ENSG00000169855


Homo sapiens

Features
Gene ID: ENSG00000169855
  
Biological name :ROBO1
  
Synonyms : Q9Y6N7 / ROBO1 / roundabout guidance receptor 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p12.3
Gene start: 78597240
Gene end: 79767815
  
Corresponding Affymetrix probe sets: 213194_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000420321
Ensembl peptide - ENSP00000419915
Ensembl peptide - ENSP00000420637
Ensembl peptide - ENSP00000482448
Ensembl peptide - ENSP00000477976
Ensembl peptide - ENSP00000406043
Ensembl peptide - ENSP00000417992
Ensembl peptide - ENSP00000418553
Ensembl peptide - ENSP00000418946
NCBI entrez gene - 6091     See in Manteia.
OMIM - 602430
RefSeq - XM_017006985
RefSeq - NM_133631
RefSeq - XM_006713277
RefSeq - XM_011533976
RefSeq - XM_011533977
RefSeq - XM_011533978
RefSeq - XM_011533979
RefSeq - XM_011533980
RefSeq - XM_017006982
RefSeq - XM_017006983
RefSeq - XM_017006984
RefSeq - NM_001145845
RefSeq - NM_002941
RefSeq Peptide - NP_002932
RefSeq Peptide - NP_598334
RefSeq Peptide - NP_001139317
swissprot - H7C4Y7
swissprot - H7C545
swissprot - A0A0A0MSX4
swissprot - Q9Y6N7
swissprot - A0A087WTM1
swissprot - A0A087WZ85
swissprot - F8WEV8
Ensembl - ENSG00000169855
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 robo1ENSDARG00000026784Danio rerio
 ROBO1ENSGALG00000015511Gallus gallus
 Robo1ENSMUSG00000022883Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ROBO2 / Q9HCK4 / roundabout guidance receptor 2ENSG0000018500846
ROBO3 / Q96MS0 / roundabout guidance receptor 3ENSG0000015413436
ROBO4 / Q8WZ75 / roundabout guidance receptor 4ENSG0000015413319
CDON / Q4KMG0 / cell adhesion associated, oncogene regulatedENSG0000006430915
BOC / Q9BWV1 / BOC cell adhesion associated, oncogene regulatedENSG0000014485713
NCAM2 / O15394 / neural cell adhesion molecule 2ENSG0000015465411
NCAM1 / P13591 / neural cell adhesion molecule 1ENSG0000014929411


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR032986  Roundabout homologue 1
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002042 cell migration involved in sprouting angiogenesis IMP
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0016199 axon midline choice point recognition ISS
 biological_processGO:0021836 chemorepulsion involved in postnatal olfactory bulb interneuron migration IDA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030336 negative regulation of cell migration IMP
 biological_processGO:0033600 negative regulation of mammary gland epithelial cell proliferation IMP
 biological_processGO:0035025 positive regulation of Rho protein signal transduction IMP
 biological_processGO:0035385 Roundabout signaling pathway IEA
 biological_processGO:0043406 positive regulation of MAP kinase activity IMP
 biological_processGO:0050772 positive regulation of axonogenesis IDA
 biological_processGO:0050925 negative regulation of negative chemotaxis IDA
 biological_processGO:0070100 negative regulation of chemokine-mediated signaling pathway IMP
 biological_processGO:1900748 positive regulation of vascular endothelial growth factor signaling pathway IMP
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008046 axon guidance receptor activity TAS
 molecular_functionGO:0030275 LRR domain binding IPI
 molecular_functionGO:0042802 identical protein binding IDA


Pathways (from Reactome)
Pathway description
Netrin-1 signaling
Signaling by ROBO receptors
Activation of RAC1
Regulation of commissural axon pathfinding by SLIT and ROBO
Inactivation of CDC42 and RAC1
Role of ABL in ROBO-SLIT signaling
SLIT2:ROBO1 increases RHOA activity
Regulation of cortical dendrite branching
Regulation of expression of SLITs and ROBOs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000786 Primary amenorrhea 
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 HP:0000821 Hypothyroidism 
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 HP:0000823 Delayed puberty 
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 HP:0000835 Adrenal hypoplasia 
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 HP:0000873 Diabetes insipidus "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001522 Death in infancy 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0008736 Hypoplasia of penis 
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 HP:0011755 Ectopic posterior pituitary "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the `neurohypophysis` (FMA:74628). The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis." [DDD:spark, HPO:probinson]
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 HP:0100842 Septo-optic dysplasia "Underdevelopment of the optic nerve and absence of the septum pellucidum." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000071051 NCK2 / O43639 / NCK adaptor protein 2  / complex / reaction
 ENSG00000121966 CXCR4 / P61073 / C-X-C motif chemokine receptor 4  / complex / reaction
 ENSG00000112186 CAP2 / P40123 / cyclase associated actin cytoskeleton regulatory protein 2  / complex / reaction
 ENSG00000187122 SLIT1 / O75093 / slit guidance ligand 1  / complex / reaction
 ENSG00000074054 CLASP1 / Q7Z460 / cytoplasmic linker associated protein 1  / complex / reaction
 ENSG00000099250 NRP1 / O14786 / neuropilin 1  / reaction / complex
 ENSG00000163539 CLASP2 / O75122 / cytoplasmic linker associated protein 2  / complex / reaction
 ENSG00000187323 DCC / P43146 / DCC netrin 1 receptor  / reaction / complex
 ENSG00000145147 SLIT2 / O94813 / slit guidance ligand 2  / complex / reaction
 ENSG00000107562 CXCL12 / P48061 / C-X-C motif chemokine ligand 12  / reaction / complex
 ENSG00000184347 SLIT3 / O75094 / slit guidance ligand 3  / complex / reaction
 ENSG00000131236 CAP1 / Q01518 / cyclase associated actin cytoskeleton regulatory protein 1  / reaction / complex
 ENSG00000077254 USP33 / Q8TEY7 / ubiquitin specific peptidase 33  / reaction
 ENSG00000266028 O75044 / SRGAP2 / SLIT-ROBO Rho GTPase activating protein 2  / reaction / complex
 ENSG00000147799 Q9C0H5 / ARHGAP39 / Rho GTPase activating protein 39  / complex / reaction
 ENSG00000143322 ABL2 / P42684 / ABL proto-oncogene 2, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000196935 Q7Z6B7 / SRGAP1 / SLIT-ROBO Rho GTPase activating protein 1  / complex / reaction
 ENSG00000196220 O43295 / SRGAP3 / SLIT-ROBO Rho GTPase activating protein 3  / reaction / complex
 ENSG00000099331 MYO9B / Q13459 / myosin IXB  / complex / reaction
 ENSG00000125753 VASP / P50552 / vasodilator stimulated phosphoprotein  / complex / reaction
 ENSG00000100485 SOS2 / Q07890 / SOS Ras/Rho guanine nucleotide exchange factor 2  / reaction / complex
 ENSG00000125848 FLRT3 / Q9NZU0 / fibronectin leucine rich transmembrane protein 3  / complex / reaction
 ENSG00000154380 ENAH / Q8N8S7 / ENAH, actin regulator  / reaction / complex
 ENSG00000196405 EVL / Q9UI08 / Enah/Vasp-like  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000158092 NCK1 / P16333 / NCK adaptor protein 1  / complex / reaction
 ENSG00000097007 ABL1 / P00519 / ABL proto-oncogene 1, non-receptor tyrosine kinase  / reaction / complex






 

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