Gene Gene information from NCBI Gene database.
Entrez ID 6091
Gene name Roundabout guidance receptor 1
Gene symbol ROBO1
Synonyms (NCBI Gene)
CPHD8DUTT1NORSNYS8SAX3
Chromosome 3
Chromosome location 3p12.3
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
miRNA miRNA information provided by mirtarbase database.
522
miRTarBase ID miRNA Experiments Reference
MIRT000481 hsa-miR-217 qRT-PCRLuciferase reporter assayWestern blot 20300657
MIRT006048 hsa-miR-218-5p ImmunoblotLuciferase reporter assayMicroarrayqRT-PCR 21385904
MIRT006048 hsa-miR-218-5p ImmunoblotLuciferase reporter assayMicroarrayqRT-PCR 21385904
MIRT006048 hsa-miR-218-5p ImmunoblotLuciferase reporter assayMicroarrayqRT-PCR 21385904
MIRT050348 hsa-miR-25-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0002042 Process Cell migration involved in sprouting angiogenesis IMP 19351956
GO:0003129 Process Heart induction ISS
GO:0003148 Process Outflow tract septum morphogenesis ISS
GO:0003180 Process Aortic valve morphogenesis ISS
GO:0003184 Process Pulmonary valve morphogenesis ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602430 10249 ENSG00000169855
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
49
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bilateral renal agenesis Likely pathogenic rs1703089925, rs2082671645 RCV001290385
RCV001290396
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma Likely pathogenic rs2472632341 RCV005928618
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital anomaly of kidney and urinary tract Pathogenic; Likely pathogenic rs777460645, rs2108073043, rs781328659, rs1706676495, rs2107397010, rs2107620759, rs2081039925, rs2081036277, rs1706269517 RCV001391191
RCV001391192
RCV001391193
RCV001391194
RCV001779959
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heart, malformation of Likely pathogenic rs1706274257 RCV001290242
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANUS, IMPERFORATE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL HEART SEPTAL DEFECT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma CTD_human_DG 17671114
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28936884
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 17671114
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 17671114
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 17671114
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 21998696
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30504844
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 30157923 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 20816195
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 18270976
★★☆☆☆
Found in Text Mining + Unknown/Other Associations