Gene
cavin1b
- ID
- ZDB-GENE-030131-5509
- Name
- caveolae associated protein 1b
- Symbol
- cavin1b Nomenclature History
- Previous Names
-
- fd20g07
- ptrf
- ptrfb
- wu:fd20g07
- zgc:162917
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Involved in notochord development. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 4. Is expressed in blood vasculature; notochord; otic vesicle; and pharyngeal arch 3-7 skeleton. Orthologous to human CAVIN1 (caveolae associated protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 3 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 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:A6NA21
|
454 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cavin1b-201
(1)
|
Ensembl | 1,432 nt | ||
| mRNA |
cavin1b-202
(1)
|
Ensembl | 1,307 nt | ||
| mRNA |
cavin1b-203
(1)
|
Ensembl | 2,298 nt |
Interactions and Pathways
No data available
Plasmids