carnitine palmitoyltransferase 1A

Summary
Gene Symbol
  • CPT1A
Aliases
  • CPT1-L
  • L-CPT1
Organism
Homo sapiens (human)
External Links
NCBI Gene
1374
HGNC
2328
KEGG Gene ID
hsa:1374
PubChem
1374
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Acyltransferase
  • Alternative splicing
  • Disease variant
  • Fatty acid metabolism
  • Mitochondrion outer membrane
  • Nitration
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
  • Transport
Proteins
Displaying all 3 entries
UniProt Protein Name
P50416
  • Carnitine O-palmitoyltransferase I, liver isoform
  • Carnitine palmitoyltransferase 1A
  • Succinyltransferase CPT1A
B2RAQ8
Q8WZ48
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000110090

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K08765
Name
carnitine O-palmitoyltransferase 1, liver isoform [EC:2.3.1.21]
References
Disease
Disease Ontology
Displaying entries 61 - 70 of 117 in total
DO ID Disease Name Source
DOID:1596 depressive disorder
DOID:1612 breast cancer
DOID:162 cancer
DOID:1826 epilepsy
DOID:1837 diabetic ketoacidosis
DOID:1883 hepatitis C
DOID:1909 melanoma
DOID:2018 hyperinsulinism
DOID:2224 essential thrombocythemia
DOID:2237 hepatitis
The Human Phenotype Ontology
Displaying entries 21 - 30 of 37 in total
HPO ID HPO Term
HP:0001987 Hyperammonemia
HP:0002014 Diarrhea
HP:0002167 Abnormality of speech or vocalization
HP:0002240 Hepatomegaly
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0002919 Ketonuria
HP:0003202 Skeletal muscle atrophy
HP:0003215 Dicarboxylic aciduria
HP:0003236 Elevated circulating creatine kinase concentration
HP:0004374 Hemiplegia/hemiparesis
Displaying all 2 entries
Disease ID Disease Name
ORPHA:156
  • carnitine palmitoyl transferase 1A deficiency
OMIM:255120
  • carnitine palmitoyl transferase 1A deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002018
Gene Name
carnitine palmitoyltransferase 1A (liver)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024