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Description for Protein RPGR

retinitis pigmentosa GTPase regulator
13 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
None Available
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Retinitis pigmentosa 3 GTPase regulator; RP3; XLRP3; Retinitis pigmentosa 15, cone dystrophy 1 (X-linked); Retinitis pigmentosa GTPase regulator isoform C; CRD; COD1; PCDX; RP15; CORDX1; X-linked retinitis pigmentosa GTPase regulator; Retina-specific RPGR isoform; Retinitis pigmentosa GTPase regulator isoform B; Retinitis pigmentosa GTPase regulator isoform A
Approved Symbol:
RPGR
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Cone dystrophy, X-linked, 1(Pd);
  • Macular degeneration, X-linked atrophic(Pd);
  • Retinitis pigmentosa 15(Pd);
  • Retinitis pigmentosa 3(Pd);
  • Retinitis pigmentosa, X-linked, with deafness and sinorespiratory infections(Pd);
  • Retinitis pigmentosa, X-linked, with recurrent respiratory infections(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02425 Entrez Gene ID: 6103 OMIM ID: 312610 Swissprot Accession: Q92834; Q3KN84;