ROBO1 - roundabout guidance receptor 1 Gene

Also Known as SAX3; DUTT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6091

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	References	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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-175200	DEL-S1	Ligand	98.50%	Unkown
HY-RS12110	ROBO1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20096	Robo1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26599	Robo1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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