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.

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 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
Displaying Records 1 To 4 Of 4 Records
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