Human Gene ROBO3 (ENST00000397801.6_6) from GENCODE V47lift37
  Description: roundabout guidance receptor 3, transcript variant 1 (from RefSeq NM_022370.4)
Gencode Transcript: ENST00000397801.6_6
Gencode Gene: ENSG00000154134.15_9
Transcript (Including UTRs)
   Position: hg19 chr11:124,735,328-124,751,367 Size: 16,040 Total Exon Count: 28 Strand: +
Coding Region
   Position: hg19 chr11:124,735,474-124,751,146 Size: 15,673 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:124,735,328-124,751,367)mRNA (may differ from genome)Protein (1386 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ROBO3_HUMAN
DESCRIPTION: RecName: Full=Roundabout homolog 3; AltName: Full=Roundabout-like protein 3; Flags: Precursor;
FUNCTION: Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube. In spinal chord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (By similarity). Required for hindbrain axon midline crossing.
SUBUNIT: Probably interacts with SLIT2 (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
DISEASE: Defects in ROBO3 are a cause of familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]. Patients show a medulla where motor and sensory projections appear uncrossed.
SIMILARITY: Belongs to the immunoglobulin superfamily. ROBO family.
SIMILARITY: Contains 3 fibronectin type-III domains.
SIMILARITY: Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ROBO3";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ROBO3
Diseases sorted by gene-association score: gaze palsy, familial horizontal, with progressive scoliosis, 1* (1550), horizontal gaze palsy with progressive scoliosis* (567), scoliosis (39), esotropia (17), bone structure disease (9), tukel syndrome (7), ocular motility disease (6), gilles de la tourette syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.47 RPKM in Ovary
Total median expression: 180.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -77.80146-0.533 Picture PostScript Text
3' UTR -66.60221-0.301 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003598 - Ig_sub2

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF07686 - Immunoglobulin V-set domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
49363 - Purple acid phosphatase, N-terminal domain
49265 - Fibronectin type III
50118 - Cell growth inhibitor/plasmid maintenance toxic component

ModBase Predicted Comparative 3D Structure on Q96MS0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006935 chemotaxis
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0016199 axon midline choice point recognition
GO:0030154 cell differentiation
GO:0035385 Roundabout signaling pathway

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030424 axon


-  Descriptions from all associated GenBank mRNAs
  AY509035 - Homo sapiens roundabout-like protein 3 (ROBO3) mRNA, complete cds.
AK056544 - Homo sapiens cDNA FLJ31982 fis, clone NT2RP7008550, highly similar to Mus musculus rig-1 protein mRNA.
AK291045 - Homo sapiens cDNA FLJ76806 complete cds, highly similar to Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.
BC148593 - Synthetic construct Homo sapiens clone IMAGE:100015636, MGC:183138 roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3) mRNA, encodes complete protein.
BC113744 - Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila), mRNA (cDNA clone IMAGE:5762826), with apparent retained intron.
BC086878 - Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila), mRNA (cDNA clone IMAGE:6500722), with apparent retained intron.
AK298792 - Homo sapiens cDNA FLJ55947 complete cds, highly similar to Roundabout homolog 3 precursor.
AK024697 - Homo sapiens cDNA: FLJ21044 fis, clone CAE11659.
AK225076 - Homo sapiens mRNA for roundabout, axon guidance receptor, homolog 3 variant, clone: CAE11659.
AK295475 - Homo sapiens cDNA FLJ59894 complete cds, moderately similar to Roundabout homolog 3 precursor.
JD290636 - Sequence 271660 from Patent EP1572962.
BC008623 - Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila), mRNA (cDNA clone IMAGE:4177689), complete cds.
JD191214 - Sequence 172238 from Patent EP1572962.
JD390673 - Sequence 371697 from Patent EP1572962.
JD476113 - Sequence 457137 from Patent EP1572962.
JD540558 - Sequence 521582 from Patent EP1572962.
JD464673 - Sequence 445697 from Patent EP1572962.
JD037099 - Sequence 18123 from Patent EP1572962.
KJ903067 - Synthetic construct Homo sapiens clone ccsbBroadEn_12461 ROBO3 gene, encodes complete protein.
JD093676 - Sequence 74700 from Patent EP1572962.
JD440600 - Sequence 421624 from Patent EP1572962.
JD474316 - Sequence 455340 from Patent EP1572962.
JD338120 - Sequence 319144 from Patent EP1572962.
JD563989 - Sequence 545013 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96MS0 (Reactome details) participates in the following event(s):

R-HSA-9010647 ROBO3.1 binds AKAP5
R-HSA-9011224 ROBO3.1 binds DCC
R-NUL-9011287 Zswim8 binds ROBO3.1
R-HSA-9010646 AKAP5 recruits PKC to ROBO3.1
R-HSA-9010190 ROBO3 binds NELL2
R-HSA-9010681 PKC phosphorylates ROBO3.1
R-HSA-428542 Regulation of commissural axon pathfinding by SLIT and ROBO
R-HSA-9010642 ROBO receptors bind AKAP5
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-376176 Signaling by ROBO receptors
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000397801.1, ENST00000397801.2, ENST00000397801.3, ENST00000397801.4, ENST00000397801.5, NM_022370, Q96MS0, ROBO3 , ROBO3_HUMAN, uc318zhl.1, uc318zhl.2
UCSC ID: ENST00000397801.6_6
RefSeq Accession: NM_022370.4
Protein: Q96MS0 (aka ROBO3_HUMAN or ROB3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.