Gene
robo1
- ID
- ZDB-GENE-000209-3
- Name
- roundabout, axon guidance receptor, homolog 1 (Drosophila)
- Symbol
- robo1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable axon guidance receptor activity. Acts upstream of or within axon guidance and endocardial progenitor cell migration to the midline involved in heart field formation. Predicted to be located in plasma membrane. Is expressed in basal plate midbrain region; epidermis; nervous system; pectoral fin; and pharyngeal arch. Human ortholog(s) of this gene implicated in autosomal recessive congenital nystagmus; combined or isolated pituitary hormone deficiency 8; congenital nystagmus; multiple myeloma; and plasmacytoma. Orthologous to human ROBO1 (roundabout guidance receptor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d100 (17 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive congenital nystagmus | Alliance | ?Nystagmus 8, congenital, autosomal recessive | 257400 |
| combined or isolated pituitary hormone deficiency 8 | Alliance | Pituitary hormone deficiency, combined or isolated, 8 | 620303 |
| Neurooculorenal syndrome | 620305 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR013106 | Immunoglobulin V-set domain |
| Domain | IPR032986 | Roundabout homologue 1, immunoglobulin-like domain 3 |
| Family | IPR051170 | Neural and epithelial cell adhesion domain-containing protein |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
Interactions and Pathways
No data available
Plasmids