Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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-

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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
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

Show/Hide all(3)

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

Show/Hide all(33)

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

MIM	HGNC	e!Ensembl
601987	2329	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

Interactions

View interactions

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Narcolepsy	Narcolepsy	N/A	N/A	GWAS

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Down Syndrome	Associate	21124956
Embolism Fat	Associate	19553926
Fasciculation	Associate	19553926
Insulin Resistance	Associate	21701566
Leukemia Myeloid Acute	Associate	36938722
Lung Neoplasms	Associate	34970420
Metabolic Diseases	Associate	26058865
Mitochondrial Diseases	Associate	29288336, 34970420
Mitral Valve Insufficiency	Associate	27250500
Muscle Neoplasms	Associate	39456222
Narcolepsy	Associate	19404393, 21358852, 23349733, 24571861
Neoplasm Metastasis	Inhibit	30846479
Neoplasms	Associate	27189278, 34872584, 36716517, 36778142
Obesity	Associate	24905907, 26058865
Osteoarthritis	Associate	39456222
Osteoporosis	Associate	39456222
Osteoporotic Fractures	Inhibit	39456222
Prostatic Neoplasms	Associate	36778142
Pulmonary Disease Chronic Obstructive	Associate	28621160
Sarcoma Experimental	Associate	19404393
Urinary Bladder Neoplasms	Associate	27189278, 30846479
Weight Gain	Associate	24905907
Weight Loss	Associate	24905907

CPT1B (carnitine palmitoyltransferase 1B)