Gene

rpgrip1

ID
ZDB-GENE-091204-394
Name
RPGR interacting protein 1
Symbol
rpgrip1 Nomenclature History
Previous Names
  • si:dkey-86e23.2
  • si:dkey-86e23.3 (1)
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Involved in photoreceptor cell outer segment organization and retinal rod cell development. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 6; Leber hereditary optic neuropathy; cone-rod dystrophy 13; and retinitis pigmentosa. Orthologous to human RPGRIP1 (RPGR interacting protein 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With rpgrip1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
cone-rod dystrophy 13 Alliance Cone-rod dystrophy 13 608194
Leber congenital amaurosis 6 Alliance Leber congenital amaurosis 6 613826
Associated With rpgrip1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Transcripts
Genome Browsers
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