Gene
cpt1a2b
- ID
- ZDB-GENE-050417-155
- Name
- carnitine palmitoyltransferase 1A2b
- Symbol
- cpt1a2b Nomenclature History
- Previous Names
-
- cpt1cb (1)
- si:dkey-16p21.4
- zgc:112484
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable carnitine O-palmitoyltransferase activity. Predicted to be involved in carnitine metabolic process and fatty acid metabolic process. Predicted to act upstream of or within lipid metabolic process. Predicted to be located in mitochondrial outer membrane. Predicted to be active in mitochondrion. Is expressed in EVL; periderm; and polster. Human ortholog(s) of this gene implicated in carnitine palmitoyltransferase I deficiency; hereditary spastic paraplegia 73; and lipid metabolism disorder. Orthologous to human CPT1A (carnitine palmitoyltransferase 1A) and CPT1C (carnitine palmitoyltransferase 1C).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:112484 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
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 |
Homologous_superfamily | IPR042572 | Carnitine o-acyltransferase, N-terminal |
Domain Details Per Protein
Protein | Length | Acyltransferase ChoActase/COT/CPT | Carnitine o-acyltransferase, N-terminal | Carnitine O-palmitoyltransferase, N-terminal | Chloramphenicol acetyltransferase-like domain superfamily | Choline/carnitine acyltransferase domain | Choline/Carnitine o-acyltransferase, domain 2 |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9PFB6
|
807 | ||||||
UniProtKB:A0A8M9PYA7
|
393 | ||||||
UniProtKB:A0A8M9Q999
|
409 | ||||||
UniProtKB:E7EYD4
|
780 | ||||||
UniProtKB:A0A8M3B117
|
394 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cpt1cb-202
(1)
|
Ensembl | 2,541 nt | ||
mRNA |
cpt1cb-203
(1)
|
Ensembl | 1,608 nt | ||
ncRNA |
cpt1cb-002
(1)
|
Ensembl | 858 nt |
Interactions and Pathways
No data available
Plasmids
No data available