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FLASH GENE
Symbol ROBO3 contributors: mct/pgu/shn - updated : 06-05-2012
HGNC name roundabout, axon guidance receptor, homolog 3 (Drosophila)
HGNC id 13433
Corresponding disease
HGPPS gaze palsy, familial horizontal, with progressive scoliosis
Location 11q24.2      Physical location : 124.735.304 - 124.751.370
Synonym name
  • roundabout-like protein 3
  • retinoblastoma inhibiting gene 1
  • horizontal gaze palsy with progressive scoliosis
  • roundabout (axon guidance receptor, Drosophila) homolog 3
  • Synonym symbol(s) RBIG1, FLJ21044, RIG-1, HGPS, HGPPS, RIG1
    DNA
    TYPE functioning gene
    STRUCTURE 16.07 kb     28 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D11S1752 - D11S933 - ROBO3 - D11S4158 - D11S975 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 4554 148 1386 - 2005 16226035
    - - - - - - 2005 16226035
  • also called ROBO3A
  • differ from ROBO3B by the insertion of 26 amino acids at the N-terminus
  • - - - - - - 2005 16226035
    also called ROBO3B
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
    Lymphoid/Immunespleen   highly
    Nervousbrain    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text hindbrain and spinal cord (
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a putative extracellular segment
  • five Ig-like motifs
  • three fibronectin-like motifs
  • a transmembrane segment
  • an intracellular segment
  • two cytoplasmic signaling motifs CC2 and CC3
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Robo3, Mus musculus
    ortholog to Robo3, Rattus norvegicus
    ortholog to robo3, Danio rerio
    ortholog to ROBO3, Pan troglodytes
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • ROBO family
  • CATEGORY regulatory , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in guiding commissural axons prior to crossing the midline and required for hindbrain axon midline crossing
  • plays a key role in axon guidance and cell migration in the developing nervous system
  • negative regulator of SLIT1 responsiveness
  • plays a crucial role in controlling axon guidance at the midline of the CNS
  • key role for Robo-Slit signaling in vertebrate longitudinal axon guidance and highlight the importance of context-specific guidance cues during navigation within complex pathways
  • roles of Robo proteins in midline crossing of cerebellofugal axons and lack of their up-regulation after midline crossing
  • play significant roles in the formation of axonal tracks in the developing forebrain and in the migration and morphological differentiation of cortical interneurons (
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS development , nervous system
    text nervous system development
    PATHWAY
    metabolism
    signaling
  • ROBO signaling modulates progenitor cell dynamics in the developing brain
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with SLIT2
  • can bind homophilically, but it is also capable of binding heterophilically to ROBO1 and NCAM
  • SLIT1 acts via ROBO2 in dendrites as a branching/growth factor but not in guidance, while ROBO2 and ROBO3 function in concert in axons to mediate axonal interactions and respond to Slits as guidance factors
  • MSI1 binds to ROBO3 mRNA through RNA recognition motifs and increases the protein level of ROBO3 without affecting its mRNA level
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HGPPS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Slit2 or Robo3 have a reduced number of GnRH neurons in the forebrain, but a normal complement of their supporting axons, pointing to a direct role for these molecules in GnRH neuron migration