Gene
cavin1a
- ID
- ZDB-GENE-091204-151
- Name
- caveolae associated protein 1a
- Symbol
- cavin1a Nomenclature History
- Previous Names
-
- ptrfa
- si:ch211-209d14.2
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- A structural constituent of muscle. Predicted to be involved in termination of RNA polymerase I transcription. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 4. Is expressed in myotome. Orthologous to human CAVIN1 (caveolae associated protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Lo et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Lo et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital generalized lipodystrophy type 4 | Alliance | Lipodystrophy, congenital generalized, type 4 | 613327 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR026752 | Cavin family |
Domain Details Per Protein
| Protein | Length | Cavin family |
|---|---|---|
|
UniProtKB:E7F0K3
|
415 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
cavin1a-201
(1)
|
Havana | 2156 nt |
Interactions and Pathways
No data available
Plasmids