Gene
rsph1
- ID
- ZDB-GENE-041008-22
- Name
- radial spoke head component 1
- Symbol
- rsph1 Nomenclature History
- Previous Names
-
- im:6909388
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 24. Is expressed in Kupffer's vesicle; forerunner cell group; neural tube; pronephric duct; and spinal cord. Orthologous to human RSPH1 (radial spoke head component 1).
- Genome Resources
-
- Alliance (1)
- Gene:100003444 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6909388 (8 images)
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 |
|---|---|---|---|
| primary ciliary dyskinesia 24 | Alliance | Ciliary dyskinesia, primary, 24 | 615481 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Repeat | IPR003409 | MORN repeat |
Domain Details Per Protein
| Protein | Length | MORN repeat |
|---|---|---|
|
UniProtKB:A0A8M9PSN2
|
216 | |
|
UniProtKB:A0A0M3HEM6
|
232 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance