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FLASH GENE

Symbol

ROBO3

contributors: mct/pgu/shn - updated : 06-05-2012

HGNC name	roundabout, axon guidance receptor, homolog 3 (Drosophila)
HGNC id	13433

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HGPPS gaze palsy, familial horizontal, with progressive scoliosis
Location	11q24.2      Physical location : 124.735.304 - 124.751.370
Synonym name	roundabout-like protein 3
	retinoblastoma inhibiting gene 1
	horizontal gaze palsy with progressive scoliosis
	roundabout (axon guidance receptor, Drosophila) homolog 3
Synonym symbol(s)	RBIG1, FLJ21044, RIG-1, HGPS, HGPPS, RIG1

DNA

TYPE	functioning gene
STRUCTURE	16.07 kb     28 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D11S1752 - D11S933 - ROBO3 - D11S4158 - D11S975 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022370 28 - 4554 NP_071765 148 1386 - 2005 16226035 variant 2 - - - isoform 2 - - - 2005 16226035 also called ROBO3A differ from ROBO3B by the insertion of 26 amino acids at the N-terminus variant 3 - - - isoform 3 - - - 2005 16226035 also called ROBO3B

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland       highly Lymphoid/Immune spleen       highly Nervous brain

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

Text	hindbrain and spinal cord (

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a putative extracellular segment
	five Ig-like motifs
	three fibronectin-like motifs
	a transmembrane segment
	an intracellular segment
	two cytoplasmic signaling motifs CC2 and CC3

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to Robo3, Mus musculus
	ortholog to Robo3, Rattus norvegicus
	ortholog to robo3, Danio rerio
	ortholog to ROBO3, Pan troglodytes

Homologene

FAMILY	immunoglobulin superfamily
	ROBO family

CATEGORY

regulatory , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus

basic FUNCTION	playing a role in guiding commissural axons prior to crossing the midline and required for hindbrain axon midline crossing
	plays a key role in axon guidance and cell migration in the developing nervous system
	negative regulator of SLIT1 responsiveness
	plays a crucial role in controlling axon guidance at the midline of the CNS
	key role for Robo-Slit signaling in vertebrate longitudinal axon guidance and highlight the importance of context-specific guidance cues during navigation within complex pathways
	roles of Robo proteins in midline crossing of cerebellofugal axons and lack of their up-regulation after midline crossing
	play significant roles in the formation of axonal tracks in the developing forebrain and in the migration and morphological differentiation of cortical interneurons (

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

development , nervous system

text	nervous system development

PATHWAY

metabolism

signaling

ROBO signaling modulates progenitor cell dynamics in the developing brain

a component

INTERACTION

DNA

RNA

small molecule

protein	with SLIT2
	can bind homophilically, but it is also capable of binding heterophilically to ROBO1 and NCAM
	LHX2 binds to a conserved motif in the ROBO3 gene, suggesting that LHX2/LHX9 regulate directly the expression of ROBO3
	SLIT1 acts via ROBO2 in dendrites as a branching/growth factor but not in guidance, while ROBO2 and ROBO3 function in concert in axons to mediate axonal interactions and respond to Slits as guidance factors
	MSI1 binds to ROBO3 mRNA through RNA recognition motifs and increases the protein level of ROBO3 without affecting its mRNA level

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HGPPS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice lacking Slit2 or Robo3 have a reduced number of GnRH neurons in the forebrain, but a normal complement of their supporting axons, pointing to a direct role for these molecules in GnRH neuron migration