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FLASH GENE
Symbol RPGRIP1 contributors: mct - updated : 26-11-2010
HGNC name retinitis pigmentosa GTPase regulator interacting protein 1
HGNC id 13436
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C2 domains at the N-terminus
  • two coiled-coil domains in the central part (SMC domain), (coiled-coil domain is normally found in proteins involved in vesicular trafficking)
  • a RPGR interacting globular domain (RID) at the C terminus
  • a C2 domain specifically binded to nephrocystin-4, encoded by NPHP4
    • HOMOLOGY
    intraspecies homolog to KIAA1005 in the brain
    Homologene
    FAMILY
  • RPGRIP1 family
    • CATEGORY regulatory , transcription factor , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • outer segment, and cytoskeleton of outer segment and nucleus (isoform RPGRIP1E)
  • localized in the photoreceptor-connecting cilium
    • basic FUNCTION
  • playing a role in anchor RPGR within the cilium
  • required for normal disk morphogenesis
  • essential for rod outer segments formation
  • havong essential function for photoreceptor maintenance
  • may facilitate the orchestration of multiple ciliary protein complexes
  • RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a NEK4 signaling network which regulates cilium stability
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport
    text vesicular trafficking
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • structural component of the ciliary axoneme, acting as a scaffold for other proteins necessary for the transport of molecules through the connecting cilia from the inner segments
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RPGR
  • RANBP2 in amacrine neurons
  • nephrocystin-4
    • cell & other
    REGULATION
    Other regulated by the Rid domain and by its partner RPGR
    ASSOCIATED DISORDERS
    corresponding disease(s) LCA6 , DEL14QP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    involvement of disrupted interaction with NPHP4 in the retinal dystrophy of both SLSN4 and LCA6 patients
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of leber congenital amaurosis