Gene
iqcb1
- ID
- ZDB-GENE-041212-47
- Name
- IQ motif containing B1
- Symbol
- iqcb1 Nomenclature History
- Previous Names
-
- nphp5 (1)
- zgc:101792
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable calmodulin binding activity. Acts upstream of or within opsin transport and pronephros development. Predicted to be active in cilium. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Senior-Loken syndrome; nephronophthisis; and retinitis pigmentosa 3. Orthologous to human IQCB1 (IQ motif containing B1).
- 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:7146634 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Senior-Loken syndrome | Alliance | Senior-Loken syndrome 5 | 609254 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | IQ calmodulin-binding motif-containing protein 1 | IQ motif, EF-hand binding site | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|
|
UniProtKB:A8KC58
|
295 | |||
|
UniProtKB:Q5PRA5
|
595 | |||
|
UniProtKB:A0A8M9QFC9
|
470 |
Interactions and Pathways
No data available
Plasmids
No data available