Gene

rpgra

ID
ZDB-GENE-070912-423
Name
retinitis pigmentosa GTPase regulator a
Symbol
rpgra Nomenclature History
Previous Names
  • rpgr1 (1)
  • rpgr
  • si:dkey-19h21.4
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Is expressed in several structures, including eye; gonad; muscle; neural tube; and optic cup. Human ortholog(s) of this gene implicated in X-linked cone-rod dystrophy 1; retinitis pigmentosa; and retinitis pigmentosa 3. Orthologous to human RPGR (retinitis pigmentosa GTPase regulator).
Genome Resources
Note
None
Expression
All Expression Data
Fig. 2 from Shu et al., 2010
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. 1 from Gerner et al., 2010
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With rpgra Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
retinitis pigmentosa 3 Alliance Retinitis pigmentosa 3 300029
X-linked cone-rod dystrophy 1 Alliance Cone-rod dystrophy, X-linked, 1 304020
Macular degeneration, X-linked atrophic 300834
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 300455
Associated With rpgra Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Homologous_superfamily IPR009091 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
Repeat IPR000408 Regulator of chromosome condensation, RCC1
Domain Details Per Protein
Protein Length Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II Regulator of chromosome condensation, RCC1
UniProtKB:F1QYU9 1691
UniProtKB:F1QV77 1698
UniProtKB:D2X898 1697
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-rpgr polyclonal IgG Rabbit
  • IHC
Atlas Antibodies AB
3
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations