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
- Predicted to enable rRNA primary transcript binding activity. Acts upstream of or within notochord development. Predicted to be located in membrane. Predicted to be active in caveola and cytoplasm. Is expressed in blood vasculature; notochord; otic vesicle; and pharyngeal arch 3-7 skeleton. 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
- 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