RHOU (Ras Homolog Family Member U)
Atypical Rho GTPase Involved in Cell Migration, Adhesion, and Cancer Progression
Gene Information Card
| Symbol | RHOU |
|---|---|
| Full Name | Ras homolog family member U |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 58480 ncbi.nlm.nih.gov/gene/58480 |
| Ensembl ID | ENSG00000116584 |
| UniProt ID | Q7L0Q8 |
| OMIM ID | 606568 |
| HGNC ID | 17794 |
| Aliases | WRCH1, CDC42L, hG28K |
Description
RHOU (Ras homolog family member U) is a member of the Rho family of small GTPases, which are key regulators of the actin cytoskeleton, cell migration, and adhesion. Unlike classical Rho GTPases, RHOU is considered an atypical Rho GTPase because it lacks intrinsic GTPase activity and is regulated primarily by transcriptional and post-translational mechanisms. RHOU is involved in cell polarity, filopodia formation, and cell–cell adhesion. It has been implicated in several cancers, including breast, lung, and colorectal cancer, where it can promote invasion and metastasis. RHOU also plays a role in neuronal development and immune cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RHOU overexpression promotes cell migration and invasion via activation of Rac1 and Cdc42 signaling pathways. | PMID: 23431128; COSMIC |
| Lung cancer | RHOU upregulation correlates with poor prognosis and enhances metastatic potential through cytoskeletal remodeling. | PMID: 25605247; COSMIC |
| Colorectal cancer | RHOU expression is elevated in tumor tissues and contributes to epithelial–mesenchymal transition (EMT). | PMID: 27150010; COSMIC |
| Neurodevelopmental disorders | RHOU mutations have been associated with intellectual disability and autism spectrum disorder through altered neuronal morphology. | ClinVar; PMID: 27545674 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.7 | Low |
| Colon | 9.1 | Low |
| Kidney | 7.4 | Low |
| Liver | 4.2 | Not detected |
| Heart | 5.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| A549 (lung cancer) | 11.8 | Moderate expression |
| HCT116 (colorectal cancer) | 13.5 | High expression |
| HEK293 (embryonic kidney) | 9.0 | Low expression |
| SH-SY5Y (neuroblastoma) | 14.0 | High expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215G>A (p.Arg72Gln) | Missense | <0.01% | Altered GTP binding and reduced filopodia formation |
| c.458C>T (p.Thr153Met) | Missense | <0.01% | Impaired cell migration in vitro |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of protein expression; likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Start-loss and missense mutations that reduce protein stability or GTP binding lead to loss of RHOU function, impairing cell migration and adhesion.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for RHOU in the literature or curated databases.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg72Gln) may act in a dominant-negative manner by sequestering downstream effectors, but evidence is limited.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho family GTPases (Reactome: R-HSA-194315)
• Rac1/Pak1/p38/MMP2 pathway (KEGG: hsa04810)
Protein Summary
RHOU is a 283-amino-acid protein belonging to the Rho family of small GTPases. It contains a conserved GTP-binding domain but lacks the canonical C-terminal CAAX motif for prenylation. RHOU is localized to the plasma membrane and endosomes, where it regulates actin dynamics, cell polarity, and adhesion. It interacts with effectors such as PAK1, ROCK, and IQGAP1. RHOU is highly expressed in the brain and certain cancers, where it promotes invasive behavior.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RHOU Knockout HEK293 Cell Line | EDJ-KQ11995 | Human | 58480 | Details Get a Quote |
| RHOU Knockout HCT 116 Cell Line | EDJ-KQ39321 | Human | 58480 | Details Get a Quote |
| RHOU Knockout A-549 Cell Line | EDJ-KQ40571 | Human | 58480 | Details Get a Quote |
| RHOU Knockout HeLa Cell Line | EDJ-KQ56936 | Human | 58480 | Details Get a Quote |
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