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carnitine palmitoyltransferase 1A
Summary
- Gene Symbol
-
- CPT1A
- Aliases
-
- CPT1-L
- L-CPT1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Acyltransferase
- Alternative splicing
- Disease variant
- Fatty acid metabolism
- Mitochondrion outer membrane
- Nitration
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Transport
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| triglyceride metabolic process | ||
| regulation of insulin secretion | ||
| fatty acid metabolic process | ||
| response to tetrachloromethane | ||
| response to xenobiotic stimulus |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
response to stimulus [inference]
localization [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
positive regulation of biological process [inference]
regulation of response to stimulus [inference]
regulation of cellular process [inference]
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| palmitoleoyltransferase activity | ||
| carnitine O-palmitoyltransferase activity | ||
| protein-macromolecule adaptor activity | ||
| identical protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:11832 | visual epilepsy | |
| DOID:11847 | coronary thrombosis | |
| DOID:11870 | Pick's disease | |
| DOID:11984 | hypertrophic cardiomyopathy | |
| DOID:12139 | dysthymic disorder | |
| DOID:12241 | beta thalassemia | |
| DOID:12351 | alcoholic hepatitis | |
| DOID:12930 | dilated cardiomyopathy | |
| DOID:12932 | endomyocardial fibrosis | |
| DOID:13250 | diarrhea |
- The Human Phenotype Ontology
| 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 |
| Disease ID | Disease Name |
|---|---|
| ORPHA:156 |
|
| OMIM:255120 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002018
- Gene Name
- carnitine palmitoyltransferase 1A (liver)
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 103744525 | NANGA23892 | ||
| 116445451 | CORMO22391 | ||
| 115606313 | STRHB10148 |
