Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6091
Gene name Gene Name - the full gene name approved by the HGNC.
Roundabout guidance receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ROBO1
Synonyms (NCBI Gene) Gene synonyms aliases
CPHD8, DUTT1, NORS, NYS8, SAX3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CPHD8, NORS, NYS8
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p12.3
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000481 hsa-miR-217 qRT-PCR, Luciferase reporter assay, Western blot 20300657
MIRT006048 hsa-miR-218-5p Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR 21385904
MIRT006048 hsa-miR-218-5p Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR 21385904
MIRT006048 hsa-miR-218-5p Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR 21385904
MIRT050348 hsa-miR-25-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002042 Process Cell migration involved in sprouting angiogenesis IMP 19351956
GO:0003148 Process Outflow tract septum morphogenesis ISS
GO:0003180 Process Aortic valve morphogenesis ISS
GO:0003184 Process Pulmonary valve morphogenesis ISS
GO:0003272 Process Endocardial cushion formation ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602430 10249 ENSG00000169855
Protein
UniProt ID Q9Y6N7
Protein name Roundabout homolog 1 (Deleted in U twenty twenty) (H-Robo-1)
Protein 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 de
PDB 2EO9 , 2V9Q , 2V9R , 2V9T , 3WIH , 4HLJ , 5O5G , 5O5I , 5OPE , 6A77 , 6A78 , 6A79
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 67 151 Domain
PF07679 I-set 170 258 Immunoglobulin I-set domain Domain
PF07679 I-set 262 347 Immunoglobulin I-set domain Domain
PF13927 Ig_3 350 432 Domain
PF13927 Ig_3 454 529 Domain
PF00041 fn3 562 646 Fibronectin type III domain Domain
PF00041 fn3 678 758 Fibronectin type III domain Domain
PF00041 fn3 777 864 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with exception of kidney. {ECO:0000269|PubMed:9608531}.
Sequence
MKWKHVPFLVMISLLSLSPNHLFLAQLIPDPEDVERGNDHGTPIPTSDNDDNSLGYTGSR
LRQEDFPPRIVEHPSDLIVSKGEPATLNCKAEGRPTPTIEWYKGGERVETDKDDPRSHRM
LLPSGSLFFLRIVHGRKSRPDEGVYVCVARN
YLGEAVSHNASLEVAILRDDFRQNPSDVM
VAVGEPAVMECQPPRGHPEPTISWKKDGSPLDDKDERITIRGGKLMITYTRKSDAGKYVC
VGTNMVGERESEVAELTV
LERPSFVKRPSNLAVTVDDSAEFKCEARGDPVPTVRWRKDDG
ELPKSRYEIRDDHTLKIRKVTAGDMGSYTCVAENMVGKAEASATLTV
QEPPHFVVKPRDQ
VVALGRTVTFQCEATGNPQPAIFWRREGSQNLLFSYQPPQSSSRFSVSQTGDLTITNVQR
SDVGYYICQTLN
VAGSIITKAYLEVTDVIADRPPPVIRQGPVNQTVAVDGTFVLSCVATG
SPVPTILWRKDGVLVSTQDSRIKQLENGVLQIRYAKLGDTGRYTCIAST
PSGEATWSAYI
EVQEFGVPVQPPRPTDPNLIPSAPSKPEVTDVSRNTVTLSWQPNLNSGATPTSYIIEAFS
HASGSSWQTVAENVKTETSAIKGLKPNAIYLFLVRAANAYGISDPS
QISDPVKTQDVLPT
SQGVDHKQVQRELGNAVLHLHNPTVLSSSSIEVHWTVDQQSQYIQGYKILYRPSGANHGE
SDWLVFEVRTPAKNSVVIPDLRKGVNYEIKARPFFNEF
QGADSEIKFAKTLEEAPSAPPQ
GVTVSKNDGNGTAILVSWQPPPEDTQNGMVQEYKVWCLGNETRYHINKTVDGSTFSVVIP
FLVPGIRYSVEVAASTGAGSGVKS
EPQFIQLDAHGNPVSPEDQVSLAQQISDVVKQPAFI
AGIGAACWIILMVFSIWLYRHRKKRNGLTSTYAGIRKVPSFTFTPTVTYQRGGEAVSSGG
RPGLLNISEPAAQPWLADTWPNTGNNHNDCSISCCTAGNGNSDSNLTTYSRPADCIANYN
NQLDNKQTNLMLPESTVYGDVDLSNKINEMKTFNSPNLKDGRFVNPSGQPTPYATTQLIQ
SNLSNNMNNGSGDSGEKHWKPLGQQKQEVAPVQYNIVEQNKLNKDYRANDTVPPTIPYNQ
SYDQNTGGSYNSSDRGSSTSGSQGHKKGARTPKVPKQGGMNWADLLPPPPAHPPPHSNSE
EYNISVDESYDQEMPCPVPPARMYLQQDELEEEEDERGPTPPVRGAASSPAAVSYSHQST
ATLTPSPQEELQPMLQDCPEETGHMQHQPDRRRQPVSPPPPPRPISPPHTYGYISGPLVS
DMDTDAPEEEEDEADMEVAKMQTRRLLLRGLEQTPASSVGDLESSVTGSMINGWGSASEE
DNISSGRSSVSSSDGSFFTDADFAQAVAAAAEYAGLKVARRQMQDAAGRRHFHASQCPRP
TSPVSTDSNMSAAVMQKTRPAKKLKHQPGHLRRETYTDDLPPPPVPPPAIKSPTAQSKTQ
LEVRPVVVPKLPSMDARTDRSSDRKGSSYKGREVLDGRQVVDMRTNPGDPREAQEQQNDG
KGRGNKAAKRDLPPAKTHLIQEDILPYCRPTFPTSNNPRDPSSSSSMSSRGSGSRQREQA
NVGRRNIAEMQVLGGYERGEDNNEELEETES
Sequence length 1651
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Axon guidance   Signaling by ROBO receptors
Regulation of commissural axon pathfinding by SLIT and ROBO
Role of ABL in ROBO-SLIT signaling
SLIT2:ROBO1 increases RHOA activity
Regulation of expression of SLITs and ROBOs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular rs121913530, rs886039394, rs121913474 17671114
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
18270976
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Carcinoma Carcinoma, Cribriform, Carcinoma, Granular Cell rs121912654, rs555607708, rs786202962, rs1564055259 17671114
Unknown
Disease term Disease name Evidence References Source
Pituitary stalk interruption syndrome Pituitary stalk interruption syndrome 28402530 ClinVar
Pituitary Hormone Deficiency pituitary hormone deficiency, combined or isolated, 8 GenCC
Pituitary Stalk Interruption Syndrome pituitary stalk interruption syndrome GenCC
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenomyosis Associate 20970134
Arthritis Rheumatoid Associate 30157923
Bone Neoplasms Associate 23199169
Breast Neoplasms Associate 11438460, 26400100, 26427657, 29698419
Cap Myopathy Associate 24752651
Carcinogenesis Associate 22719878
Carcinoma Ductal Associate 26400100
Carcinoma Hepatocellular Associate 19114000, 25492858, 28924964, 35236289, 37828032
Carcinoma Non Small Cell Lung Associate 24633887
Cholangiocarcinoma Associate 27009864