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. Involved in lymphangiogenesis and regulation of fatty acid beta-oxidation. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in carnitine palmitoyltransferase I deficiency and lipid metabolism disorder. Is expressed in liver and male organism. 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