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FLASH GENE
Symbol RPGRIP1L contributors: mct/npt - updated : 12-01-2017
HGNC name RPGRIP1-like
HGNC id 29168
DNA
TYPE functioning gene
STRUCTURE 104.70 kb     27 Exon(s)
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
25 - 5959 - 1235 - 2007 17960139
27 - 6199 - 1315 - 2007 17960139
26 - 6786 - 1269 - 2007 17960139
- - 2529 - 125 - 2007 17960139
- - 893 - 78 - 2007 17960139
- - 6826 - 1281 - 2007 17960139
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiens
Lymphoid/Immunethymus   predominantly
Nervousbrainbasal nucleicaudate nucleus  
 braindiencephalonhypothalamus   Homo sapiens
Reproductivemale systemtestis  highly Homo sapiens
Urinarykidney   lowly Homo sapiens
Visualeyeretina  highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal C2 domain (residues 615-712) shows less homology to the C2 domain of PKC than does the C-terminal C2 motif five coiled-coil domains
  • two C2, protein kinase C (PKC) conserved motifs
  • multiple coiled-coil domains (extensive coiled-coil domains may regulate the assembly of functional nephrocystin complexes through intra- and intermolecular coupling of their coiled-coil domains)
  • C-terminal RID domain with homology to the RPGR-interacting domain of RPGRIP1
  • HOMOLOGY
    interspecies homolog to C.elegans hypothetical protein
    intraspecies homolog to RPGRIP1
    Homologene
    FAMILY
  • RPGRIP1 family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text localization to the ciliary axoneme, basal bodies and centrosome or cytoplasm suggests a shuttling between these different subcellular compartments
    basic FUNCTION
  • may be important role in controlling centriole positioning during primary cilium formation
  • TBXA2R interacting protein that regulates TBXA2R-mediated signal transduction negatively
  • might participate in what is now appreciated as an important pathway in human energy homeostasis by virtue of the obesity phenotype in the Bardet-Biedl and Alström syndromes
  • FTO and/or RPGRIP1L may participate in the leptin signaling pathway
  • FTO and RPGRIP1L participate in the control of food intake by modulating leptin sensitivity in the arcuate hypothalamic
  • having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
  • RPGRIP1 and RPGRIP1L function as cilium-specific scaffolds that recruit a NEK4 signaling network which regulates cilium stability
  • is essential for hair follicle morphogenesis likely through regulating primary cilia formation and the hedgehog signaling pathway
  • regulates proteasomal activity specifically at the basal body
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with NPHP4
  • interacting protein of the TBXA2R alpha and TBXA2R beta C-terminal region
  • FTO and RPGRIP1L (a ciliary gene located in close proximity to the transcriptional start site of FTO) are regulated by isoforms P200 and P110 of the transcription factor, CUX1
  • dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity
  • RPGRIP1L controls likely ciliary signaling by regulating the activity of the ciliary proteasome via PSMD2
  • MYO5A interacts with RPGRIP1L, a cilia-centrosomal protein that controls ciliary signaling and positioning, and MYO5A and RPGRIP1L can interact near the cilium base in ciliated RPE cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS7 , MKS5 , NPHP8 , COACH2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    causes an impairment of protein degradation and protein processing
    Susceptibility
  • to development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes
  • to vascular dementia (VaD)
  • Variant & Polymorphism other
  • common variant, A229T significantly compromises the interaction with RPGRIP1 and cause retinal degeneration
  • association between RPGRIP1L gene and susceptibility of VaD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • disrupting the Rpgrip1l gene in mice resulted in reduced proliferation and differentiation of follicular keratinocytes, leading to hair follicle developmental defects