Recombinant Human Roundabout homolog 3 (ROBO3), Truncated

Uniprot Id

Q96MS0

Target Species

Human

Target Name

ROBO3

Target Full Name

Roundabout homolog 3

Target Function

Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube. In spinal chord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1. Required for hindbrain axon midline crossing.

Target Involvement

Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1)

Target Subcellular Location

Membrane; Single-pass type I membrane protein.

Target Protein Families

Immunoglobulin superfamily, ROBO family

Target Synonyms

FLJ21044; HGPPS; HGPS; RB inhibiting gene 1; Rbig 1; Rbig1; Retinoblastoma inhibiting gene 1; Rig 1; Rig1; Robo 3; Robo3; Robo3 protein; ROBO3_HUMAN; Roundabout axon guidance receptor homolog 3; Roundabout homolog 3; Roundabout like protein 3; Roundabout, axon guidance receptor, homolog 3 (Drosophila); Roundabout-like protein 3

Target Background

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.