Gene
ofd1
- ID
- ZDB-GENE-030131-5427
- Name
- OFD1 centriole and centriolar satellite protein
- Symbol
- ofd1 Nomenclature History
- Previous Names
-
- wu:fa07a10
- wu:fd17e11
- zgc:92562
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Involved in convergent extension involved in gastrulation; determination of heart left/right asymmetry; and epithelial cilium movement involved in determination of left/right asymmetry. Localizes to centrosome; ciliary basal body; and nucleus. Human ortholog(s) of this gene implicated in Joubert syndrome 10; Simpson-Golabi-Behmel syndrome type 2; orofaciodigital syndrome I; retinitis pigmentosa; and retinitis pigmentosa 23. Is expressed in Kupffer's vesicle; lateral line primordium; neuromast; and otic vesicle. Orthologous to human OFD1 (OFD1 centriole and centriolar satellite protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7158387 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 10 | Alliance | Joubert syndrome 10 | 300804 |
| orofaciodigital syndrome I | Alliance | Orofaciodigital syndrome I | 311200 |
| retinitis pigmentosa 23 | Alliance | ?Retinitis pigmentosa 23 | 300424 |
| Simpson-Golabi-Behmel syndrome type 2 | Alliance | Simpson-Golabi-Behmel syndrome, type 2 | 300209 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR006594 | LIS1 homology motif |
Domain Details Per Protein
| Protein | Length | LIS1 homology motif |
|---|---|---|
|
UniProtKB:Q7SZK7
|
901 | |
|
UniProtKB:A0A8M3AWD4
|
954 | |
|
UniProtKB:F1QL50
|
902 | |
|
UniProtKB:A0A8M1N1T2
|
901 |
Interactions and Pathways
No data available
Plasmids
No data available