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

Gene ID: 64221, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:13433
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
mouse all
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Genomic context

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Location:
11q24.2
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124865432..124881471)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124894054..124910095)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124735328..124751367)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Myb/SANT DNA binding domain containing 2 Neighboring gene NANOG hESC enhancer GRCh37_chr11:124663166-124663667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4031 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:124669881-124670488 Neighboring gene MSANTD2 antisense RNA 1 Neighboring gene E3 ubiquitin-protein ligase RNF181-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124712489-124713052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124713053-124713614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124732803-124733304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124735644-124736320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:124738370-124738900 Neighboring gene Sharpr-MPRA regulatory region 2144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4035 Neighboring gene Sharpr-MPRA regulatory region 10426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124756054-124756568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124756569-124757082 Neighboring gene uncharacterized LOC107984406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124767654-124768276 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Upregulation of ROBO3 promotes proliferation, migration and adhesion of AML cells and affects the survival of AML patients. Li C, et al. Biochem Biophys Res Commun, 2023 Jun 18. PMID 37084487
  2. [Expression of ROBO3 and Its Effect on Cell Proliferation and Apoptosis in Pediatric Patients with Acute Myeloid Leukemia]. Cai MS, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2022 Oct. PMID 36208230
  3. A Genetic Variant of the ROBO3 Gene is Associated With Adolescent Idiopathic Scoliosis in the Chinese Population. Zhang Z, et al. Spine (Phila Pa 1976), 2023 Jan 15. PMID 36149840
  4. ROBO3s: a novel ROBO3 short isoform promoting breast cancer aggressiveness. Werner M, et al. Cell Death Dis, 2022 Sep 3. PMID 36057630, Free PMC Article
  5. High ROBO3 expression predicts poor survival in non-M3 acute myeloid leukemia. Cai Z, et al. Exp Biol Med (Maywood), 2021 May. PMID 33541130, Free PMC Article

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.
    Title: Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.
  2. Upregulation of ROBO3 promotes proliferation, migration and adhesion of AML cells and affects the survival of AML patients.
    Title: Upregulation of ROBO3 promotes proliferation, migration and adhesion of AML cells and affects the survival of AML patients.
  3. A Genetic Variant of the ROBO3 Gene is Associated With Adolescent Idiopathic Scoliosis in the Chinese Population.
    Title: A Genetic Variant of the ROBO3 Gene is Associated With Adolescent Idiopathic Scoliosis in the Chinese Population.
  4. [Expression of ROBO3 and Its Effect on Cell Proliferation and Apoptosis in Pediatric Patients with Acute Myeloid Leukemia].
    Title: [Expression of ROBO3 and Its Effect on Cell Proliferation and Apoptosis in Pediatric Patients with Acute Myeloid Leukemia].
  5. ROBO3s: a novel ROBO3 short isoform promoting breast cancer aggressiveness.
    Title: ROBO3s: a novel ROBO3 short isoform promoting breast cancer aggressiveness.
  6. Axon guidance receptor ROBO3 modulates subtype identity and prognosis via AXL-associated inflammatory network in pancreatic cancer.
    Title: Axon guidance receptor ROBO3 modulates subtype identity and prognosis via AXL-associated inflammatory network in pancreatic cancer.
  7. High ROBO3 expression predicts poor survival in non-M3 acute myeloid leukemia.
    Title: High ROBO3 expression predicts poor survival in non-M3 acute myeloid leukemia.
  8. Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family.
    Title: Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family.
  9. Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.
    Title: Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.
  10. Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.
    Title: Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.
Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Gaze palsy, familial horizontal, with progressive scoliosis 1
MedGen: C4551964 OMIM: 607313 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21044

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cell-cell adhesion mediator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in axon guidance NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in axon midline choice point recognition ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in chemotaxis IEA
Inferred from Electronic Annotation
more info
  
involved_in dendrite self-avoidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of axon guidance IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001370356.1 → NP_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
    UniProtKB/TrEMBL
    B4DQG7
    Related
    ENST00000527196.5
    Conserved Domains (1) summary
    PRK12323
    Location:175 → 374
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional

  2. NM_001370357.1 → NP_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
    UniProtKB/TrEMBL
    B4DQG7
    Conserved Domains (1) summary
    PRK12323
    Location:175 → 374
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional

  3. NM_001370358.1 → NP_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
    UniProtKB/TrEMBL
    B4DQG7
    Related
    ENST00000525482.5
    Conserved Domains (1) summary
    PRK12323
    Location:175 → 374
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional

  4. NM_001370359.1 → NP_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
    UniProtKB/TrEMBL
    B4DQG7
    Conserved Domains (1) summary
    PRK12323
    Location:175 → 374
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional

  5. NM_001370361.1 → NP_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
    UniProtKB/TrEMBL
    B4DQG7
    Conserved Domains (1) summary
    PRK12323
    Location:175 → 374
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional

  6. NM_001370364.1 → NP_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
    UniProtKB/TrEMBL
    B4DQG7
    Conserved Domains (1) summary
    PRK12323
    Location:110 → 309
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional

  7. NM_001370366.1 → NP_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
    UniProtKB/TrEMBL
    B4DQG7
    Conserved Domains (1) summary
    PRK12323
    Location:110 → 309
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional

  8. NM_022370.4 → NP_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
    UniProtKB/TrEMBL
    F5GWJ5
    Related
    ENSP00000380903.1, ENST00000397801.6
    Conserved Domains (4) summary
    PRK12323
    Location:1126 → 1325
    PRK12323; DNA polymerase III subunit gamma/tau
    cd00063
    Location:556 → 649
    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 ...
    cd00096
    Location:348 → 352
    Ig; Ig strand A [structural motif]
    cl11960
    Location:348 → 445
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    124865432..124881471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    124894054..124910095
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96MS0.2 GenPept UniProtKB/Swiss-Prot:Q96MS0

Gene LinkOut

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