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
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With aipl1 Human Ortholog
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
Associated With aipl1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA aipl1-201 (1) Ensembl 1,595 nt
mRNA aipl1-202 (1) Ensembl 1,719 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations