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
- Exhibits calcium sensitive guanylate cyclase activator activity; identical protein binding activity; and metal ion binding activity. Predicted to be involved in visual perception. Predicted to localize to photoreceptor outer segment. Human ortholog(s) of this gene implicated in cone-rod dystrophy 14. Is expressed in eye and retina. 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