Gene
cav1
- ID
- ZDB-GENE-030131-2415
- Name
- caveolin 1
- Symbol
- cav1 Nomenclature History
- Previous Names
-
- wu:fc07c04
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Exhibits beta-catenin binding activity. Involved in several processes, including animal organ development; regionalization; and regulation of defense response. Predicted to colocalize with caveola; focal adhesion; and sarcolemma. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); lipodystrophy (multiple); primary open angle glaucoma; primary pulmonary hypertension; and systemic scleroderma (multiple). Is expressed in several structures, including cardiovascular system; ectoderm; integument; lateral line system; and tail bud. Orthologous to human CAV1 (caveolin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 26 figures from 15 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6911989 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 18 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital generalized lipodystrophy type 3 | Alliance | Lipodystrophy, congenital generalized, type 3 | 612526 |
| primary pulmonary hypertension | Alliance | Pulmonary hypertension, primary, 3 | 615343 |
| Lipodystrophy, familial partial, type 7 | 606721 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Caveolin | Caveolin, conserved site |
|---|---|---|---|
|
UniProtKB:Q6YLH9
|
181 | ||
|
UniProtKB:Q6YLH8
|
148 |
Interactions and Pathways
No data available
Plasmids
No data available