ROBO3
entrez
64221
canonical
uniprot
Q96MS0
canonical
ensembl
ENSG00000154134
resolver
ensp
ENSP00000380903
resolver
genesymbol
ROBO3
resolver
hgnc
HGNC:13433
resolver
uniprot_entry
ROBO3_HUMAN
resolver
amino_acid_sequence
MLRYLLKTLLQMNLFADSLAGDISNSSELLLGFNSSLAALNHTLLPPGDPSLNGSRVGPEDAMPRIVEQPPDLLVSRGEPATLPCRAEGRPRPNIEWYKNGARVATVREDPRAHRLLLPSGALFFPRIVHGRRARPDEGVYTCVARNYLGAAASRNASLEVAVLRDDFRQSPGNVVVAVGEPAVLECVPPRGHPEPSVSWRKDGARLKEEEGRITIRGGKLMMSHTLKSDAGMYVCVASNMAGERESAAAEVMVLERPSFLRRPVNQVVLADAPVTFLCEVKGDPPPRLRWRKEDGELPTGRYEIRSDHSLWIGHVSAEDEGTYTCVAENSVGRAEASGSLSVHVPPQLVTQPQDQMAAPGESVAFQCETKGNPPPAIFWQKEGSQVLLFPSQSLQPTGRFSVSPRGQLNITAVQRGDAGYYVCQAVSVAGSILAKALLEIKGASLDGLPPVILQGPANQTLVLGSSVWLPCRVTGNPQPSVRWKKDGQWLQGDDLQFKTMANGTLYIANVQEMDMGFYSCVAKSSTGEATWSGWLKMREDWGVSPDPPTEPSSPPGAPSQPVVTEITKNSITLTWKPNPQTGAAVTSYVIEAFSPAAGNTWRTVADGVQLETHTVSGLQPNTIYLFLVRAVGAWGLSEPSPVSEPVRTQDSSPSRPVEDPWRGQQGLAEVAVRLQEPIVLGPRTLQVSWTVDGPVQLVQGFRVSWRVAGPEGGSWTMLDLQSPSQQSTVLRGLPPGTQIQIKVQAQGQEGLGAESLSVTRSIPEEAPSGPPQGVAVALGGDGNSSITVSWEPPLPSQQNGVITEYQIWCLGNESRFHLNRSAAGWARSAMLRGLVPGLLYRTLVAAATSAGVGVPSAPVLVQLPSPPDLEPGLEVGAGLAVRLARVLREPAFLAGSGAACGALLLGLCAALYWRRKQRKELSHYTASFAYTPAVSFPHSEGLSGASSRPPMGLGPAPYSWLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYSTIDPAGEELQTFHGGFPQHPSGDLGPWSQYAPPEWSQGDSGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSCLEGPEEELEGSSEPEEWCPPMPERSHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSVSQPMLGIREARPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRRENSPGDLPPPPLPPPEEEASWALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPSFLSRGQGTSTCSTAGSNSSRGSSSSRGSRGPGRSRSRSQSRSQSQRPGQKRREEPR
uniprot
proteins
disease_involvement
DISEASE: Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]: An autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth, childhood-onset progressive scoliosis, distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways. {ECO:0000269|PubMed:15105459}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor involved in axon guidance during development (PubMed:15105459). Acts as a multifunctional regulator of pathfinding that simultaneously mediates NELL2 repulsion, inhibits SLIT repulsion, and facilitates Netrin-1/NTN1 attraction. In spinal cord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1/ROBO2. Binding OF NELL2 to the receptor ROBO3 promotes oligomerization of ROBO3, resulting in the repulsion of commissural axons in the midline. ROBO3 also indirectly boosts axon attraction to NTN1 without interacting with NTN1 itself (By similarity). {ECO:0000250|UniProtKB:Q9Z2I4, ECO:0000269|PubMed:15105459}.
uniprot
proteins
mass_dalton
148209
uniprot
proteins
mutagenesis
MUTAGEN 594; /note="F->A: Abolishes binding to NELL2; when associated with A-602."; /evidence="ECO:0000269|PubMed:32198364"; MUTAGEN 600; /note="N->A: Does not affect binding to NELL2; when associated with A-601."; /evidence="ECO:0000269|PubMed:32198364"; MUTAGEN 601; /note="T->A: Does not affect binding to NELL2; when associated with A-600."; /evidence="ECO:0000269|PubMed:32198364"; MUTAGEN 602; /note="W->A: Abolishes binding to NELL2; when associated with A-594."; /evidence="ECO:0000269|PubMed:32198364"; MUTAGEN 604; /note="T->A: Decreases binding to NELL2."; /evidence="ECO:0000269|PubMed:32198364"; MUTAGEN 624; /note="I->A: Decreases binding to NELL2; when associated with A-626."; /evidence="ECO:0000269|PubMed:32198364"; MUTAGEN 626; /note="L->A: Decreases binding to NELL2; when associated with A-624."; /evidence="ECO:0000269|PubMed:32198364"; MUTAGEN 630; /note="R->A: Abolishes binding to NELL2."; /evidence="ECO:0000269|PubMed:32198364"; MUTAGEN 635; /note="W->A: Does not affect binding to NELL2."; /evidence="ECO:0000269|PubMed:32198364"; MUTAGEN 639; /note="E->A: Does not affect binding to NELL2."; /evidence="ECO:0000269|PubMed:32198364
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
protein_family
ROBO family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15105459
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
32198364
uniprot
proteins
sequence_length
1386
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q9Z2I4}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 892..912; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins