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.

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 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
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