• Gene id: 6091

Gene Summary

• Gene Symbol: ROBO1   Gene   UCSC   Ensembl
• Aliases: DUTT1, SAX3
• Gene name: roundabout guidance receptor 1
• Alternate names: roundabout homolog 1, deleted in U twenty twenty, roundabout, axon guidance receptor, homolog 1,
• Gene location: 3p12.3 (79767997: 78597237)     Exons: 35     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 605433

Protein Summary

• Protein general information: Q9Y6N7  
  • Name: Roundabout homolog 1 (Deleted in U twenty twenty) (H Robo 1)
  • Length: 1651  
  • Mass: 180930
  • Tissue specificity: Widely expressed, with exception of kidney. {ECO
• Sequence:

  MKWKHVPFLVMISLLSLSPNHLFLAQLIPDPEDVERGNDHGTPIPTSDNDDNSLGYTGSRLRQEDFPPRIVEHPS
  DLIVSKGEPATLNCKAEGRPTPTIEWYKGGERVETDKDDPRSHRMLLPSGSLFFLRIVHGRKSRPDEGVYVCVAR
  NYLGEAVSHNASLEVAILRDDFRQNPSDVMVAVGEPAVMECQPPRGHPEPTISWKKDGSPLDDKDERITIRGGKL
  MITYTRKSDAGKYVCVGTNMVGERESEVAELTVLERPSFVKRPSNLAVTVDDSAEFKCEARGDPVPTVRWRKDDG
  ELPKSRYEIRDDHTLKIRKVTAGDMGSYTCVAENMVGKAEASATLTVQEPPHFVVKPRDQVVALGRTVTFQCEAT
  GNPQPAIFWRREGSQNLLFSYQPPQSSSRFSVSQTGDLTITNVQRSDVGYYICQTLNVAGSIITKAYLEVTDVIA
  DRPPPVIRQGPVNQTVAVDGTFVLSCVATGSPVPTILWRKDGVLVSTQDSRIKQLENGVLQIRYAKLGDTGRYTC
  IASTPSGEATWSAYIEVQEFGVPVQPPRPTDPNLIPSAPSKPEVTDVSRNTVTLSWQPNLNSGATPTSYIIEAFS
  HASGSSWQTVAENVKTETSAIKGLKPNAIYLFLVRAANAYGISDPSQISDPVKTQDVLPTSQGVDHKQVQRELGN
  AVLHLHNPTVLSSSSIEVHWTVDQQSQYIQGYKILYRPSGANHGESDWLVFEVRTPAKNSVVIPDLRKGVNYEIK
  ARPFFNEFQGADSEIKFAKTLEEAPSAPPQGVTVSKNDGNGTAILVSWQPPPEDTQNGMVQEYKVWCLGNETRYH
  INKTVDGSTFSVVIPFLVPGIRYSVEVAASTGAGSGVKSEPQFIQLDAHGNPVSPEDQVSLAQQISDVVKQPAFI
  AGIGAACWIILMVFSIWLYRHRKKRNGLTSTYAGIRKVPSFTFTPTVTYQRGGEAVSSGGRPGLLNISEPAAQPW
  LADTWPNTGNNHNDCSISCCTAGNGNSDSNLTTYSRPADCIANYNNQLDNKQTNLMLPESTVYGDVDLSNKINEM
  KTFNSPNLKDGRFVNPSGQPTPYATTQLIQSNLSNNMNNGSGDSGEKHWKPLGQQKQEVAPVQYNIVEQNKLNKD
  YRANDTVPPTIPYNQSYDQNTGGSYNSSDRGSSTSGSQGHKKGARTPKVPKQGGMNWADLLPPPPAHPPPHSNSE
  EYNISVDESYDQEMPCPVPPARMYLQQDELEEEEDERGPTPPVRGAASSPAAVSYSHQSTATLTPSPQEELQPML
  QDCPEETGHMQHQPDRRRQPVSPPPPPRPISPPHTYGYISGPLVSDMDTDAPEEEEDEADMEVAKMQTRRLLLRG
  LEQTPASSVGDLESSVTGSMINGWGSASEEDNISSGRSSVSSSDGSFFTDADFAQAVAAAAEYAGLKVARRQMQD
  AAGRRHFHASQCPRPTSPVSTDSNMSAAVMQKTRPAKKLKHQPGHLRRETYTDDLPPPPVPPPAIKSPTAQSKTQ
  LEVRPVVVPKLPSMDARTDRSSDRKGSSYKGREVLDGRQVVDMRTNPGDPREAQEQQNDGKGRGNKAAKRDLPPA
  KTHLIQEDILPYCRPTFPTSNNPRDPSSSSSMSSRGSGSRQREQANVGRRNIAEMQVLGGYERGEDNNEELEETE
  S

• Structural information:
  • Protein Domains: (68..16-)
    1 (/note="Ig-like-C2-type)
    (170..25-)
    2 (/note="Ig-like-C2-type)
    (262..34-)
    3 (/note="Ig-like-C2-type)
    (351..44-)
    4 (/note="Ig-like-C2-type)
    (455..54-)
    5 (/note="Ig-like-C2-type)
    (563..65-)
    (/note="Fibron-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR013106  IPR032986  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 2EO9 2V9Q 2V9R 2V9T 3WIH 4HLJ 5O5G 5O5I 5OPE 6A77 6A78 6A79
  • PDBsum: 2EO9 2V9Q 2V9R 2V9T 3WIH 4HLJ 5O5G 5O5I 5OPE 6A77 6A78 6A79
  • DIP: 33034
  • STRING: ENSP00000420321
• Other Databases: GeneCards:  ROBO1  Malacards:  ROBO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0035025	positive regulation of Rho protein signal transduction	IMP	biological process
GO:0035385	Roundabout signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016199	axon midline choice point recognition	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0008046	axon guidance receptor activity	IEA	molecular function
GO:0035385	Roundabout signaling pathway	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0006935	chemotaxis	IEA	biological process
GO:0008046	axon guidance receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007411	axon guidance	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003148	outflow tract septum morphogenesis	ISS	biological process
GO:0035481	positive regulation of Notch signaling pathway involved in heart induction	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0003180	aortic valve morphogenesis	ISS	biological process
GO:0035904	aorta development	ISS	biological process
GO:0003272	endocardial cushion formation	ISS	biological process
GO:0003184	pulmonary valve morphogenesis	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0002042	cell migration involved in sprouting angiogenesis	IMP	biological process
GO:0033600	negative regulation of mammary gland epithelial cell proliferation	IMP	biological process
GO:0035385	Roundabout signaling pathway	IMP	biological process
GO:0070100	negative regulation of chemokine-mediated signaling pathway	IMP	biological process
GO:0043406	positive regulation of MAP kinase activity	IMP	biological process
GO:1900748	positive regulation of vascular endothelial growth factor signaling pathway	IMP	biological process
GO:0030424	axon	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0050925	negative regulation of negative chemotaxis	IDA	biological process
GO:0050772	positive regulation of axonogenesis	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0021836	chemorepulsion involved in postnatal olfactory bulb interneuron migration	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0030275	LRR domain binding	IPI	molecular function
GO:0016199	axon midline choice point recognition	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq