Gene
aipl1
- ID
- ZDB-GENE-131121-577
- Name
- aryl hydrocarbon receptor interacting protein-like 1
- Symbol
- aipl1 Nomenclature History
- Previous Names
-
- aipl1a (1)
- si:dkey-230a20.1
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in visual perception. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Leber congenital amaurosis 4; blindness; and retinitis pigmentosa. Is expressed in brain; photoreceptor cell; retina; and retinal rod cell. Orthologous to human AIPL1 (aryl hydrocarbon receptor interacting protein like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| Leber congenital amaurosis 4 | Alliance | Cone-rod dystrophy | 604393 |
| Leber congenital amaurosis 4 | Alliance | Leber congenital amaurosis 4 | 604393 |
| Leber congenital amaurosis 4 | Alliance | Retinitis pigmentosa, juvenile | 604393 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001179 | FKBP-type peptidyl-prolyl cis-trans isomerase domain |
| Family | IPR039663 | AIP/AIPL1/TTC9 |
| Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
| Homologous_superfamily | IPR046357 | Peptidyl-prolyl cis-trans isomerase domain superfamily |
| Repeat | IPR019734 | Tetratricopeptide repeat |
Domain Details Per Protein
| Protein | Length | AIP/AIPL1/TTC9 | FKBP-type peptidyl-prolyl cis-trans isomerase domain | Peptidyl-prolyl cis-trans isomerase domain superfamily | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M1RMI7
|
460 | |||||
|
UniProtKB:E7F4I7
|
462 |
Interactions and Pathways
No data available
Plasmids
No data available