• Gene id: 1375

Gene Summary

• Gene Symbol: CPT1B   Gene   UCSC   Ensembl
• Aliases: CPT1-M, CPT1M, CPTI, CPTI-M, M-CPT1, MCCPT1, MCPT1
• Gene name: carnitine palmitoyltransferase 1B
• Alternate names: carnitine O-palmitoyltransferase 1, muscle isoform, carnitine O-palmitoyltransferase 1B, carnitine O-palmitoyltransferase I, mitochondrial muscle isoform, carnitine palmitoyltransferase 1B (muscle), carnitine palmitoyltransferase I-like protein,
• Gene location: 22q13.33 (50578611: 50568860)     Exons: 21     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-

Protein Summary

• Protein general information: Q92523  
  • Name: Carnitine O palmitoyltransferase 1, muscle isoform (CPT1 M) (EC 2.3.1.21) (Carnitine O palmitoyltransferase I, muscle isoform) (CPT I) (CPTI M) (Carnitine palmitoyltransferase 1B) (Carnitine palmitoyltransferase I like protein)
  • Length: 772  
  • Mass: 87801
  • Tissue specificity: Strong expression in heart and skeletal muscle. No expression in liver and kidney.
• Sequence:

  MAEAHQAVAFQFTVTPDGVDFRLSREALKHVYLSGINSWKKRLIRIKNGILRGVYPGSPTSWLVVIMATVGSSFC
  NVDISLGLVSCIQRCLPQGCGPYQTPQTRALLSMAIFSTGVWVTGIFFFRQTLKLLLCYHGWMFEMHGKTSNLTR
  IWAMCIRLLSSRHPMLYSFQTSLPKLPVPRVSATIQRYLESVRPLLDDEEYYRMELLAKEFQDKTAPRLQKYLVL
  KSWWASNYVSDWWEEYIYLRGRSPLMVNSNYYVMDLVLIKNTDVQAARLGNIIHAMIMYRRKLDREEIKPVMALG
  IVPMCSYQMERMFNTTRIPGKDTDVLQHLSDSRHVAVYHKGRFFKLWLYEGARLLKPQDLEMQFQRILDDPSPPQ
  PGEEKLAALTAGGRVEWAQARQAFFSSGKNKAALEAIERAAFFVALDEESYSYDPEDEASLSLYGKALLHGNCYN
  RWFDKSFTLISFKNGQLGLNAEHAWADAPIIGHLWEFVLGTDSFHLGYTETGHCLGKPNPALAPPTRLQWDIPKQ
  CQAVIESSYQVAKALADDVELYCFQFLPFGKGLIKKCRTSPDAFVQIALQLAHFRDRGKFCLTYEASMTRMFREG
  RTETVRSCTSESTAFVQAMMEGSHTKADLRDLFQKAAKKHQNMYRLAMTGAGIDRHLFCLYLVSKYLGVSSPFLA
  EVLSEPWRLSTSQIPQSQIRMFDPEQHPNHLGAGGGFGPVADDGYGVSYMIAGENTIFFHISSKFSSSETNAQRF
  GNHIRKALLDIADLFQVPKAYS

• Structural information:
  • Interpro: IPR000542  IPR039551  IPR042232  IPR042231  IPR032476  
  • Prosite: PS00439 PS00440
  • STRING: ENSP00000379011
• Other Databases: GeneCards:  CPT1B  Malacards:  CPT1B

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:0015909	long-chain fatty acid transport	IBA	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:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
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:0006853	carnitine shuttle	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:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0004095	carnitine O-palmitoyltransferase activity	IEA	molecular function
GO:0015909	long-chain fatty acid transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0005739	mitochondrion	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
Cryptorchidism	MIK: 28606200

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