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 enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be located in cytoplasm and nucleus. Is expressed in brain; photoreceptor cell; retina; and retinal rod cell. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Leber congenital amaurosis 4; blindness; and retinitis pigmentosa. 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
No data available
No data available
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 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR056277 | AIP/AIPL, N-terminal FKBP-type PPIase 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 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | AIP/AIPL1/TTC9 | AIP/AIPL, N-terminal FKBP-type PPIase domain | Peptidyl-prolyl cis-trans isomerase domain superfamily | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1RMI7 | InterPro | 460 | |||||
| UniProtKB:E7F4I7 | InterPro | 462 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-230A20 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_003200052 (1) | 1668 nt | ||
| Genomic | GenBank:BX005404 (1) | 229643 nt | ||
| Polypeptide | UniProtKB:E7F4I7 (1) | 462 aa |
- Sun, C., Galicia, C., Stenkamp, D.L. (2018) Transcripts within rod photoreceptors of the Zebrafish retina. BMC Genomics. 19:127
- Iribarne, M., Nishiwaki, Y., Nakamura, S., Araragi, M., Oguri, E., Masai, I. (2017) Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish. Scientific Reports. 7:45962
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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