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

Gene ID: 64221, updated on 7-Jun-2020

Summary

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
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; HGPPS1
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. [provided by RefSeq, May 2019]
Expression
Ubiquitous expression in ovary (RPKM 7.2), spleen (RPKM 3.0) and 21 other tissues See more
Orthologs

Genomic context

See ROBO3 in Genome Data Viewer
Location:
11q24.2
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (124865432..124881471)
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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21044

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cell-cell adhesion mediator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon guidance ISS
Inferred from Sequence or Structural Similarity
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
 
chemoattraction of axon IEA
Inferred from Electronic Annotation
more info
 
commissural neuron axon guidance IEA
Inferred from Electronic Annotation
more info
 
dendrite self-avoidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
roundabout homolog 3
Names
retinoblastoma inhibiting gene 1
roundabout, axon guidance receptor, homolog 3
roundabout-like protein 3

NCBI Reference Sequences (RefSeq)

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
    5024..21063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001370356.1NP_001357285.1  roundabout homolog 3 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variants 3-6, encodes isoform b.
    Source sequence(s)
    AP003501
    Related
    ENST00000527196.5
    Conserved Domains (1) summary
    PRK12323
    Location:175374
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional
  2. NM_001370357.1NP_001357286.1  roundabout homolog 3 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 2 and 4-6, encodes isoform b.
    Source sequence(s)
    AP003501
    Conserved Domains (1) summary
    PRK12323
    Location:175374
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional
  3. NM_001370358.1NP_001357287.1  roundabout homolog 3 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 2, 3, 5, and 6, encodes isoform b.
    Source sequence(s)
    AP003501
    Related
    ENST00000525482.5
    Conserved Domains (1) summary
    PRK12323
    Location:175374
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional
  4. NM_001370359.1NP_001357288.1  roundabout homolog 3 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 2-4 and 6, encodes isoform b.
    Source sequence(s)
    AP003501
    Conserved Domains (1) summary
    PRK12323
    Location:175374
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional
  5. NM_001370361.1NP_001357290.1  roundabout homolog 3 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 2-5, encodes isoform b.
    Source sequence(s)
    AP003501
    Conserved Domains (1) summary
    PRK12323
    Location:175374
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional
  6. NM_001370364.1NP_001357293.1  roundabout homolog 3 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 8, encodes isoform c.
    Source sequence(s)
    AP003501
    Conserved Domains (1) summary
    PRK12323
    Location:110309
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional
  7. NM_001370366.1NP_001357295.1  roundabout homolog 3 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 7, encodes isoform c.
    Source sequence(s)
    AP003501
    Conserved Domains (1) summary
    PRK12323
    Location:110309
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional
  8. NM_022370.4NP_071765.2  roundabout homolog 3 isoform a precursor

    See identical proteins and their annotated locations for NP_071765.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AY509035, N80769
    Consensus CDS
    CCDS44755.1
    UniProtKB/Swiss-Prot
    Q96MS0
    Related
    ENSP00000380903.1, ENST00000397801.6
    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

RNA

  1. NR_163409.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP003501
  2. NR_163410.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP003501
  3. NR_163411.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP003501
  4. NR_163412.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK024697, AP003501
    Related
    ENST00000525448.5
  5. NR_163413.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP003501
  6. NR_163414.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP003501, BI914797
  7. NR_163415.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP003501, CN309949

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    124865432..124881471
    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, ENST00000538940.5
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