Gene
guca1ab.1
- ID
- ZDB-GENE-040426-1577
- Name
- guanylate cyclase activator 1Ab.1
- Symbol
- guca1ab.1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Enables calcium sensitive guanylate cyclase activator activity; identical protein binding activity; and metal ion binding activity. Predicted to be involved in positive regulation of guanylate cyclase activity and visual perception. Predicted to be located in photoreceptor outer segment. Predicted to be active in cone photoreceptor outer segment and photoreceptor inner segment. Is expressed in eye and retina. Human ortholog(s) of this gene implicated in cone-rod dystrophy 14. Orthologous to human GUCA1A (guanylate cyclase activator 1A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cone-rod dystrophy 14 | Alliance | Cone dystrophy-3 | 602093 |
| cone-rod dystrophy 14 | Alliance | Cone-rod dystrophy 14 | 602093 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | Recoverin family |
|---|---|---|---|---|---|
|
UniProtKB:Q5MAC8
|
198 | ||||
|
UniProtKB:Q6PFM5
|
198 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
guca1e-201
(1)
|
Ensembl | 2,689 nt | ||
| mRNA |
guca1e-202
(1)
|
Ensembl | 5,202 nt |
Interactions and Pathways
No data available
Plasmids
No data available