Gene
crb1
- ID
- ZDB-GENE-050208-382
- Name
- crumbs cell polarity complex component 1
- Symbol
- crb1 Nomenclature History
- Previous Names
-
- si:dkey-114d20.6
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Is predicted to enable calcium ion binding activity. Involved in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Acts upstream of or within cell projection morphogenesis and establishment or maintenance of epithelial cell apical/basal polarity. Predicted to be located in membrane. Predicted to be integral component of membrane. Part of protein-containing complex. Is expressed in nervous system. Human ortholog(s) of this gene implicated in pigmented paravenous chorioretinal atrophy and retinal disease (multiple). Orthologous to human CRB1 (crumbs cell polarity complex component 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Leber congenital amaurosis 8 | Alliance | Leber congenital amaurosis 8 | 613835 |
| pigmented paravenous chorioretinal atrophy | Alliance | Pigmented paravenous chorioretinal atrophy | 172870 |
| retinitis pigmentosa 12 | Alliance | Retinitis pigmentosa-12 | 600105 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001791 | Laminin G domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Length | Concanavalin A-like lectin/glucanase domain superfamily | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Growth factor receptor cysteine-rich domain superfamily | Laminin G domain |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2B8L0
|
1042 | |||||||
|
UniProtKB:Q1A5L3
|
1428 |
Interactions and Pathways
No data available
Plasmids
No data available