CPT1B (carnitine palmitoyltransferase 1B)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1375
Gene name Gene Name - the full gene name approved by the HGNC.
Carnitine palmitoyltransferase 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPT1B
Synonyms (NCBI Gene) Gene synonyms aliases
CPT1-M, CPT1M, CPTI, CPTI-M, M-CPT1, MCCPT1, MCPT1
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.33
Summary Summary 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-
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(44)
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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(3)
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(14)
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
601987 2329 ENSG00000205560
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
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
Tissue specificity TISSUE SPECIFICITY: Strong expression in heart and skeletal muscle. No expression in liver and kidney.
Sequence
Sequence length 772
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Narcolepsy Narcolepsy GWAS
Show/Hide Text Mining Associations (33)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 34872584
Adenocarcinoma of Lung Associate 38016436
Arrhythmogenic Right Ventricular Dysplasia Associate 26569459
Bone Diseases Metabolic Associate 36728938
Carcinoma Renal Cell Associate 32737333, 36716517
Cardiomyopathy Dilated Associate 26569459
Carnitine Palmitoyltransferase II Deficiency Infantile Associate 19904456
Diabetes Mellitus Associate 16538490
Diabetes Mellitus Type 2 Associate 19553926
Disorders of Excessive Somnolence Associate 19404393