CPT1A (carnitine palmitoyltransferase 1A)

2008-04-01 Affiliation

Identity

HGNC

CPT1A

LOCATION

11q13.3

LOCUSID

1374

ALIAS

CPT1,CPT1-L,L-CPT1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1374
MIM: 600528
HGNC: 2328
Ensembl: ENSG00000110090

Variants:

dbSNP: 1374
ClinVar: 1374
TCGA: ENSG00000110090
COSMIC: CPT1A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000110090	ENST00000265641	P50416
ENSG00000110090	ENST00000265641	A0A024R5F4
ENSG00000110090	ENST00000376618	P50416
ENSG00000110090	ENST00000538994	H3BMD2
ENSG00000110090	ENST00000539743	P50416
ENSG00000110090	ENST00000539743	A0A024R5F4
ENSG00000110090	ENST00000540367	P50416
ENSG00000110090	ENST00000561996	H3BUJ0
ENSG00000110090	ENST00000565318	H3BUV7
ENSG00000110090	ENST00000569129	H3BP22

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Fatty acid degradation	KEGG	ko00071
PPAR signaling pathway	KEGG	ko03320
Adipocytokine signaling pathway	KEGG	ko04920
Fatty acid degradation	KEGG	hsa00071
PPAR signaling pathway	KEGG	hsa03320
Adipocytokine signaling pathway	KEGG	hsa04920
Fatty acid metabolism	KEGG	hsa01212
Fatty acid metabolism	KEGG	ko01212
AMPK signaling pathway	KEGG	hsa04152
AMPK signaling pathway	KEGG	ko04152
Glucagon signaling pathway	KEGG	hsa04922
Glucagon signaling pathway	KEGG	ko04922
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Retinoic Acid	REACTOME	R-HSA-5362517
Circadian Clock	REACTOME	R-HSA-400253
RORA activates gene expression	REACTOME	R-HSA-1368082
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Import of palmitoyl-CoA into the mitochondrial matrix	REACTOME	R-HSA-200425
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	REACTOME	R-HSA-400206
PPARA activates gene expression	REACTOME	R-HSA-1989781
Insulin resistance	KEGG	hsa04931

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
24920721	2014	Epigenome-wide association study of fasting blood lipids in the Genetics of Lipid-lowering Drugs and Diet Network study.	106
20124555	2010	MicroRNA-370 controls the expression of microRNA-122 and Cpt1alpha and affects lipid metabolism.	96
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
27195673	2016	Fatty acid oxidation and carnitine palmitoyltransferase I: emerging therapeutic targets in cancer.	66
26110892	2015	Epigenome-wide study identifies novel methylation loci associated with body mass index and waist circumference.	57
26276667	2015	Targeting the leukemia cell metabolism by the CPT1a inhibition: functional preclinical effects in leukemias.	48
12464674	2002	Malonyl coenzyme A and the regulation of functional carnitine palmitoyltransferase-1 activity and fat oxidation in human skeletal muscle.	41
20638986	2010	Peroxisome proliferator activated receptor alpha (PPARalpha) and PPAR gamma coactivator (PGC-1alpha) induce carnitine palmitoyltransferase IA (CPT-1A) via independent gene elements.	36
24711635	2014	Methylation at CPT1A locus is associated with lipoprotein subfraction profiles.	31
29596410	2018	Identifying off-target effects of etomoxir reveals that carnitine palmitoyltransferase I is essential for cancer cell proliferation independent of β-oxidation.	30

Citation

Dessen P

CPT1A (carnitine palmitoyltransferase 1A)

Atlas Genet Cytogenet Oncol Haematol. 2008-04-01

Online version: http://atlasgeneticsoncology.org/gene/50088/cpt1a