ROBO1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2EO9, 2V9Q, 2V9T, 4HLJ
Identifiers
Aliases	ROBO1, DUTT1, SAX3, roundabout guidance receptor 1
External IDs	OMIM: 602430 MGI: 1274781 HomoloGene: 2206 GeneCards: ROBO1
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p12.3 Start 78,597,239 bp[1] End 79,767,998 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 C3.1 Start 72,105,194 bp[2] End 72,842,983 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence tibia human penis Achilles tendon periodontal fiber urethra vulva stromal cell of endometrium synovial joint visceral pleura Top expressed in cumulus cell habenula hair follicle olfactory tubercle maxillary prominence left lung lobe iris abdominal wall medial ganglionic eminence nucleus accumbens More reference expression data BioGPS n/a
Gene ontology Molecular function LRR domain binding protein binding identical protein binding axon guidance receptor activity Cellular component cytoplasm integral component of membrane cell projection membrane integral component of plasma membrane cell surface axon plasma membrane endoplasmic reticulum-Golgi intermediate compartment membrane Biological process positive regulation of Rho protein signal transduction negative regulation of chemokine-mediated signaling pathway cell differentiation negative regulation of mammary gland epithelial cell proliferation Roundabout signaling pathway positive regulation of axonogenesis nervous system development cell migration involved in sprouting angiogenesis axon guidance multicellular organism development chemotaxis heart development cell adhesion negative regulation of cell migration negative regulation of negative chemotaxis axon midline choice point recognition activation of cysteine-type endopeptidase activity involved in apoptotic process chemorepulsion involved in postnatal olfactory bulb interneuron migration homophilic cell adhesion via plasma membrane adhesion molecules positive regulation of MAP kinase activity positive regulation of vascular endothelial growth factor signaling pathway outflow tract septum morphogenesis aortic valve morphogenesis pulmonary valve morphogenesis endocardial cushion formation positive regulation of gene expression negative regulation of gene expression positive regulation of Notch signaling pathway involved in heart induction aorta development ventricular septum morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6091 19876 Ensembl ENSG00000169855 ENSMUSG00000022883 UniProt Q9Y6N7 O89026 RefSeq (mRNA) NM_001145845 NM_002941 NM_133631 NM_019413 RefSeq (protein) NP_001139317 NP_002932 NP_598334 NP_062286 Location (UCSC) Chr 3: 78.6 – 79.77 Mb Chr 16: 72.11 – 72.84 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Roundabout homolog 1 is a protein that in humans is encoded by the ROBO1 gene.^[5][6][7]

Function

Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The protein encoded by ROBO1 is structurally similar to a Drosophila integral membrane protein which is encoded by the Drosophila roundabout gene (a member of the immunoglobulin gene superfamily) and is both an axon guidance receptor and a cell adhesion receptor, known to be involved in the decision by axons to cross the central nervous system midline. Two transcript variants encoding different isoforms have been found for ROBO1.^[7]

Clinical significance

ROBO1 was implicated in a communication disorder based on a Finnish pedigree with severe dyslexia. Analyses revealed a translocation had occurred disrupting ROBO1.^[8] Study of the phonological memory component of the language acquisition system suggests that ROBO1 polymorphisms are associated with functioning in this system.^[9] The gene is thought to be related to the brain's ability to represent quantities, and is correlated with better math scores of young children in one limited study.^[10]