• Gene id: 126129

Gene Summary

• Gene Symbol: CPT1C   Gene   UCSC   Ensembl
• Aliases: CATL1, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73
• Gene name: carnitine palmitoyltransferase 1C
• Alternate names: carnitine O-palmitoyltransferase 1, brain isoform, carnitine O-palmitoyltransferase I, brain isoform, carnitine palmitoyltransferase I related C,
• Gene location: 19q13.33 (49690671: 49713730)     Exons: 24     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-b
• OMIM: 613358

Protein Summary

• Protein general information: Q8TCG5  
  • Name: Carnitine O palmitoyltransferase 1, brain isoform (CPT1 B) (EC 2.3.1.21) (CPT IC) (Carnitine O palmitoyltransferase I, brain isoform) (CPTI B) (Carnitine palmitoyltransferase 1C)
  • Length: 803  
  • Mass: 90989
  • Tissue specificity: Expressed predominantly in brain and testis. Expressed in motor neurons. {ECO
• Sequence:

  MAEAHQAVGFRPSLTSDGAEVELSAPVLQEIYLSGLRSWKRHLSRFWNDFLTGVFPASPLSWLFLFSAIQLAWFL
  QLDPSLGLMEKIKELLPDWGGQHHGLRGVLAAALFASCLWGALIFTLHVALRLLLSYHGWLLEPHGAMSSPTKTW
  LALVRIFSGRHPMLFSYQRSLPRQPVPSVQDTVRKYLESVRPILSDEDFDWTAVLAQEFLRLQASLLQWYLRLKS
  WWASNYVSDWWEEFVYLRSRNPLMVNSNYYMMDFLYVTPTPLQAARAGNAVHALLLYRHRLNRQEIPPTLLMGMR
  PLCSAQYEKIFNTTRIPGVQKDYIRHLHDSQHVAVFHRGRFFRMGTHSRNSLLSPRALEQQFQRILDDPSPACPH
  EEHLAALTAAPRGTWAQVRTSLKTQAAEALEAVEGAAFFVSLDAEPAGLTREDPAASLDAYAHALLAGRGHDRWF
  DKSFTLIVFSNGKLGLSVEHSWADCPISGHMWEFTLATECFQLGYSTDGHCKGHPDPTLPQPQRLQWDLPDQIHS
  SISLALRGAKILSENVDCHVVPFSLFGKSFIRRCHLSSDSFIQIALQLAHFRDRGQFCLTYESAMTRLFLEGRTE
  TVRSCTREACNFVRAMEDKEKTDPQCLALFRVAVDKHQALLKAAMSGQGVDRHLFALYIVSRFLHLQSPFLTQVH
  SEQWQLSTSQIPVQQMHLFDVHNYPDYVSSGGGFGPADDHGYGVSYIFMGDGMITFHISSKKSSTKTDSHRLGQH
  IEDALLDVASLFQAGQHFKRRFRGSGKENSRHRCGFLSRQTGASKASMTSTDF

• Structural information:
  • Interpro: IPR000542  IPR039551  IPR042232  IPR042231  IPR032476  
  • Prosite: PS00439 PS00440
  • PDB: 2M76
  • PDBsum: 2M76
  • STRING: ENSP00000376303
• Other Databases: GeneCards:  CPT1C  Malacards:  CPT1C

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0030425	dendrite	ISS	cellular component
GO:0030424	axon	ISS	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004095	carnitine O-palmitoyltransferase activity	IEA	molecular function
GO:0009437	carnitine metabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0004095	carnitine O-palmitoyltransferase activity	IEA	molecular function
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0032281	AMPA glutamate receptor complex	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R