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MGP002637

UniProt Annotations

Entry Information
Gene Nameroundabout, axon guidance receptor, homolog 1 (Drosophila)
Protein EntryROBO1_HUMAN
UniProt IDQ9Y6N7
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q9Y6N7-1; Sequence=Displayed; Name=2; IsoId=Q9Y6N7-2; Sequence=VSP_010646; Note=Incomplete.; Name=3; IsoId=Q9Y6N7-3; Sequence=VSP_010643, VSP_010644, VSP_010645; Name=4; IsoId=Q9Y6N7-4; Sequence=VSP_010643, VSP_010644; Name=5; IsoId=Q9Y6N7-5; Sequence=VSP_043881, VSP_010645, VSP_043882; Note=No experimental confirmation available.; Name=6; IsoId=Q9Y6N7-6; Sequence=VSP_043881, VSP_010645, VSP_043882, VSP_046084; Note=No experimental confirmation available.;
FunctionReceptor for SLIT1 and SLIT2 which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development. In axon growth cones, the silencing of the attractive effect of NTN1 by SLIT2 may require the formation of a ROBO1-DCC complex. May be required for lung development. {ECO:0000269|PubMed:10102268}.
MiscellaneousMaps within a region of overlapping homozygous deletions characterized in both small cell lung cancer cell lines (SCLC) and in a breast cancer cell line. The promoter region of ROBO1 shows complete hypermethylation of CpG sites in the BT-20 breast tumor cell lines, some primary invasive breast carcinomasa and some primary clear cell renal cell carcinomas (CC-RCC).
PtmUbiquitinated. May be deubiquitinated by USP33 (By similarity). {ECO:0000250}.
SimilarityBelongs to the immunoglobulin superfamily. ROBO family. {ECO:0000305}.
SimilarityContains 3 fibronectin type-III domains. {ECO:0000255|PROSITE-ProRule:PRU00316}.
SimilarityContains 5 Ig-like C2-type (immunoglobulin-like) domains. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
SubunitHomodimer. Dimerization is mediated by the extracellular domain and is independent of SLIT liganding. Interacts with SLIT1 and SLIT2. {ECO:0000269|PubMed:10102268, ECO:0000269|PubMed:11404413, ECO:0000269|PubMed:17848514, ECO:0000269|PubMed:24673457}.
Tissue SpecificityWidely expressed, with exception of kidney. {ECO:0000269|PubMed:9608531}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ROBO1ID42140ch3p12.html";
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