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 and transcription initiation at RNA polymerase I promoter. Predicted to be located in membrane. Predicted to be active in caveola and cytoplasm. Is expressed in myotome. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 4. 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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cavin1a-201
(1)
|
Ensembl | 2,156 nt |
Interactions and Pathways
No data available
Plasmids