• Gene id: 1374

Gene Summary

• Gene Symbol: CPT1A   Gene   UCSC   Ensembl
• Aliases: CPT1, CPT1-L, L-CPT1
• Gene name: carnitine palmitoyltransferase 1A
• Alternate names: carnitine O-palmitoyltransferase 1, liver isoform, CPT I, CPTI-L, carnitine O-palmitoyltransferase I, liver isoform, carnitine palmitoyltransferase 1A (liver), carnitine palmitoyltransferase I, liver,
• Gene location: 11q13.3 (23783157: 23786222)     Exons: 7     NC_000023.11
• Gene summary(Entrez): The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the
• OMIM: 600528

Protein Summary

• Protein general information: P50416  
  • Name: Carnitine O palmitoyltransferase 1, liver isoform (CPT1 L) (EC 2.3.1.21) (Carnitine O palmitoyltransferase I, liver isoform) (CPT I) (CPTI L) (Carnitine palmitoyltransferase 1A)
  • Length: 773  
  • Mass: 88368
  • Tissue specificity: Strong expression in kidney and heart, and lower in liver and skeletal muscle.
• Sequence:

  MAEAHQAVAFQFTVTPDGIDLRLSHEALRQIYLSGLHSWKKKFIRFKNGIITGVYPASPSSWLIVVVGVMTTMYA
  KIDPSLGIIAKINRTLETANCMSSQTKNVVSGVLFGTGLWVALIVTMRYSLKVLLSYHGWMFTEHGKMSRATKIW
  MGMVKIFSGRKPMLYSFQTSLPRLPVPAVKDTVNRYLQSVRPLMKEEDFKRMTALAQDFAVGLGPRLQWYLKLKS
  WWATNYVSDWWEEYIYLRGRGPLMVNSNYYAMDLLYILPTHIQAARAGNAIHAILLYRRKLDREEIKPIRLLGST
  IPLCSAQWERMFNTSRIPGEETDTIQHMRDSKHIVVYHRGRYFKVWLYHDGRLLKPREMEQQMQRILDNTSEPQP
  GEARLAALTAGDRVPWARCRQAYFGRGKNKQSLDAVEKAAFFVTLDETEEGYRSEDPDTSMDSYAKSLLHGRCYD
  RWFDKSFTFVVFKNGKMGLNAEHSWADAPIVAHLWEYVMSIDSLQLGYAEDGHCKGDINPNIPYPTRLQWDIPGE
  CQEVIETSLNTANLLANDVDFHSFPFVAFGKGIIKKCRTSPDAFVQLALQLAHYKDMGKFCLTYEASMTRLFREG
  RTETVRSCTTESCDFVRAMVDPAQTVEQRLKLFKLASEKHQHMYRLAMTGSGIDRHLFCLYVVSKYLAVESPFLK
  EVLSEPWRLSTSQTPQQQVELFDLENNPEYVSSGGGFGPVADDGYGVSYILVGENLINFHISSKFSCPETDSHRF
  GRHLKEAMTDIITLFGLSSNSKK

• Structural information:
  • Interpro: IPR000542  IPR039551  IPR042232  IPR042231  IPR032476  
  • Prosite: PS00439 PS00440
  • PDB: 2LE3
  • PDBsum: 2LE3
  • STRING: ENSP00000265641
• Other Databases: GeneCards:  CPT1A  Malacards:  CPT1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004095	carnitine O-palmitoyltransferase activity	IDA	molecular function
GO:0004095	carnitine O-palmitoyltransferase activity	IBA	molecular function
GO:0009437	carnitine metabolic process	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0006631	fatty acid metabolic process	IBA	biological process
GO:0009437	carnitine metabolic process	IDA	biological process
GO:0004095	carnitine O-palmitoyltransferase activity	IDA	molecular function
GO:0001676	long-chain fatty acid metabolic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0031307	integral component of mitochondrial outer membrane	ISS	cellular component
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004095	carnitine O-palmitoyltransferase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0004095	carnitine O-palmitoyltransferase activity	IEA	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0006853	carnitine shuttle	TAS	biological process
GO:0007623	circadian rhythm	TAS	biological process
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:1990698	palmitoleoyltransferase activity	IEA	molecular function
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0042755	eating behavior	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0009437	carnitine metabolic process	IEA	biological process
GO:0006006	glucose metabolic process	IEA	biological process
GO:0004095	carnitine O-palmitoyltransferase activity	IEA	molecular function
GO:0001676	long-chain fatty acid metabolic process	IEA	biological process
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0046320	regulation of fatty acid oxidation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0032000	positive regulation of fatty acid beta-oxidation	IEA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006641	triglyceride metabolic process	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0030855	epithelial cell differentiation	IEP	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa04152	AMPK signaling pathway
hsa04922	Glucagon signaling pathway
hsa04931	Insulin resistance
hsa03320	PPAR signaling pathway
hsa01212	Fatty acid metabolism
hsa04920	Adipocytokine signaling pathway
hsa00071	Fatty acid degradation

Diseases

Associated diseases	References
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Carnitine palmitoyltransferase I deficiency	KEGG:H01981
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Carnitine palmitoyltransferase I deficiency	KEGG:H01981
Lipid metabolism disorder	PMID:9691089
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq