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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
RNA
TRANSCRIPTS type messenger
text these isoforms have been described before the complete structure of the gene was known
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 3100 103 902 - 2005 15914599
also called RPGRIP1D
- splicing 2000 67.3 586 - 2005 15914599
  • also called RPGRIP1C
  • excluding exons 5-7 (14-16)
  • - - 2393 76.4 669 retina 2005 15914599
    also called RPGRIP1A
    - - 2160 - 645 retina 2005 15914599
  • also called RPGRIP1B
  • arises from the extension of exon 13, leading to the premature truncation and deletion of C2 and RID domains
  • dispersed as punctate foci throughout the perikarya, where it colocalizes with a subpopulation of lysosomes
  • 24 splicing 3950 146.7 1286 - 2001 11528500
    also called RPGRIP1E
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis    Homo sapiens
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualamacrine cell
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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