440
  • PDB: 1NM8 1S5O
  • PDBsum: 1NM8 1S5O
  • STRING: ENSP00000315013
• Other Databases: GeneCards:  CRAT  Malacards:  CRAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019254	carnitine metabolic process, CoA-linked	IBA	biological process
GO:0005777	peroxisome	IBA	cellular component
GO:0004092	carnitine O-acetyltransferase activity	IBA	molecular function
GO:0051791	medium-chain fatty acid metabolic process	IDA	biological process
GO:0046459	short-chain fatty acid metabolic process	IDA	biological process
GO:0003997	acyl-CoA oxidase activity	IDA	molecular function
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	IDA	biological process
GO:0004092	carnitine O-acetyltransferase activity	IDA	molecular function
GO:0019254	carnitine metabolic process, CoA-linked	IDA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008458	carnitine O-octanoyltransferase activity	IEA	molecular function
GO:0004092	carnitine O-acetyltransferase activity	IEA	molecular function
GO:0004092	carnitine O-acetyltransferase activity	TAS	molecular function
GO:0004092	carnitine O-acetyltransferase activity	TAS	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0033540	fatty acid beta-oxidation using acyl-CoA oxidase	TAS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0019254	carnitine metabolic process, CoA-linked	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0004092	carnitine O-acetyltransferase activity	IDA	molecular function
GO:0004092	carnitine O-acetyltransferase activity	IDA	molecular function
GO:0019254	carnitine metabolic process, CoA-linked	IDA	biological process
GO:0005739	mitochondrion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Neurodegeneration with brain iron accumulation	KEGG:H00833
Neurodegeneration with brain iron accumulation	KEGG:H00833
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)
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