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Aliases for ROBO1 Gene

Aliases for ROBO1 Gene

  • Roundabout Guidance Receptor 1 2 3 5
  • Deleted In U Twenty Twenty 3 4
  • DUTT1 3 4
  • Roundabout, Axon Guidance Receptor, Homolog 1 (Drosophila) 2
  • Roundabout (Axon Guidance Receptor, Drosophila) Homolog 1 2
  • Roundabout, Axon Guidance Receptor, Homolog 1 3
  • H-Robo-1 4
  • SAX3 3

External Ids for ROBO1 Gene

Previous GeneCards Identifiers for ROBO1 Gene

  • GC03M076410
  • GC03M078320
  • GC03M078452
  • GC03M078729

Summaries for ROBO1 Gene

Entrez Gene Summary for ROBO1 Gene

  • 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 product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for ROBO1 Gene

ROBO1 (Roundabout Guidance Receptor 1) is a Protein Coding gene. Diseases associated with ROBO1 include vesicoureteral reflux 2 and dyslexia. Among its related pathways are Developmental Biology and Development Slit-Robo signaling. GO annotations related to this gene include identical protein binding and LRR domain binding. An important paralog of this gene is IGDCC3.

UniProtKB/Swiss-Prot for ROBO1 Gene

  • Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (PubMed:10102268, PubMed:24560577). Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1 (PubMed:24560577). 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 (By similarity).

Gene Wiki entry for ROBO1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ROBO1 Gene

Genomics for ROBO1 Gene

Regulatory Elements for ROBO1 Gene

Promoters for ROBO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ROBO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ROBO1 Gene

Chromosome:
3
Start:
78,597,238 bp from pter
End:
79,767,998 bp from pter
Size:
1,170,761 bases
Orientation:
Minus strand

Genomic View for ROBO1 Gene

Genes around ROBO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ROBO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ROBO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ROBO1 Gene

Proteins for ROBO1 Gene

  • Protein details for ROBO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6N7-ROBO1_HUMAN
    Recommended name:
    Roundabout homolog 1
    Protein Accession:
    Q9Y6N7
    Secondary Accessions:
    • B2RXI1
    • D3DU36
    • E9PD49
    • Q1RMC7
    • Q7Z300
    • Q9BUS7

    Protein attributes for ROBO1 Gene

    Size:
    1651 amino acids
    Molecular mass:
    180930 Da
    Quaternary structure:
    • Homodimer. Dimerization is mediated by the extracellular domain and is independent of SLIT liganding (PubMed:24673457). Interacts with SLIT1 (By similarity). Interacts with SLIT2 (PubMed:10102268, PubMed:11404413, PubMed:17848514). Interacts with FLRT3 (PubMed:24560577).
    Miscellaneous:
    • Maps 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).

    Three dimensional structures from OCA and Proteopedia for ROBO1 Gene

    Alternative splice isoforms for ROBO1 Gene

neXtProt entry for ROBO1 Gene

Proteomics data for ROBO1 Gene at MOPED

Post-translational modifications for ROBO1 Gene

  • Ubiquitinated. May be deubiquitinated by USP33 (By similarity).
  • Ubiquitination at Lys 1051
  • Glycosylation at Asn 160, Asn 463, Thr 660, Asn 790, Asn 820, and Asn 827
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ROBO1 Gene

Domains & Families for ROBO1 Gene

Suggested Antigen Peptide Sequences for ROBO1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6N7

UniProtKB/Swiss-Prot:

ROBO1_HUMAN :
  • Contains 3 fibronectin type-III domains.
  • Belongs to the immunoglobulin superfamily. ROBO family.
Domain:
  • Contains 3 fibronectin type-III domains.
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. ROBO family.
genes like me logo Genes that share domains with ROBO1: view

Function for ROBO1 Gene

Molecular function for ROBO1 Gene

GENATLAS Biochemistry:
Drosophila round about homolog 1,also homolog to C elegans sex3,neural cell adhesion molecule family member,widely expressed,involved in axon guidance and controlling midline crossing
UniProtKB/Swiss-Prot Function:
Receptor for SLIT1 and SLIT2 that mediates cellular responses to molecular guidance cues in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development (PubMed:10102268, PubMed:24560577). Interaction with the intracellular domain of FLRT3 mediates axon attraction towards cells expressing NTN1 (PubMed:24560577). 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 (By similarity).
genes like me logo Genes that share phenotypes with ROBO1: view

Animal Models for ROBO1 Gene

MGI Knock Outs for ROBO1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ROBO1 Gene

Localization for ROBO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ROBO1 Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, axon. Note=Detected at growth cones in thalamus neurons. {ECO:0000250 UniProtKB:O89026}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ROBO1 Gene COMPARTMENTS Subcellular localization image for ROBO1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ROBO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9608531
genes like me logo Genes that share ontologies with ROBO1: view

Pathways & Interactions for ROBO1 Gene

genes like me logo Genes that share pathways with ROBO1: view

Pathways by source for ROBO1 Gene

1 GeneGo (Thomson Reuters) pathway for ROBO1 Gene

SIGNOR curated interactions for ROBO1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ROBO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IMP 18566128
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IDA 12504588
GO:0007399 nervous system development TAS 9608531
GO:0016199 axon midline choice point recognition ISS --
GO:0021836 chemorepulsion involved in postnatal olfactory bulb interneuron migration IDA 15207848
genes like me logo Genes that share ontologies with ROBO1: view

Drugs & Compounds for ROBO1 Gene

(1) Drugs for ROBO1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ROBO1: view

Transcripts for ROBO1 Gene

mRNA/cDNA for ROBO1 Gene

(10) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ROBO1 Gene

Roundabout, axon guidance receptor, homolog 1 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ROBO1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - - -
SP2: -
SP3: -
SP4: -
SP5:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ROBO1 Gene

GeneLoc Exon Structure for
ROBO1
ECgene alternative splicing isoforms for
ROBO1

Expression for ROBO1 Gene

mRNA expression in normal human tissues for ROBO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ROBO1 Gene

This gene is overexpressed in Cerebrospinal fluid (39.7), Serum (8.5), and Fetal Brain (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ROBO1 Gene



SOURCE GeneReport for Unigene cluster for ROBO1 Gene Hs.744218

mRNA Expression by UniProt/SwissProt for ROBO1 Gene

Q9Y6N7-ROBO1_HUMAN
Tissue specificity: Widely expressed, with exception of kidney.
genes like me logo Genes that share expression patterns with ROBO1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ROBO1 Gene

Orthologs for ROBO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ROBO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ROBO1 36
  • 99 (a)
OneToOne
ROBO1 35
  • 99.41 (n)
  • 99.43 (a)
cow
(Bos Taurus)
Mammalia ROBO1 35
  • 92 (n)
  • 97.03 (a)
ROBO1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ROBO1 36
  • 97 (a)
OneToOne
ROBO1 35
  • 92.41 (n)
  • 97.33 (a)
mouse
(Mus musculus)
Mammalia Robo1 16
Robo1 36
  • 95 (a)
OneToOne
Robo1 35
  • 88.48 (n)
  • 95.92 (a)
oppossum
(Monodelphis domestica)
Mammalia ROBO1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ROBO1 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Robo1 35
  • 87.89 (n)
  • 94.48 (a)
chicken
(Gallus gallus)
Aves ROBO1 35
  • 82.34 (n)
  • 90.79 (a)
ROBO1 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ROBO1 36
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4819 35
tropical clawed frog
(Silurana tropicalis)
Amphibia robo1 35
  • 76.84 (n)
  • 85.05 (a)
zebrafish
(Danio rerio)
Actinopterygii robo1 36
  • 68 (a)
OneToOne
robo1 35
  • 66.77 (n)
  • 71.52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010242 35
  • 46.3 (n)
  • 38.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta lea 36
  • 26 (a)
ManyToMany
robo 36
  • 29 (a)
ManyToMany
robo3 36
  • 28 (a)
ManyToMany
lea 37
  • 39 (a)
robo 37
  • 38 (a)
robo3 37
  • 35 (a)
robo3 35
  • 45.75 (n)
  • 36.8 (a)
worm
(Caenorhabditis elegans)
Secernentea sax-3 35
  • 47.73 (n)
  • 39.5 (a)
sax-3 37
  • 37 (a)
sax-3 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
OneToMany
Species with no ortholog for ROBO1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ROBO1 Gene

ENSEMBL:
Gene Tree for ROBO1 (if available)
TreeFam:
Gene Tree for ROBO1 (if available)

Paralogs for ROBO1 Gene

Paralogs for ROBO1 Gene

(7) SIMAP similar genes for ROBO1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ROBO1: view

Variants for ROBO1 Gene

Sequence variations from dbSNP and Humsavar for ROBO1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_019071 A breast cancer sample
rs36055689 A breast cancer sample 78,606,878(-) AGAGA(A/C)GTGTT reference, missense
rs9647397 - 78,714,435(+) TGCCC(A/G)CCATA reference, missense
rs35456279 - 78,635,874(-) TGGCA(A/G)CGGGG reference, missense
rs162425 -- 78,891,774(-) tcaat(A/G)gttca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ROBO1 Gene

Variant ID Type Subtype PubMed ID
nsv877017 CNV Gain 21882294
nsv834743 CNV Loss 17160897
esv2725545 CNV Deletion 23290073
nsv822148 CNV Loss 20364138
esv2725546 CNV Deletion 23290073
esv1007360 CNV Deletion 20482838
esv2657956 CNV Deletion 23128226
nsv236494 CNV Loss 16902084
nsv822149 CNV Loss 20364138
nsv877019 CNV Gain 21882294
esv2725547 CNV Deletion 23290073
esv2432577 CNV Deletion 19546169
esv1786723 CNV Deletion 17803354
esv2725548 CNV Deletion 23290073
esv2725549 CNV Deletion 23290073
esv2725550 CNV Deletion 23290073
nsv834744 CNV Loss 17160897
nsv877020 CNV Loss 21882294
nsv470672 CNV Loss 18288195
esv2725552 CNV Deletion 23290073
nsv520937 CNV Loss 19592680
nsv834745 CNV Gain 17160897
esv2725553 CNV Deletion 23290073
esv268041 CNV Insertion 20981092
esv2422412 CNV Deletion 17116639
esv2725554 CNV Deletion 23290073
nsv834747 CNV Gain 17160897
nsv877021 CNV Loss 21882294
esv2520472 CNV Insertion 19546169
nsv877022 CNV Loss 21882294
nsv460731 CNV Loss 19166990
esv2725555 CNV Deletion 23290073
nsv236995 CNV Insertion 16902084
esv1409005 CNV Insertion 17803354
esv2123767 CNV Deletion 18987734
esv1413527 CNV Insertion 17803354
nsv507105 CNV Insertion 20534489
dgv5174n71 CNV Loss 21882294
nsv877025 CNV Gain 21882294
nsv877026 CNV Loss 21882294
nsv877027 CNV Loss 21882294
nsv509834 CNV Loss 20534489
nsv822150 CNV Gain 20364138
esv2725556 CNV Deletion 23290073
esv2208607 CNV Deletion 18987734
esv2725557 CNV Deletion 23290073
esv2725558 CNV Deletion 23290073
esv2725559 CNV Deletion 23290073
esv991723 CNV Deletion 20482838
esv2725560 CNV Deletion 23290073
esv270699 CNV Insertion 20981092

Variation tolerance for ROBO1 Gene

Residual Variation Intolerance Score: 4.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.53; 64.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ROBO1 Gene

HapMap Linkage Disequilibrium report
ROBO1
Human Gene Mutation Database (HGMD)
ROBO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ROBO1 Gene

Disorders for ROBO1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ROBO1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
vesicoureteral reflux 2
  • vesicoureteric reflux 2
dyslexia
reading disorder
  • specific reading disorder
corneal neovascularization
adenofibroma
  • adenofibroma, no icd-o subtype
- elite association - COSMIC cancer census association via MalaCards
Search ROBO1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ROBO1

Genetic Association Database (GAD)
ROBO1
Human Genome Epidemiology (HuGE) Navigator
ROBO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ROBO1
genes like me logo Genes that share disorders with ROBO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ROBO1 Gene

Publications for ROBO1 Gene

  1. Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors. (PMID: 9458045) Kidd T. … Tear G. (Cell 1998) 2 3 4 67
  2. Potential anti-angiogenic role of Slit2 in corneal neovascularization. (PMID: 20298689) Han X. … Zhang M.C. (Exp. Eye Res. 2010) 3 23
  3. Slit2 involvement in glioma cell migration is mediated by Robo1 receptor. (PMID: 17968499) Mertsch S. … Senner V. (J. Neurooncol. 2008) 3 23
  4. Novel regulated expression of the SLIT/ROBO pathway in the ovary: possible role during luteolysis in women. (PMID: 18566128) Dickinson R.E. … Duncan W.C. (Endocrinology 2008) 3 23
  5. Cloning, expression, crystallization and preliminary X-ray analysis of the first two Ig domains from human roundabout 1 (Robo1). (PMID: 17671369) Morlot C. … McCarthy A.A. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2007) 3 23

Products for ROBO1 Gene

Sources for ROBO1 Gene

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