RND1: Rho Family GTPase 1
A member of the Rho GTPase family involved in cytoskeletal dynamics and cell signaling
Gene Information Card
| Symbol | RND1 |
|---|---|
| Full Name | Rho family GTPase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 27289 ncbi.nlm.nih.gov/gene/27289 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q92730 |
| OMIM ID | 609038 |
| HGNC ID | 18314 |
| Aliases | Rho6, ARHN, RND1A, RND1B |
Description
RND1 (Rho family GTPase 1) encodes a member of the Rho GTPase family, which functions as a molecular switch regulating cytoskeletal organization, cell adhesion, and migration. Unlike classical Rho GTPases, RND1 lacks intrinsic GTPase activity and is constitutively active. It is involved in actin cytoskeleton remodeling, neurite outgrowth, and cell cycle progression. RND1 expression is altered in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RND1 overexpression promotes cell migration and invasion via actin cytoskeleton reorganization | PMID: 23454776 |
| Colorectal cancer | RND1 downregulation correlates with poor prognosis and increased metastatic potential | PMID: 25634217 |
| Lung cancer | RND1 silencing enhances tumor growth and metastasis through RhoA/ROCK pathway activation | PMID: 27588417 |
| Neuroblastoma | RND1 regulates neurite outgrowth and differentiation; altered expression linked to tumor progression | PMID: 14561739 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.7 | Low |
| Liver | 4.2 | Not detected |
| Kidney | 9.1 | Low |
| Testis | 15.8 | Medium |
| Placenta | 11.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | Embryonic kidney cells; moderate expression |
| HeLa | 7.8 | Cervical cancer cells; low expression |
| A549 | 5.2 | Lung adenocarcinoma cells; low expression |
| MCF7 | 18.6 | Breast cancer cells; high expression |
| SH-SY5Y | 22.1 | Neuroblastoma cells; high expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172C>T (p.Arg58Cys) | Missense | <0.01% | Altered GTP binding; potential loss of function |
| c.389A>G (p.Asn130Ser) | Missense | <0.01% | Unknown functional effect |
| c.454G>A (p.Gly152Arg) | Missense | <0.01% | Predicted damaging; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg58Cys) may impair GTP binding and downstream signaling, leading to reduced cytoskeletal regulation.
Gain of Function (GOF)
No documented gain-of-function mutations in RND1.
Dominant Negative (DN)
No dominant-negative mutations reported for RND1.
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 pathway (WikiPathways: WP3302)
• Actin cytoskeleton regulation (KEGG: hsa04810)
Protein Summary
RND1 is a 232-amino acid protein (UniProt Q92730) belonging to the Rho family of small GTPases. It contains a conserved GTP-binding domain but lacks intrinsic GTPase activity, rendering it constitutively active. RND1 localizes to the plasma membrane and cytoplasm, where it regulates actin cytoskeleton dynamics, cell adhesion, and migration. It interacts with effectors such as p190RhoGAP and SOCS7. RND1 is highly expressed in brain and testis, and its dysregulation is implicated in cancer progression and neuronal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RND1 Knockout HEK293 Cell Line | EDJ-KQ8745 | Human | 27289 | Details Get a Quote |
| RND1 Knockout A-549 Cell Line | EDJ-KQ34989 | Human | 27289 | Details Get a Quote |
| RND1 Knockout HCT 116 Cell Line | EDJ-KQ34990 | Human | 27289 | Details Get a Quote |
| RND1 Knockout HeLa Cell Line | EDJ-KQ56049 | Human | 27289 | Details Get a Quote |
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