Gene
nphp1
- ID
- ZDB-GENE-060929-1234
- Name
- nephronophthisis 1
- Symbol
- nphp1 Nomenclature History
- Previous Names
-
- im:7162391
- wu:fi59g07
- zgc:152930
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Acts upstream of or within glial cell development; pronephros development; and retina development in camera-type eye. Predicted to be active in cilium and cytoplasm. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1. Orthologous to human NPHP1 (nephrocystin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7162391 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 4 | Alliance | Joubert syndrome 4 | 609583 |
| nephronophthisis 1 | Alliance | Nephronophthisis 1, juvenile | 256100 |
| Senior-Loken syndrome | Alliance | Senior-Loken syndrome-1 | 266900 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Nephrocystin-1 | Nephrocystin-1, SH3 domain | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:Q08CL9 | InterPro | 667 |
1 - 1 of 1
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available