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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:0014667 | disease of metabolism | |
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0050782 | Zollinger-Ellison syndrome | |
| DOID:0050908 | myelodysplastic syndrome | |
| DOID:0060067 | Pearson syndrome | |
| DOID:0060358 | multiple acyl-CoA dehydrogenase deficiency | |
| DOID:0070113 | Niemann-Pick disease type C1 | |
| DOID:0080153 | medium chain acyl-CoA dehydrogenase deficiency | |
| DOID:0080155 | very long chain acyl-CoA dehydrogenase deficiency |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000708 | Atypical behavior |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001254 | Lethargy |
| HP:0001259 | Coma |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001315 | Reduced tendon reflexes |
| 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 |
|---|---|---|---|
| 174912 | WB:WBGene00012907 | ||
| 36109 | FB:FBgn0261862 | ||
| 102359458 | LATCH19062 | ||
| 560000 | ZFIN:ZDB-GENE-030131-3250 | DANRE27768 | |
| 321871 | ZFIN:ZDB-GENE-030131-590 | ||
| 550361 | ZFIN:ZDB-GENE-050417-155 | ||
| 558088 | ZFIN:ZDB-GENE-060503-925 | ||
| 103025592 | ASTMX00353 | ||
| 108275128 | ICTPU06614 | ||
| 113589507 | ELEEL43466 |
