CPT1B (carnitine palmitoyltransferase 1B)

Gene

• Entrez ID: 1375
• Gene name: Carnitine palmitoyltransferase 1B
• Gene symbol: CPT1B
• Synonyms (NCBI Gene): CPT1-M, CPT1M, CPTI, CPTI-M, M-CPT1, MCCPT1, MCPT1
• 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

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
MIRT646353	hsa-miR-8063	HITS-CLIP	23824327
MIRT646354	hsa-miR-4698	HITS-CLIP	23824327
MIRT646352	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT646351	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT646350	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT646349	hsa-miR-623	HITS-CLIP	23824327
MIRT646348	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT646347	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT646346	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646345	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646344	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT646343	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT646357	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT646356	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT646355	hsa-miR-3938	HITS-CLIP	23824327
MIRT646353	hsa-miR-8063	HITS-CLIP	23824327
MIRT646354	hsa-miR-4698	HITS-CLIP	23824327
MIRT646352	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT646351	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT646350	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT646349	hsa-miR-623	HITS-CLIP	23824327
MIRT646348	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT646347	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT646346	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT646345	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT646344	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT646343	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1969085	hsa-miR-1224-3p	CLIP-seq
MIRT1969086	hsa-miR-128	CLIP-seq
MIRT1969087	hsa-miR-3144-5p	CLIP-seq
MIRT1969088	hsa-miR-3151	CLIP-seq
MIRT1969089	hsa-miR-3191	CLIP-seq
MIRT1969090	hsa-miR-370	CLIP-seq
MIRT1969091	hsa-miR-4302	CLIP-seq
MIRT1969092	hsa-miR-4447	CLIP-seq
MIRT1969093	hsa-miR-4472	CLIP-seq
MIRT1969094	hsa-miR-4652-5p	CLIP-seq
MIRT1969095	hsa-miR-4691-5p	CLIP-seq
MIRT1969096	hsa-miR-491-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MEF2C	Activation	15356291
PPARG	Activation	15356291
RXRA	Activation	15356291

Gene ontology (GO)

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
GO:0004095	Function	Carnitine O-palmitoyltransferase activity	TAS	10408760
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	9344464
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	10408760
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IBA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	ISS
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	TAS	10408760
GO:0006853	Process	Carnitine shuttle	IEA
GO:0006853	Process	Carnitine shuttle	TAS
GO:0009437	Process	Carnitine metabolic process	IBA
GO:0009437	Process	Carnitine metabolic process	IEA
GO:0009437	Process	Carnitine metabolic process	ISS
GO:0009637	Process	Response to blue light	IEA
GO:0009637	Process	Response to blue light	ISS
GO:0015909	Process	Long-chain fatty acid transport	IBA
GO:0015909	Process	Long-chain fatty acid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA

Other IDs

• MIM: 601987
• HGNC: 2329
• e!Ensembl: ENSG00000205560

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

• Tissue specificity: TISSUE SPECIFICITY: Strong expression in heart and skeletal muscle. No expression in liver and kidney.
• Sequence:

  MAEAHQAVAFQFTVTPDGVDFRLSREALKHVYLSGINSWKKRLIRIKNGILRGVYPGSPT
  SWLVVIMATVGSSFCNVDISLGLVSCIQRCLPQGCGPYQTPQTRALLSMAIFSTGVWVTG
  IFFFRQTLKLLLCYHGWMFEMHGKTSNLTRIWAMCIRLLSSRHPMLYSFQTSLPKLPVPR
  VSATIQRYLESVRPLLDDEEYYRMELLAKEFQDKTAPRLQKYLVLKSWWASNYVSDWWEE
  YIYLRGRSPLMVNSNYYVMDLVLIKNTDVQAARLGNIIHAMIMYRRKLDREEIKPVMALG
  IVPMCSYQMERMFNTTRIPGKDTDVLQHLSDSRHVAVYHKGRFFKLWLYEGARLLKPQDL
  EMQFQRILDDPSPPQPGEEKLAALTAGGRVEWAQARQAFFSSGKNKAALEAIERAAFFVA
  LDEESYSYDPEDEASLSLYGKALLHGNCYNRWFDKSFTLISFKNGQLGLNAEHAWADAPI
  IGHLWEFVLGTDSFHLGYTETGHCLGKPNPALAPPTRLQWDIPKQCQAVIESSYQVAKAL
  ADDVELYCFQFLPFGKGLIKKCRTSPDAFVQIALQLAHFRDRGKFCLTYEASMTRMFREG
  RTETVRSCTSESTAFVQAMMEGSHTKADLRDLFQKAAKKHQNMYRLAMTGAGIDRHLFCL
  YLVSKYLGVSSPFLAEVLSEPWRLSTSQIPQSQIRMFDPEQHPNHLGAGGGFGPVADDGY
  GVSYMIAGENTIFFHISSKFSSSETNAQRFGNHIRKALLDIADLFQVPKAYS

• Sequence length: 772

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CPT1B-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF FATTY ACID METABOLISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARCOLEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	26569459	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30846479		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	36728938	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30846479		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32737333, 36716517	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	26569459	Associate	★☆☆☆☆ Found in Text Mining only
Carnitine Palmitoyltransferase II Deficiency Infantile	Carnitine palmitoyltransferase deficiency	Pubtator	19904456	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18467915		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29301869		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	16538490	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19553926	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21816445		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30876865		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21124956		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	21124956	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	22809552, 30322784		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28349667		★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	BEFREE	19404393		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21701566	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36938722	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	25058030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	34970420	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	25058030		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30846479		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29249690		★☆☆☆☆ Found in Text Mining only
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	BEFREE	30617651		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	26058865	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22809552		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29288336, 34970420	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	30617651		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	30289745		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	18820697, 21285061, 21358852, 22177342, 24571861, 27305985		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	CTD_human_DG	18820697		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	Pubtator	19404393, 21358852, 23349733, 24571861	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy-Cataplexy Syndrome	Narcolepsy-Cataplexy Syndrome	CTD_human_DG	18820697		★☆☆☆☆ Found in Text Mining only
Narcolepsy-Cataplexy Syndrome	Narcolepsy-Cataplexy Syndrome	BEFREE	19404393		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24905907, 26058865	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25784542, 26058865		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	26058865		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	39456222	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	39456222	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	26080315		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36778142	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28621160	Associate	★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	30617651		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	21285061		★☆☆☆☆ Found in Text Mining only
Sarcoma Experimental	Sarcoma	Pubtator	19404393	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	22809552, 28935932		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27189278, 30846479	Associate	★☆☆☆☆ Found in Text Mining only
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	BEFREE	30617651		★☆☆☆☆ Found in Text Mining only