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FLASH GENE
Symbol RPGRIP1L contributors: mct/npt - updated : 12-01-2017
HGNC name RPGRIP1-like
HGNC id 29168
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