ROBO1 - roundabout guidance receptor 1 Gene

Homo sapiens

Also known as SAX3; DUTT1

Gene ID: 6091 | Gene type: protein coding

About ROBO1

Cytogenetic location: 3p12.3 Genomic coordinates (GRCh38): 3:78,597,239-79,767,998 (from NCBI)

This gene has 12 transcripts (splice variants), 283 orthologues, 36 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 11.9), skin (RPKM 9.4) and 23 other tissues.

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 product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

ROBO1 Products(3)

mRNA	Protein	Name
NM_001145845.2	NP_001139317.1	roundabout homolog 1 isoform d
NM_002941.4	NP_002932.1	roundabout homolog 1 isoform a precursor
NM_133631.4	NP_598334.2	roundabout homolog 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables LRR domain binding	IPI IPI: Inferred from physical interaction	17848514	GOA
enables axon guidance receptor activity	IDA IDA: Inferred from direct assay	17848514	GOA
enables identical protein binding	IDA IDA: Inferred from direct assay	12504588	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12504588	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Roundabout signaling pathway	IMP IMP: Inferred from mutant phenotype	18829537	GOA
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	18566128	GOA
involved in cell migration involved in sprouting angiogenesis	IMP IMP: Inferred from mutant phenotype	19351956	GOA
involved in chemorepulsion involved in postnatal olfactory bulb interneuron migration	IDA IDA: Inferred from direct assay	15207848	GOA
involved in homophilic cell adhesion via plasma membrane adhesion molecules	IDA IDA: Inferred from direct assay	12504588	GOA
involved in negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	26529257	GOA
involved in negative regulation of chemokine-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	18829537	GOA
involved in negative regulation of mammary gland epithelial cell proliferation	IMP IMP: Inferred from mutant phenotype	18829537	GOA
involved in negative regulation of negative chemotaxis	IDA IDA: Inferred from direct assay	11748139	GOA
involved in positive regulation of MAP kinase activity	IMP IMP: Inferred from mutant phenotype	21385766	GOA
involved in positive regulation of Rho protein signal transduction	IMP IMP: Inferred from mutant phenotype	26529257	GOA
involved in positive regulation of axonogenesis	IDA IDA: Inferred from direct assay	12504588	GOA
involved in positive regulation of vascular endothelial growth factor receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	21385766	GOA
involved in positive regulation of vascular endothelial growth factor signaling pathway	IMP IMP: Inferred from mutant phenotype	21385766	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell surface	IDA IDA: Inferred from direct assay	12504588	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	18566128	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ROBO1 Protein Structure

I-set

fn3

0
300
600
900
1200
1500
1651 a.a.

Protein Preferred Names

Protein Names

roundabout homolog 1

deleted in U twenty twenty

Related Diseases

Diseases

Alias

Pituitary Stalk Interruption Syndrome

Ectopic Neurohypophysis

Psis

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Renal Agenesis, Bilateral

Bilateral Renal Agenesis

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Dyslexia

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Reading Disorder

Specific Reading Disorder	Reading
Dyslexia	Developmental Reading Disorder

Corneal Neovascularization

Corneal Neovascularisation	Corneal Vascularisation
Extensive Superficial Corneal Vascularisation

Learning Disability

Learning Disabilities	Learning Disorders
Academic Skill Disorder	Learning Disorder

Specific Language Impairment

Language Impairment, Specific

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Hypermethioninemia Due To Adenosine Kinase Deficiency

Adk Hypermethioninemia	Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency
Hypermethioninemia Encephalopathy Due To Adk Deficiency	Mrt8
Mental Retardation, Autosomal Recessive 8, Formerly	Mrt8, Formerly
HMAKD	Mental Retardation, Autosomal Recessive 8

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Speech Disorder

Speech Disorders

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia	Diaphragmatic Hernia
Cdh	Congenital Diaphragmatic Defect
Hernia, Diaphragmatic	Dih
Hernia, Congenital Diaphragmatic	Hcd
Diaphragmatic Defect, Congenital	Diaphragm, Unilateral Agenesis Of
Hemidiaphragm, Agenesis Of	Diaphragmatic Hernia 1
Agenesis Of Hemidiaphragm	Unilateral Agenesis Of Diaphragm
Hernia Diaphragmatic	Hernia Diaphragmatic Congenital
Hernia, Diaphragmatic, Type 1	Hiatus Hernia
Oesophageal Hiatus Hernia	Paraoesophageal Hernia
Sliding Hiatus Hernia	Congenital Diaphragm Hernia
Congenital Diaphragm Defect With Hernia	Gross Congenital Diaphragm Defect

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12110	ROBO1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ROBO1	MGD	MGI:1274781
Rattus norvegicus	ROBO1	RGD	RGD:61941
Macaca mulatta	ROBO1	VGNC	VGNC:76713
Canis familiaris	ROBO1	VGNC	VGNC:45684
Felis catus	ROBO1	VGNC	VGNC:102830
Bos taurus	ROBO1	VGNC	VGNC:34078
Others	ROBO1	NCBI

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