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FLASH GENE
Symbol RIT1 contributors: mct/npt - updated : 17-09-2013
HGNC name Ras-like without CAAX 1
HGNC id 10023
Corresponding disease
NS8 Noonan syndrome 8
Location 1q22      Physical location : 155.867.600 - 155.881.177
Synonym name
  • GTP-binding protein Roc1
  • Ric (Drosophila)-like, expressed in many tissues
  • COUP-TF-interacting protein 2
    • Synonym symbol(s) RIT, RIBB, ROC1, MGC125864, MGC125865, CTIP2
    DNA
    TYPE functioning gene
    STRUCTURE 13.59 kb     6 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3425 25 219 - Shi (2005)
    5 - 3306 - 183 - -
    6 - 3455 - 219 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear   highly
    Nervousbrain     Homo sapiensFetal
     brain   highly Homo sapiensAdult
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • highly conserved G3 and G4 domains of RAS proteins
    • HOMOLOGY
    Homologene
    FAMILY
  • Ras subfamily of small guanine triphosphatases (GTPases)
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may play important roles in the regulation of signaling pathways and cellular processes distinct from those controlled by Ras
  • implicated in a novel pathway of neuronal development and regeneration by coupling specific trophic factor signals to sustained activation of the B-Raf/ERK and p38 MAP kinase cascades
  • plays a key role in human neuronal development and regeneration through activating both known and as yet undefined signaling pathways
  • differentially regulates axonal and dendritic growth
  • may be involved in the signaling pathway for Goalpha-mediated neuronal differentiation
  • role for RIT1 in injury-induced neurogenesis, functioning as a selective survival mechanism for immature hippocampal neurons within the subgranular zone of the dentate gyrus following traumatic brain injury (TBI)
  • critical role for the RIT1-MAPK14 signaling cascade in promoting hippocampal neuron survival following oxidative stress
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • central regulator of MAPK14-dependent signaling cascade that functions as a critical cellular survival mechanism in response to stress
  • LZTR1 is a RIT1 interactor, that acts as an adaptor for protein degradation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NS8
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Rit1-null mice have been shown to grow to adulthood without any apparent abnormalities