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CPT1B - carnitine palmitoyltransferase 1B Gene

Also Known as CPTI; CPT1M; MCPT1; CPT1-M; CPTI-M; M-CPT1; MCCPT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1375

About CPT1B

Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38): 22:50,568,861-50,578,612 (from NCBI)

This gene has 13 transcripts (splice variants), 197 orthologues and 6 paralogues. Broad expression in heart (RPKM 59.4), testis (RPKM 39.6) and 20 other tissues.

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-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]

CPT1B Products (6)

mRNA	Protein	Name
NM_001145134.2	NP_001138606.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform c
NM_001145135.2	NP_001138607.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_001145137.2	NP_001138609.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_004377.4	NP_004368.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_152245.3	NP_689451.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a
NM_152246.3	NP_689452.1	carnitine O-palmitoyltransferase 1, muscle isoform isoform a

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables carnitine O-palmitoyltransferase activity	IMP IMP: Inferred from mutant phenotype	9344464	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	9344464	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CPT1B Protein Structure

Carn_acyltransf

0
200
400
600
772 a.a.

Protein Preferred Names	Protein Names
carnitine O-palmitoyltransferase 1, muscle isoform	carnitine O-palmitoyltransferase 1B

CPT1B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	CPT1B	Q92523	TEX44	Homo sapiens	Q53QW1	Y2H Array	32296183
Intra	CPT1B	Q92523	TEX44	Homo sapiens	Q53QW1	Y2H Prey Pooling	32296183
Intra	CPT1B	Q92523	GOLT1A	Homo sapiens	Q6ZVE7	Y2H Array	32296183
Intra	CPT1B	Q92523	GOLT1A	Homo sapiens	Q6ZVE7	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Carnitine Palmitoyltransferase I Deficiency	Carnitine Palmitoyl Transferase 1a Deficiency Cpt1a Deficiency Cpt I Deficiency Carnitine Palmitoyl Transferase Ia Deficiency Hepatic Carnitine Palmitoyl Transferase 1 Deficiency Hepatic Carnitine Palmitoyl Transferase I Deficiency L-Cpt1 Deficiency Carnitine Palmitoyltransferase 1a Deficiency Carnitine Palmitoyltransferase Ia Deficiency Cpt Deficiency, Hepatic, Type I Cpt Deficiency, Hepatic, Type Ia Hepatic Carnitine Palmitoyltransferase 1 Deficiency L-Cpti Deficiency Hepatic Cpt Deficiency Type I Hepatic Cpt1 L-Cpt 1 Deficiency Cpt 1a Deficiency Liver Form Of Carnitine Palmitoyltransferase Deficiency CPT1AD Cpt-I Deficiency
Narcolepsy	Paroxysmal Sleep Gelineau Syndrome Narcoleptic Syndrome Narcolepsy-Cataplexy Syndrome Cataplexy And Narcolepsy Narcolepsy, Without Cataplexy Gelineau'S Syndrome Narcolepsy With Or Without Cataplexy Narcolepsy Nos
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS03123	CPT1B Human Pre-designed siRNA Set A		/	Unkown
HY-RS03124	CPT1C Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CPT1B	VGNC	VGNC:39580
Mus musculus	CPT1B	MGD	MGI:1098297
Felis catus	CPT1B	VGNC	VGNC:61147
Bos taurus	CPT1B	VGNC	VGNC:27677
Macaca mulatta	CPT1B	VGNC	VGNC:71476
Rattus norvegicus	CPT1B	RGD	RGD:2397
Others	CPT1B	NCBI