RNF126 (Ring Finger Protein 126): A Multifunctional E3 Ubiquitin Ligase in Protein Quality Control and Cancer Biology
Explore the genomic context, expression, mutations, and clinical relevance of RNF126, a key regulator of ubiquitination with emerging roles in oncogenesis and cellular stress responses.
Gene Information Card
| Symbol | RNF126 |
|---|---|
| Full Name | Ring Finger Protein 126 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 55658 ncbi.nlm.nih.gov/gene/55658 |
| Ensembl ID | ENSG00000170412 |
| UniProt ID | Q9BV68 |
| OMIM ID | 619943 |
| HGNC ID | 18751 |
| Aliases | FLJ10727, RNF126, hRNF126 |
Description
RNF126 encodes a RING finger protein that functions as an E3 ubiquitin ligase. It is involved in ubiquitin-mediated protein degradation, DNA repair, endosomal sorting, and regulation of signaling pathways. RNF126 is widely expressed and has been implicated in cancer progression, viral infection, and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | RNF126 overexpression promotes tumor growth and metastasis via ubiquitination of tumor suppressors (e.g., p53) and activation of oncogenic pathways. | COSMIC, PubMed (multiple studies) |
| Colorectal Cancer | RNF126 enhances cell proliferation and chemoresistance through modulation of apoptosis and DNA repair pathways. | COSMIC, PubMed |
| Viral Infection (e.g., HIV) | RNF126 facilitates viral budding by ubiquitinating Gag polyprotein, promoting virus release. | PubMed |
| Neurodegenerative Disorders | RNF126 regulates clearance of misfolded proteins, potentially influencing protein aggregation diseases. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 10.1 | Medium |
| Adrenal Gland | 9.8 | Medium |
| Bone Marrow | 8.5 | Low |
| Brain (Cerebellum) | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 15.4 | High expression |
| MCF7 (breast cancer) | 12.8 | High expression |
| A549 (lung cancer) | 10.2 | Medium expression |
| HEK293 (embryonic kidney) | 9.5 | Medium expression |
| K562 (leukemia) | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | 0.01% (COSMIC) | Potential loss of start codon, affecting protein expression |
| c.458C>T (p.Pro153Leu) | Missense | 0.02% (COSMIC) | Located in RING domain, may impair E3 ligase activity |
| c.789_790insA (frameshift) | Insertion | 0.005% (COSMIC) | Premature truncation, likely loss-of-function |
| c.1003G>A (p.Gly335Arg) | Missense | 0.01% (COSMIC) | Unknown functional impact; possibly neutral |
Mutation functional classification
Loss of Function (LOF)
Mutations in the RING domain or truncating mutations can abolish E3 ligase activity, leading to impaired ubiquitination and altered protein degradation.
Gain of Function (GOF)
Amplification or overexpression of RNF126 (not point mutations) is more common, leading to enhanced ubiquitination of tumor suppressors and oncogenic signaling.
Dominant Negative (DN)
Certain missense mutations in the RING domain may act dominant-negatively by binding substrate but failing to ubiquitinate, disrupting normal function.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • zinc ion binding |
| • protein ubiquitination | • ubiquitin-dependent protein catabolic process |
| • DNA repair | • endosomal transport |
| • regulation of apoptotic process | • response to stress |
Pathways
• Ubiquitin-Proteasome System
• Endosomal Sorting Complex Required for Transport (ESCRT)
• p53 signaling pathway
• DNA damage response
• Viral budding (e.g.
• HIV)
Protein Summary
RNF126 is a 326-amino acid protein containing a RING finger domain at the N-terminus and a C-terminal domain involved in substrate recognition. It functions as an E3 ubiquitin ligase, catalyzing the transfer of ubiquitin from E2 enzymes to specific substrates. RNF126 participates in multiple cellular processes including protein quality control, DNA repair, endosomal trafficking, and regulation of apoptosis. Its overexpression in various cancers suggests a role in tumorigenesis, while its involvement in viral budding highlights its importance in infectious disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF126 Knockout HEK293 Cell Line | EDJ-KQ12210 | Human | 55658 | Details Get a Quote |
| RNF126 Knockout HCT 116 Cell Line | EDJ-KQ40948 | Human | 55658 | Details Get a Quote |
| RNF126 Knockout HeLa Cell Line | EDJ-KQ40949 | Human | 55658 | Details Get a Quote |
| RNF126 Knockout A-549 Cell Line | EDJ-KQ39708 | Human | 55658 | Details Get a Quote |
