NET1 (Neuroepithelial Cell Transforming 1) Gene
A Rho Guanine Nucleotide Exchange Factor (RhoGEF) Involved in Cell Migration and Cancer
Gene Information Card
| Symbol | NET1 |
|---|---|
| Full Name | Neuroepithelial Cell Transforming 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p15.1 |
| NCBI Gene ID | 10276 ncbi.nlm.nih.gov/gene/10276 |
| Ensembl ID | ENSG00000173848 |
| UniProt ID | Q7Z628 |
| OMIM ID | 606450 |
| HGNC ID | 14592 |
| Aliases | ARHGEF8, NET1A, NET1B |
Description
NET1 (neuroepithelial cell transforming 1) encodes a Rho guanine nucleotide exchange factor (RhoGEF) that specifically activates RhoA small GTPases. It plays a critical role in cytoskeletal reorganization, cell migration, and proliferation. NET1 is implicated in various cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | NET1 overexpression activates RhoA signaling, promoting invasion and metastasis. | PMID: 19137020 |
| Gastric Cancer | NET1 upregulation correlates with poor prognosis and increased cell motility. | PMID: 21573172 |
| Colorectal Cancer | NET1 amplification and overexpression enhance tumor growth via RhoA. | PMID: 23034409 |
| Prostate Cancer | NET1 expression is elevated and associated with aggressive disease. | PMID: 25231368 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 4.7 | Low |
| Stomach | 5.9 | Low |
| Prostate | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast cancer) | 15.3 | High expression |
| A549 (Lung cancer) | 9.8 | Moderate expression |
| HCT116 (Colorectal cancer) | 11.2 | Moderate expression |
| PC3 (Prostate cancer) | 13.6 | High expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional effect |
| c.457G>A (p.Glu153Lys) | Missense | <0.1% | Unknown functional effect |
| c.1234_1235insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1234_1235insA) are predicted to truncate the protein, impairing RhoGEF activity.
Gain of Function (GOF)
Missense mutations in the DH domain may enhance RhoA activation, but evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
• RhoA signaling pathway (KEGG: hsa04810)
Protein Summary
NET1 is a 595-amino acid protein containing a Dbl homology (DH) domain and a pleckstrin homology (PH) domain, characteristic of RhoGEFs. It catalyzes the exchange of GDP for GTP on RhoA, leading to actin cytoskeleton remodeling. NET1 is predominantly cytoplasmic and is involved in cell adhesion, migration, and proliferation. Alternative splicing produces isoforms NET1A and NET1B.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NET1 Knockout HEK293 Cell Line | EDJ-KQ6988 | Human | 10276 | Details Get a Quote |
| NET1 Knockout A-549 Cell Line | EDJ-KQ31702 | Human | 10276 | Details Get a Quote |
| NET1 Knockout HCT 116 Cell Line | EDJ-KQ31703 | Human | 10276 | Details Get a Quote |
| NET1 Knockout HeLa Cell Line | EDJ-KQ31704 | Human | 10276 | Details Get a Quote |