CPT1A - carnitine palmitoyltransferase 1A Gene

Also Known as CPT1; CPT1-L; L-CPT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1374

About CPT1A

Cytogenetic location: 11q13.3 Genomic coordinates (GRCh38): 11:68,754,620-68,844,277 (from NCBI)

This gene has 9 transcripts (splice variants), 222 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 34.6), small intestine (RPKM 28.5) and 25 other tissues.

Summary

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CPT1A Products (2)

mRNA	Protein	Name
NM_001031847.3	NP_001027017.1	carnitine O-palmitoyltransferase 1, liver isoform isoform 2
NM_001876.4	NP_001867.2	carnitine O-palmitoyltransferase 1, liver isoform isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables carnitine O-palmitoyltransferase activity	IDA IDA: Inferred from direct assay	7892212	GOA
enables carnitine O-palmitoyltransferase activity	IMP IMP: Inferred from mutant phenotype	9691089	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	38016475	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in carnitine metabolic process	IDA IDA: Inferred from direct assay	11350182	GOA
involved in epithelial cell differentiation	IEP IEP: Inferred from expression pattern	21492153	GOA
involved in long-chain fatty acid metabolic process	IDA IDA: Inferred from direct assay	11350182	GOA
involved in positive regulation of innate immune response	IDA IDA: Inferred from direct assay	38016475	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial outer membrane	IMP IMP: Inferred from mutant phenotype	14517221	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	11350182	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

CPT1A Protein Structure

Carn_acyltransf

0
200
400
600
773 a.a.

Protein Preferred Names	Protein Names
carnitine O-palmitoyltransferase 1, liver isoform	CPT I

CPT1A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81167	CPT1A Antibody	IHC-P, IHC-F, ICC/IF	Human, Mouse
HY-P86170	CPT1A Antibody (YA5862)	WB, IHC-P, IP	Human, Mouse
HY-P86822	CPT1A Antibody (YA6515)	WB	Mouse, Rat

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
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Carnitine Palmitoyltransferase Ii Deficiency Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular Cpt Ii Deficiency, Hepatic Cpt2 Deficiency, Infantile Cpt Ii Deficiency, Infantile Cpt Ii Deficiency Carnitine Palmitoyltransferase 2 Deficiency Cpt2 Carnitine Palmitoyltransferase Deficiency Type 2 Carnitine Palmitoyl Transferase 2 Deficiency Cpt-Ii Infantile Carnitine Palmitoyltransferase Ii Deficiency Late-Onset Carnitine Palmitoyltransferase Ii Deficiency Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency Carnitine Palmitoyltransferase Ii Deficiency Cpt2 Deficiency Cptii Cpt2, Hepatocardiomuscular Form Cpt2, Severe Infantile Form Cptii, Hepatocardiomuscular Form Cptii, Severe Infantile Form Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form Carnitine Palmitoyltransferase 2 Deficiency, Infantile CPT2DI Cpt Deficiency, Hepatic, Type Ii Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Carnitine-Acylcarnitine Translocase Deficiency	Cact Deficiency Carnitine Acylcarnitine Translocase Deficiency CACTD Carnitine-Acylcarnitine Carrier Deficiency
Hypoglycemia	Hypoglycaemia Low Blood Sugar Hypoglycaemia Nos Spontaneous Hypoglycaemia Nondiabetic Hypoglycaemia Hypoglycaemic Disorder Nos Hypoglycaemic Syndrome
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Non-Alcoholic Fatty Liver Disease	Fatty Liver Non-Alcoholic Fatty Liver Nafld Nonalcoholic Fatty Liver Disease Nonalcoholic Steatohepatitis Steatosis Nafl Nash Non-Alcoholic Steatohepatitis Susceptibility To Nonalcoholic Fatty Liver Disease Steatohepatitis Fatty Degeneration Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis Nafld Without Nash Nafld Without Mention Of Nash
Diabetes Mellitus	Diabetes
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
Non-Alcoholic Steatohepatitis	Nonalcoholic Steatohepatitis Nash Nash - [Non-Alcoholic Steatohepatitis] Non-Alcoholic Steatohepatosis
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism
Myopathy	Muscular Diseases Myopathies

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-115938	BEC2	Activator	98.0%	Phase 3
HY-168046	ALG-055009	Agonist	95.32%	Phase 2

Pre-clinical Phase

Bioactive Molecules (18)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-50202	Etomoxir		99.58%	Yes
HY-12364	C75		99.91%	Unkown
HY-50202A	Etomoxir sodium salt		99.79%	Yes
HY-N2593	Isorhapontigenin		99.82%	Unkown
HY-N0723	Neomangiferin		99.80%	Unkown
HY-50670	DGAT-1 inhibitor 2		95.33%	Unkown
HY-RS03122	CPT1A Human Pre-designed siRNA Set A		/	Unkown
HY-W588256	12-Tridecenoic acid	Activator	95.0%	Unkown
HY-W420033	(S)-(+)-Etomoxir		98.65%	Unkown
HY-161027	2,6-Didehydropeperomin B		/	Unkown
HY-N8144	Niga-ichigoside F1		99.0%	Unkown
HY-N9333	Wistin	Agonist	97.63%	Unkown
HY-50202R	Etomoxir (Standard)		99.56%	Unkown
HY-RS16248	Cpt1a Mouse Pre-designed siRNA Set A		/	Unkown
HY-12364B	(−)-C75		/	Unkown
HY-183318	PPARα/δ agonist 4	Agonist	/	Unkown
HY-116257	GSK-7227	Agonist	98.03%	Unkown
HY-RS23138	Cpt1a Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CPT1A	RGD	RGD:2396
Canis familiaris	CPT1A	VGNC	VGNC:39579
Macaca mulatta	CPT1A	VGNC	VGNC:71475
Bos taurus	CPT1A	VGNC	VGNC:27676
Mus musculus	CPT1A	MGD	MGI:1098296
Felis catus	CPT1A	VGNC	VGNC:61146
Others	CPT1A	NCBI