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CPT1B (carnitine palmitoyltransferase 1B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1375
Gene nameGene Name - the full gene name approved by the HGNC.
Carnitine palmitoyltransferase 1B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CPT1B
SynonymsGene synonyms aliases
CPT1-M, CPT1M, CPTI, CPTI-M, M-CPT1, MCCPT1, MCPT1
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.33
SummarySummary of gene provided in NCBI Entrez Gene.
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-
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017237 hsa-miR-335-5p Microarray 18185580
MIRT036268 hsa-miR-1229-3p CLASH 23622248
MIRT646357 hsa-miR-548c-3p HITS-CLIP 23824327
MIRT646356 hsa-miR-551b-5p HITS-CLIP 23824327
MIRT646355 hsa-miR-3938 HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
MEF2C Activation 15356291
PPARG Activation 15356291
RXRA Activation 15356291
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004095 Function Carnitine O-palmitoyltransferase activity IBA 21873635
GO:0004095 Function Carnitine O-palmitoyltransferase activity IMP 9344464
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q92523
Protein 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)
Protein function Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. {ECO:0000250|UniP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16484 CPT_N
1 47
Carnitine O-palmitoyltransferase N-terminus
Domain
PF00755 Carn_acyltransf
173 762
Choline/Carnitine o-acyltransferase
Family
Sequence
Sequence length 772
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Fatty acid degradation
Fatty acid metabolism
PPAR signaling pathway
Efferocytosis
AMPK signaling pathway
Thermogenesis
Adipocytokine signaling pathway
Glucagon signaling pathway
Insulin resistance
Alcoholic liver disease
Diabetic cardiomyopathy
  Carnitine metabolism
Signaling by Retinoic Acid
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Narcolepsy Narcolepsy rs104894574, rs387906655 18820697
Unknown
Disease name Disease term dbSNP ID References
Liver neoplasms Liver neoplasms 25058030
Liver cancer Malignant neoplasm of liver 25058030
Myocardial ischemia Myocardial Ischemia 16214533
Narcolepsy-cataplexy syndrome Narcolepsy-Cataplexy Syndrome 18820697

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