RNF41 (E3 Ubiquitin-Protein Ligase RNF41) - Structure, Function, and Clinical Significance
A comprehensive overview of the RNF41 gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | RNF41 |
|---|---|
| Full Name | Ring Finger Protein 41 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 10193 ncbi.nlm.nih.gov/gene/10193 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9H4P4 |
| OMIM ID | 610989 |
| HGNC ID | 17256 |
| Aliases | NRDP1, FLJ11021, MGC126851 |
Description
RNF41 (Ring Finger Protein 41), also known as NRDP1 (Neuregulin Receptor Degradation Protein 1), encodes an E3 ubiquitin-protein ligase that plays a critical role in the ubiquitin-proteasome system. It regulates the degradation of several receptor tyrosine kinases (RTKs) and other signaling molecules, thereby influencing cell proliferation, differentiation, and apoptosis. RNF41 is involved in multiple cellular processes including neurogenesis, immune response, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | RNF41 regulates ErbB3 receptor degradation; altered expression may affect tumor growth and therapy response. | PMID: 17974914; TCGA data |
| Colorectal Cancer | RNF41 expression is downregulated in colorectal cancer, potentially affecting Wnt signaling and cell adhesion. | PMID: 23251401 |
| Neurodegenerative Diseases | RNF41 interacts with Parkin and may influence mitophagy, implicated in Parkinson's disease. | PMID: 21123617 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 15.3 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical cancer cell line |
| MCF7 | 22.3 | Breast cancer cell line |
| A549 | 14.2 | Lung cancer cell line |
| HEK293 | 16.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.421C>T (p.Arg141Cys) | Missense | 0.001% (gnomAD) | Potential loss of E3 ligase activity |
| c.758A>G (p.Asn253Ser) | Missense | 0.002% (gnomAD) | Unknown; predicted benign |
| c.1024_1025insA (p.Thr342AsnfsTer5) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair the RING finger domain or catalytic activity reduce ubiquitination of substrates, leading to accumulation of RTKs and aberrant signaling.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression may enhance degradation of tumor suppressors.
Dominant Negative (DN)
Truncated forms may interfere with wild-type RNF41 dimerization, reducing overall ligase activity.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• ErbB signaling pathway (KEGG hsa04012)
• Endocytosis (KEGG hsa04144)
Protein Summary
RNF41 is a 317-amino acid protein with a RING finger domain at the N-terminus and a coiled-coil region. It functions as an E3 ubiquitin ligase, targeting substrates such as ErbB3, ErbB4, and the kinase MLK3 for proteasomal degradation. It also interacts with Parkin, suggesting a role in mitochondrial quality control. RNF41 is widely expressed, with highest levels in testis and brain. Its dysregulation is linked to cancer and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF41 Knockout HEK293 Cell Line | EDJ-KQ2192 | Human | 10193 | Details Get a Quote |
| RNF41 Knockout A-549 Cell Line | EDJ-KQ22420 | Human | 10193 | Details Get a Quote |
| RNF41 Knockout HCT 116 Cell Line | EDJ-KQ22421 | Human | 10193 | Details Get a Quote |
| RNF41 Knockout HeLa Cell Line | EDJ-KQ22422 | Human | 10193 | Details Get a Quote |
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