ROBO3

ROBO3 Gene 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]

Details

Type
Protein Coding
Official Symbol
ROBO3
Official Name
roundabout guidance receptor 3 [Source:HGNC Symbol;Acc:HGNC:13433]
Ensembl ID
ENSG00000154134
Bio databases IDs NCBI: 64221 Ensembl: ENSG00000154134
Aliases roundabout guidance receptor 3
Synonyms
HGPPS,HGPPS1,HGPS,RBIG1,RIG1,Robo3a,Robo3b,Robo3 (predicted),roundabout guidance receptor 3,Roundabout homolog 3
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • FN3
  • immunoglobulin domain
  • Immunoglobulin like
  • Purple acid Phosphatase, N-terminal domain
  • Immunoglobulin I-set domain
  • protein binding
  • Fibronectin type 3 domain
  • transmembrane receptor
  • Immunoglobulin V-set domain

Pathways

Biological processes and signaling networks where the ROBO3 gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • HSF2BP
  • UBE2E1
  • APOA1
  • PICK1
  • ZSWIM8
  • CCDC57
  • APP
  • SLIT2
  • NELL2
  • LNX1
disease
  • familial horizontal gaze palsy with progressive scoliosis type 1
  • preeclampsia
  • organismal death
  • gaze palsy
  • endometriosis
  • hereditary disorder
  • gestational diabetes mellitus
  • granulocytosis
  • familial horizontal gaze palsy with progressive scoliosis
regulated by
  • METTL3
  • RB
  • SRC
  • NTN1
  • ROBO3
  • doxorubicin
  • TGFB1
  • PAX2
  • mir-383
  • ATG5
regulates
  • IL6
  • IFN
  • SOX2
  • IRF8
  • ROBO3
  • DCC
  • ALDH3B1
  • TEAD1
  • ALDH1A1
  • ROBO1/2
role in cell
  • production in
  • expression in
  • induction in
  • proliferation
  • migration
  • guidance
  • crossover
  • development
  • tumorsphere formation by
  • contact repulsion

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cellular membrane
  • axons

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the ROBO3 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • chemotaxis
  • dendrite self-avoidance
  • axon guidance
  • axon midline choice point recognition
  • homophilic cell adhesion

CELLULAR COMPONENT

Where in the cell the gene product is active
  • membrane
  • plasma membrane
  • axon

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.