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FLASH GENE
Symbol ROBO1 contributors: mct/npt/pgu - updated : 22-05-2015
HGNC name roundabout, axon guidance receptor, homolog 1 (Drosophila)
HGNC id 10249
Location 3p12.3      Physical location : 78.646.387 - 79.817.059
Synonym name
  • deleted in U twenty twenty
  • axon guidance receptor
  • roundabout 1
    • Synonym symbol(s) SAX3, DUTT1, FLJ21882, MGC131599, MGC133277, ROBO, H-Robo-1
    DNA
    TYPE functioning gene
    STRUCTURE 992.67 kb     30 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked N status confirmed
    Map see DLEC1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    30 - 6895 181 1651 - 2009 19104841
    also called variant 1/isoform a or H-ROBO1
    - - 7568 177 1612 - 2009 19104841
  • also called variant 3/isoform b or DUTT1
  • alternative N terminus
    • - - 7385 169.5 1551 - 2009 19104841
    also called variant 4/isoform d
    29 - 7550 175.7 1606 - 2009 19104841
    also called variant 2/isoform b
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Endocrinepancreas     Homo sapiens
    Hearing/Equilibriumear   highly
    Nervousbraindiencephalonthalamus   Homo sapiensFetal
    Respiratorylung    
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Visualganglion cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five Ig-like domains
  • three fibronectin-like domains
  • a transmembrane segment and a long cytoplasmic tail
    • HOMOLOGY
    interspecies ortholog to Drosophila roundabout axon guidance receptor
    homolog to C.elegans sax3
    homolog to murine Robo1
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • ROBO family
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • translocation to the nucleus of cancer cells
  • could be found in the plasma membrane and cytosolic compartments typical for receptors of soluble ligands
    • basic FUNCTION
  • involved in axon guidance and controlling midline crossing
  • candidate tumor suppressor for lung and potentially kidney and breast cancers
  • 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
  • control the development of the lateral olfactory tract
  • essential for ROBO4-mediated filopodia induction
  • in cancer cells, may function beyond the receptor as a signaling molecule through stepwise cleavages and translocation to the nucleus
  • ROBO1 and ROBO2, are critical for longitudinal axon guidance by the SLIT family of chemorepellents
  • predominant receptor for guiding axons in ventral tracts and prevents midline crossing
  • normal crossing of the auditory pathways requires an adequate ROBO1 expression level
  • regulates the correct positioning of layers II/III pyramidal neurons in the neocortex
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text neurogenesis
    PATHWAY
    metabolism
    signaling signal transduction
  • SLIT/ROBO1 signaling is involved in regulating neural tube development by tightly coordinating cell proliferation and differentiation during neurulation
  • ROBO signaling modulates progenitor cell dynamics in the developing brain
    • a component
  • forms a heterodimeric complex with ROBO4
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SLIT receptor interacting with SLIT* by its extra cellular domain
  • interacting with SRGAP* by its intra cellular domain CC3
  • interact with ROBO4 and share molecules such as SLIT2, ENAH and ARHGAP1 (specific components of the Robo signaling apparatus that work together to guide directional migration of endothelial cells)
  • interacts with USP33 (required for Slit-induced ROBO1 redistribution to the plasma membrane without affecting the total ROBO1 protein level
  • interacting with DCC
  • TGFB1 induces ROBO1 expression specifically in the basal layer, functioning together with SLIT2 to restrict branch formation in basal cell of branching morphogenesis
  • LHX2 influences axon guidance and the topographical sorting of axons by regulating the expression of ROBO1 and ROBO2 guidance receptors, which are essential for these axons to establish correct connections in the cerebral cortex
  • LMO3 is a putative direct transcriptional target of GBX2 (GBX2 regulates the LIM transcriptional codes comprising LHX2, LHX9 and LMO3, which subsequently control the differential expression of ROBO1 and ROBO2 in the thalamus
  • GDI1 controls axonal midline crossing by regulating ROBO1 surface expression
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    of the U-twenty-twenty cell line of small cell lung carcinoma
    tumoral   LOH    
    in breast carcinoma with promoter methylation
    constitutional     --low  
    abnormalities of ROBO1 may lead to autism either by interfering with serotonergic system, or by disrupting neurodevelopment
    tumoral   LOH    
    in primary head and neck cancerous lesions
    tumoral       loss of function
    in human cancers and may regulate apoptosis and metastasis
    Susceptibility to autism
    Variant & Polymorphism
    Candidate gene
  • for susceptibility to dyslexia
  • inactivation of ROBO1 could be used as molecular signature for early detection and prognosis of the head and neck cancer
    • Marker
    Therapy target
    ANIMAL & CELL MODELS
    bronchial hyperplasia and dysplasia in knockout mice