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    ROBO3 roundabout guidance receptor 3 [ Homo sapiens (human) ]

    Gene ID: 64221, updated on 20-Apr-2017
    Official Symbol
    ROBO3provided by HGNC
    Official Full Name
    roundabout guidance receptor 3provided by HGNC
    Primary source
    HGNC:HGNC:13433
    See related
    Ensembl:ENSG00000154134 MIM:608630; Vega:OTTHUMG00000165934
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HGPS; RIG1; HGPPS; RBIG1
    Summary
    This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009]
    Orthologs
    Location:
    11q24.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (124865409..124881474)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124735305..124751370)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Myb/SANT DNA binding domain containing 2 Neighboring gene uncharacterized LOC100507283 Neighboring gene E3 ubiquitin-protein ligase RNF181 pseudogene Neighboring gene uncharacterized LOC107984406 Neighboring gene roundabout guidance receptor 4 Neighboring gene hepatic and glial cell adhesion molecule Neighboring gene hepatocellular carcinoma, down-regulated 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Axon guidance, organism-specific biosystem (from KEGG)
      Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, conserved biosystem (from KEGG)
      Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Regulation of Commissural axon pathfinding by Slit and Robo, organism-specific biosystem (from REACTOME)
      Regulation of Commissural axon pathfinding by Slit and Robo, organism-specific biosystemCommissural axons project to the floor plate, attracted by the interaction of their DCC receptors with netrin1 produced by floor plate cells. The axons are insensitive to the repulsive action of slit...
    • Signaling by Robo receptor, organism-specific biosystem (from REACTOME)
      Signaling by Robo receptor, organism-specific biosystemThe Roundabout (Robo) family encodes transmembrane receptors that regulate axonal guidance and cell migration. The major function of the Robo receptors is to mediate repulsion of the navigating growt...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ21044

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    Roundabout signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance NAS
    Non-traceable Author Statement
    more info
    PubMed 
    axon midline choice point recognition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    roundabout homolog 3
    Names
    retinoblastoma inhibiting gene 1
    roundabout, axon guidance receptor, homolog 3
    roundabout-like protein 3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016214.1 RefSeqGene

      Range
      5001..21066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022370.3NP_071765.2  roundabout homolog 3 precursor

      See identical proteins and their annotated locations for NP_071765.2

      Status: REVIEWED

      Source sequence(s)
      AY509035, N80769
      Consensus CDS
      CCDS44755.1
      UniProtKB/Swiss-Prot
      Q96MS0
      Related
      ENSP00000380903.1, OTTHUMP00000231536, ENST00000397801.5, OTTHUMT00000387091
      Conserved Domains (4) summary
      smart00408
      Location:465528
      IGc2; Immunoglobulin C-2 Type
      cd00063
      Location:556649
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:258343
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:361450
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      124865409..124881474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018122.1XP_016873611.1  roundabout homolog 3 isoform X1

      UniProtKB/TrEMBL
      F5GWJ5
      Related
      ENSP00000441797.1, OTTHUMP00000236847, ENST00000538940.5, OTTHUMT00000396259

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      124621414..124637480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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