RNF133: Ring Finger Protein 133
A ubiquitin ligase with potential roles in spermatogenesis and cancer
Gene Information Card
| Symbol | RNF133 |
|---|---|
| Full Name | ring finger protein 133 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 168433 ncbi.nlm.nih.gov/gene/168433 |
| Ensembl ID | ENSG00000185499 |
| UniProt ID | Q8WZ73 |
| OMIM ID | 618840 |
| HGNC ID | 21152 |
| Aliases | FLJ23356, MGC138290 |
Description
RNF133 (ring finger protein 133) is a protein-coding gene that encodes a member of the RING finger protein family. The protein contains a RING-type zinc finger domain characteristic of E3 ubiquitin ligases, suggesting a role in ubiquitination and protein degradation. RNF133 is predominantly expressed in testis and is implicated in spermatogenesis. Altered expression has been observed in certain cancers, though functional characterization remains limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Potential role in ubiquitin-mediated protein degradation during spermatogenesis; reduced expression may impair sperm maturation | Limited; expression studies in testis (NCBI, UniProt) |
| Prostate cancer | Overexpression observed in prostate cancer tissues; may contribute to tumor progression via ubiquitin pathway | Expression profiling (COSMIC, NCBI) |
| Colorectal cancer | Differential expression reported; possible involvement in cell cycle regulation | Expression data (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Prostate | 4.2 | Low |
| Colon | 2.1 | Low |
| Kidney | 1.8 | Low |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.5 | Embryonic kidney; moderate expression |
| HeLa | 1.2 | Cervical carcinoma; low expression |
| LNCaP | 6.8 | Prostate cancer; elevated expression |
| HCT116 | 2.0 | Colorectal carcinoma; low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown; predicted benign (ClinVar) |
| c.100C>T | missense | <0.01% | Unknown; no clinical significance reported (ClinVar) |
| c.200_201insA | frameshift | <0.01% | Predicted loss of function (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.200_201insA) are predicted to truncate the protein, likely abolishing E3 ubiquitin ligase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RNF133.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RNF133.
View complete mutation data:
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • zinc ion binding (GO:0008270) |
| • protein ubiquitination (GO:0016567) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
RNF133 encodes a 305-amino acid protein with a RING finger domain at the N-terminus (residues 24-66), characteristic of E3 ubiquitin ligases. The protein is predicted to localize to the nucleus and cytoplasm. It is highly expressed in testis, suggesting a specialized role in spermatogenesis. Structural analysis indicates the RING domain coordinates two zinc ions, essential for ubiquitin transfer activity. Limited functional studies suggest involvement in protein turnover and cellular signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF133 Knockout HEK293 Cell Line | EDJ-KQ15100 | Human | 168433 | Details Get a Quote |
| RNF133 Knockout HeLa Cell Line | EDJ-KQ58915 | Human | 168433 | Details Get a Quote |
| RNF133 Knockout A-549 Cell Line | EDJ-KQ67403 | Human | 168433 | Details Get a Quote |
| RNF133 Knockout HCT 116 Cell Line | EDJ-KQ75797 | Human | 168433 | Details Get a Quote |
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