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roundabout homolog 3 (roundabout-like protein 3, ROBO3)
Function:
1) role in neural development
- role in axonal navigation at ventral midline of the neural tub
2) role in spinal cord development
- role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (putative)
3) required for hindbrain axon midline crossing
4) probably interacts with SLIT2
Structure:
1) belongs to the immunoglobulin superfamily, ROBO family
2) contains 3 fibronectin F3 modules
- contains 5 Ig-like C2-type domains (immunoglobulin-like)
Compartment: membrane
Alternative splicing: named isoforms=2
Pathology:
- defects in ROBO3 are a cause of familial horizontal gaze palsy with progressive scoliosis
General
glycoprotein
immunoglobulin superfamily protein
membrane protein
Properties
SIZE: MW = 148 kD
entity length = 1386 aa
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-20}
N-glycosylation site {N25}
N-glycosylation site {N34}
N-glycosylation site {N41}
N-glycosylation site {N53}
immunoglobulin superfamily domain {64-160}
MOTIF: cysteine residue {C85}
MODIFICATION: cysteine residue {C143}
cysteine residue {C143}
MODIFICATION: cysteine residue {C85}
N-glycosylation site {N156}
immunoglobulin superfamily domain {166-253}
MOTIF: cysteine residue {C187}
MODIFICATION: cysteine residue {C236}
cysteine residue {C236}
MODIFICATION: cysteine residue {C187}
immunoglobulin superfamily domain {258-342}
MOTIF: cysteine residue {C279}
MODIFICATION: cysteine residue {C326}
cysteine residue {C326}
MODIFICATION: cysteine residue {C279}
immunoglobulin superfamily domain {347-440}
MOTIF: cysteine residue {C368}
MODIFICATION: cysteine residue {C424}
N-glycosylation site {N410}
cysteine residue {C424}
MODIFICATION: cysteine residue {C368}
immunoglobulin superfamily domain {450-531}
MOTIF: N-glycosylation site {N459}
cysteine residue {C472}
MODIFICATION: cysteine residue {C521}
N-glycosylation site {N503}
cysteine residue {C521}
MODIFICATION: cysteine residue {C472}
fibronectin type III domain or F3 module {555-647}
fibronectin type III domain or F3 module {669-762}
fibronectin type III domain or F3 module {768-863}
MOTIF: N-glycosylation site {N784}
N-glycosylation site {N813}
N-glycosylation site {N820}
transmembrane domain {892-912}
Database Correlations
OMIM correlations
MORBIDMAP 608630
UniProt Q96MS0
PFAM correlations
References
- UniProt :accession Q96MS0
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ROBO3