Gene
cpt1aa
- ID
- ZDB-GENE-060503-925
- Name
- carnitine palmitoyltransferase 1Aa (liver)
- Symbol
- cpt1aa Nomenclature History
- Previous Names
-
- cpt1a
- si:dkey-56p7.8
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have carnitine O-palmitoyltransferase activity. Predicted to be involved in carnitine metabolic process and fatty acid metabolic process. Predicted to localize to mitochondrion. Is expressed in liver and male organism. Human ortholog(s) of this gene implicated in carnitine palmitoyltransferase I deficiency and lipid metabolism disorder. Orthologous to human CPT1A (carnitine palmitoyltransferase 1A).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 27 figures from 24 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
carnitine palmitoyltransferase I deficiency | Alliance | CPT deficiency, hepatic, type IA | 255120 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR032476 | Carnitine O-palmitoyltransferase, N-terminal |
Domain | IPR039551 | Choline/carnitine acyltransferase domain |
Family | IPR000542 | Acyltransferase ChoActase/COT/CPT |
Homologous_superfamily | IPR023213 | Chloramphenicol acetyltransferase-like domain superfamily |
Homologous_superfamily | IPR042231 | Choline/Carnitine o-acyltransferase, domain 2 |
Domain Details Per Protein
Protein | Length | Acyltransferase ChoActase/COT/CPT | Carnitine O-palmitoyltransferase, N-terminal | Chloramphenicol acetyltransferase-like domain superfamily | Choline/carnitine acyltransferase domain | Choline/Carnitine o-acyltransferase, domain 2 |
---|---|---|---|---|---|---|
UniProtKB:A0A0R4ILW3
|
||||||
UniProtKB:Q1MTA9
|
773 | |||||
UniProtKB:A0A8M1N9G1
|
774 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cpt1aa-201
(1)
|
Ensembl | 2,325 nt | ||
mRNA |
cpt1aa-202
(1)
|
Ensembl | 3,354 nt | ||
mRNA |
cpt1aa-203
(1)
|
Ensembl | 440 nt | ||
mRNA |
cpt1aa-204
(1)
|
Ensembl | 2,574 nt |
Interactions and Pathways
No data available
Plasmids
No data available