CPT1B (carnitine palmitoyltransferase 1B)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1375
Gene name Carnitine palmitoyltransferase 1B
Gene symbol CPT1B
Synonyms (NCBI Gene)
CPT1-MCPT1MCPTICPTI-MM-CPT1MCCPT1MCPT1
Chromosome 22
Chromosome location 22q13.33
Summary 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.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
MEF2C Activation 15356291
PPARG Activation 15356291
RXRA Activation 15356291
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004095 Function Carnitine O-palmitoyltransferase activity EXP 9344464
GO:0004095 Function Carnitine O-palmitoyltransferase activity IBA
GO:0004095 Function Carnitine O-palmitoyltransferase activity IEA
GO:0004095 Function Carnitine O-palmitoyltransferase activity IMP 9344464
GO:0004095 Function Carnitine O-palmitoyltransferase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601987 2329 ENSG00000205560
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CPT1B-related disorder Uncertain significance; Likely benign rs150817976, rs895767490, rs186124477, rs147502032 RCV003400321
RCV003400086
RCV003961814
RCV003949628
High myopia Uncertain significance rs141837905 RCV000785687
Show/Hide Text Mining Associations (33)
Associations from Text MiningDisease associations identified through Pubtator
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