ROBO1: Roundabout Guidance Receptor 1
Key regulator of axon guidance, cell migration, and cancer metastasis
Gene Information Card
| Symbol | ROBO1 |
|---|---|
| Full Name | Roundabout Guidance Receptor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p12.3 |
| NCBI Gene ID | 6091 ncbi.nlm.nih.gov/gene/6091 |
| Ensembl ID | ENSG00000169885 |
| UniProt ID | Q9Y6N7 |
| OMIM ID | 602430 |
| HGNC ID | 10249 |
| Aliases | DUTT1, SAX3, ROBO |
Description
ROBO1 encodes a transmembrane receptor for SLIT proteins, functioning in axon guidance and neuronal migration. It also plays roles in cell adhesion, angiogenesis, and organogenesis. ROBO1 is implicated in cancer, where it can act as a tumor suppressor or promoter depending on context, and in developmental disorders such as congenital heart disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ROBO1 promoter hypermethylation leads to reduced expression, promoting metastasis | ClinVar, COSMIC |
| Prostate cancer | Loss of ROBO1 expression correlates with increased SLIT2 signaling and tumor progression | NCBI Gene, COSMIC |
| Congenital heart disease | ROBO1 mutations disrupt SLIT-ROBO signaling in cardiac neural crest cells | OMIM, ClinVar |
| Colorectal cancer | ROBO1 frameshift mutations and loss of heterozygosity contribute to tumorigenesis | COSMIC, NCBI Gene |
| Lung cancer | ROBO1 deletion or silencing via methylation is associated with poor prognosis | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Lung | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Heart | 4.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| SH-SY5Y | 11.2 | Neuroblastoma cell line |
| MCF7 | 3.4 | Breast cancer cell line |
| A549 | 5.6 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function; truncation of extracellular domain |
| c.567_568insA (p.Glu190fs) | Frameshift | <1% | Loss of function; premature stop codon |
| c.2345G>A (p.Gly782Asp) | Missense | <1% | Unknown; predicted damaging by SIFT |
| c.3456_3460del (p.Leu1152fs) | Frameshift | <1% | Loss of function; associated with colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the SLIT-binding domain, leading to reduced receptor signaling and increased cell migration in cancer.
Gain of Function (GOF)
Not well documented; rare missense variants may enhance receptor activity but evidence is limited.
Dominant Negative (DN)
Not reported for ROBO1; most mutations are loss-of-function with haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • axon guidance | • cell migration |
| • SLIT-ROBO signaling pathway | • receptor activity |
| • cell adhesion | • angiogenesis |
Pathways
• SLIT-ROBO signaling pathway
• Netrin signaling
• Developmental biology
Protein Summary
ROBO1 is a 1651-amino acid transmembrane receptor with five immunoglobulin-like domains and three fibronectin type III repeats in the extracellular region, and a cytoplasmic tail containing conserved motifs for signaling. It binds SLIT ligands to mediate repulsive cues in axon guidance and cell migration. The protein is glycosylated and undergoes proteolytic processing. UniProt ID: Q9Y6N7.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ROBO1 Knockout HEK293 Cell Line | EDJ-KQ2946 | Human | 6091 | Details Get a Quote |
| ROBO1 Knockout A-549 Cell Line | EDJ-KQ24072 | Human | 6091 | Details Get a Quote |
| ROBO1 Knockout HeLa Cell Line | EDJ-KQ24073 | Human | 6091 | Details Get a Quote |
| ROBO1 Knockout HCT 116 Cell Line | EDJ-KQ71292 | Human | 6091 | Details Get a Quote |
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