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ROBO1 roundabout guidance receptor 1 [ Homo sapiens (human) ]

Gene ID: 6091, updated on 8-May-2016
Official Symbol
ROBO1provided by HGNC
Official Full Name
roundabout guidance receptor 1provided by HGNC
Primary source
HGNC:HGNC:10249
See related
Ensembl:ENSG00000169855 HPRD:03890; MIM:602430; Vega:OTTHUMG00000158843
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SAX3; DUTT1
Summary
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]
Orthologs
Location:
3p12
Exon count:
35
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (78597238..79767998, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (78646388..79817059, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377173 Neighboring gene mitochondrial ribosomal protein S17 pseudogene 3 Neighboring gene ribosomal protein S12 pseudogene 6 Neighboring gene uncharacterized LOC101927374 Neighboring gene microRNA 3923 Neighboring gene high mobility group box 1 pseudogene 38 Neighboring gene oxysterol binding protein like 9 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.
NHGRI GWA Catalog
Genome-wide association study of liver enzymes in korean children.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The N-terminal leucine-rich repeat fragment of Slit2 inhibits HIV-1 gp120-induced ROBO1-actin association PubMed
env Inhibition of M-tropic HIV-1 gp120-induced transendothelial migration by SLIT2N involves SLIT2N-mediated enhancement of co-localization of Robo1 with WASp and LSP1 in immature monocyte-derived dendritic cells PubMed

Go to the HIV-1, Human Interaction Database

  • Activation of Rac, organism-specific biosystem (from REACTOME)
    Activation of Rac, organism-specific biosystemA low level of Rac activity is essential to maintain axon outgrowth and Robo activation recruits Sos, a dual specificity GEF to the plasma membrane via Dock to activate Rac during midline repulsion.
  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Inactivation of Cdc42 and Rac, organism-specific biosystem (from REACTOME)
    Inactivation of Cdc42 and Rac, organism-specific biosystemRho family GTPases including Rac, Rho, and Cdc42 are ideal candidates to regulate aspects of cytoskeletal dynamics downstream of axon guidance receptors. Biochemical and genetic studies have revealed...
  • Netrin-1 signaling, organism-specific biosystem (from REACTOME)
    Netrin-1 signaling, organism-specific biosystemNetrins are secreted proteins that play a crucial role in neuronal migration and in axon guidance during the development of the nervous system. To date, several Netrins have been described in mouse a...
  • Regulation of Commissural axon pathfinding by Slit and Robo, organism-specific biosystem (from REACTOME)
    Regulation of Commissural axon pathfinding by Slit and Robo, organism-specific biosystemCommissural axons project to the floor plate, attracted by the interaction of their DCC receptors with netrin1 produced by floor plate cells. The axons are insensitive to the repulsive action of slit...
  • Role of Abl in Robo-Slit signaling, organism-specific biosystem (from REACTOME)
    Role of Abl in Robo-Slit signaling, organism-specific biosystemAbl plays a dual role in the Robo pathway. As a key enzymatic component in the signaling pathway, Abl support repellent signaling (by recruiting the necessary actin binding proteins) and also feed ba...
  • Signaling by Robo receptor, organism-specific biosystem (from REACTOME)
    Signaling by Robo receptor, organism-specific biosystemThe Roundabout (Robo) family encodes transmembrane receptors that regulate axonal guidance and cell migration. The major function of the Robo receptors is to mediate repulsion of the navigating growt...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ21882, MGC131599, MGC133277

Gene Ontology Provided by GOA

Function Evidence Code Pubs
LRR domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
axon guidance receptor activity TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Roundabout signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
axon guidance TAS
Traceable Author Statement
more info
 
axon midline choice point recognition ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell migration involved in sprouting angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
chemorepulsion involved in postnatal olfactory bulb interneuron migration IDA
Inferred from Direct Assay
more info
PubMed 
heart development IEA
Inferred from Electronic Annotation
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of chemokine-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mammary gland epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of negative chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of axonogenesis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
roundabout homolog 1
Names
deleted in U twenty twenty
roundabout, axon guidance receptor, homolog 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011729.1 RefSeqGene

    Range
    5001..1175672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145845.1NP_001139317.1  roundabout homolog 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, uses a distinct translation start site, includes an alternate in-frame exon in the 5' coding region, lacks an alternate in-frame exon in the central coding region, and uses an alternate splice site in the central coding region, compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus and differs at three internal regions, compared to isoform a. The 5' UTR of this variant contains a 55 aa uORF with a strong Kozak signal that may inhibit translation of this protein.
    Source sequence(s)
    AC016946, AC055731, AC106720, AC108719, AK025535, BC029676, BC115022, BP228659
    Consensus CDS
    CCDS54610.1
    UniProtKB/Swiss-Prot
    Q9Y6N7
    Related
    ENSP00000417992, OTTHUMP00000213708, ENST00000467549, OTTHUMT00000352613
    Conserved Domains (7) summary
    cd05724
    Location:135219
    Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05725
    Location:240308
    Ig3_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05726
    Location:329418
    Ig4_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd07693
    Location:28127
    Ig1_Robo; First immunoglobulin (Ig)-like domain in Robo (roundabout) receptors and similar proteins
    cd00063
    Location:525611
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:223308
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:423497
    Ig; Immunoglobulin domain
  2. NM_002941.3NP_002932.1  roundabout homolog 1 isoform a precursor

    See identical proteins and their annotated locations for NP_002932.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF040990, AK025535, BC029676, DR003097
    Consensus CDS
    CCDS54611.1
    UniProtKB/Swiss-Prot
    Q9Y6N7
    Related
    ENSP00000420321, OTTHUMP00000213706, ENST00000464233, OTTHUMT00000352610
    Conserved Domains (7) summary
    cd05724
    Location:174258
    Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05725
    Location:279347
    Ig3_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05726
    Location:365454
    Ig4_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd07693
    Location:67166
    Ig1_Robo; First immunoglobulin (Ig)-like domain in Robo (roundabout) receptors and similar proteins
    cd00063
    Location:561647
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:262347
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:459533
    Ig; Immunoglobulin domain
  3. NM_133631.3NP_598334.2  roundabout homolog 1 isoform b

    See identical proteins and their annotated locations for NP_598334.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, uses a distinct translation start site, includes an alternate in-frame exon in the 5' coding region, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus, compared to isoform a. The 5' UTR of this variant contains a 55 aa uORF with a strong Kozak signal that may inhibit translation of this protein.
    Source sequence(s)
    AC016946, BC029676, BC115020, BC157861, BP228659
    Consensus CDS
    CCDS46872.2
    UniProtKB/Swiss-Prot
    Q9Y6N7
    UniProtKB/TrEMBL
    Q1RMC8
    Related
    ENSP00000420637, OTTHUMP00000213707, ENST00000495273, OTTHUMT00000352611
    Conserved Domains (7) summary
    cd05724
    Location:135219
    Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05725
    Location:240308
    Ig3_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05726
    Location:329418
    Ig4_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd07693
    Location:28127
    Ig1_Robo; First immunoglobulin (Ig)-like domain in Robo (roundabout) receptors and similar proteins
    cd00063
    Location:525611
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:223308
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:423497
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    78597238..79767998 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533980.1XP_011532282.1  

    Conserved Domains (7) summary
    cd05724
    Location:174258
    Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05725
    Location:279347
    Ig3_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05726
    Location:368457
    Ig4_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd07693
    Location:67166
    Ig1_Robo; First immunoglobulin (Ig)-like domain in Robo (roundabout) receptors and similar proteins
    cd00063
    Location:564650
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:262347
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:462536
    Ig; Immunoglobulin domain
  2. XM_011533978.1XP_011532280.1  

    Conserved Domains (7) summary
    cd05724
    Location:174258
    Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05725
    Location:279347
    Ig3_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05726
    Location:368457
    Ig4_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd07693
    Location:67166
    Ig1_Robo; First immunoglobulin (Ig)-like domain in Robo (roundabout) receptors and similar proteins
    cd00063
    Location:564650
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:262347
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:462536
    Ig; Immunoglobulin domain
  3. XM_011533979.1XP_011532281.1  

    Conserved Domains (7) summary
    cd05724
    Location:174258
    Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05725
    Location:279347
    Ig3_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05726
    Location:368457
    Ig4_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd07693
    Location:67166
    Ig1_Robo; First immunoglobulin (Ig)-like domain in Robo (roundabout) receptors and similar proteins
    cd00063
    Location:564650
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:262347
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:462536
    Ig; Immunoglobulin domain
  4. XM_011533976.1XP_011532278.1  

    See identical proteins and their annotated locations for XP_011532278.1

    Conserved Domains (7) summary
    cd05724
    Location:174258
    Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05725
    Location:279347
    Ig3_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05726
    Location:368457
    Ig4_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd07693
    Location:67166
    Ig1_Robo; First immunoglobulin (Ig)-like domain in Robo (roundabout) receptors and similar proteins
    cd00063
    Location:564650
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:262347
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:462536
    Ig; Immunoglobulin domain
  5. XM_011533977.1XP_011532279.1  

    See identical proteins and their annotated locations for XP_011532279.1

    Conserved Domains (7) summary
    cd05724
    Location:174258
    Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05725
    Location:279347
    Ig3_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05726
    Location:368457
    Ig4_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd07693
    Location:67166
    Ig1_Robo; First immunoglobulin (Ig)-like domain in Robo (roundabout) receptors and similar proteins
    cd00063
    Location:564650
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:262347
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:462536
    Ig; Immunoglobulin domain
  6. XM_006713277.2XP_006713340.1  

    UniProtKB/Swiss-Prot
    Q9Y6N7
    Related
    ENSP00000406043, ENST00000436010
    Conserved Domains (7) summary
    cd05724
    Location:135219
    Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05725
    Location:240308
    Ig3_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05726
    Location:329418
    Ig4_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd07693
    Location:28127
    Ig1_Robo; First immunoglobulin (Ig)-like domain in Robo (roundabout) receptors and similar proteins
    cd00063
    Location:525611
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:223308
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:423497
    Ig; Immunoglobulin domain
  7. XM_006713276.2XP_006713339.1  

    Conserved Domains (7) summary
    cd05724
    Location:136220
    Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05725
    Location:241309
    Ig3_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd05726
    Location:330419
    Ig4_Robo; Third immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
    cd07693
    Location:29128
    Ig1_Robo; First immunoglobulin (Ig)-like domain in Robo (roundabout) receptors and similar proteins
    cd00063
    Location:526612
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:224309
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:424498
    Ig; Immunoglobulin domain

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    78599244..79770223 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)