RNF148
Ring Finger Protein 148
Gene Information Card
| Symbol | RNF148 |
|---|---|
| Full Name | Ring Finger Protein 148 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 378807 ncbi.nlm.nih.gov/gene/378807 |
| Ensembl ID | ENSG00000188672 |
| UniProt ID | Q8N6W0 |
| OMIM ID | 617055 |
| HGNC ID | 26970 |
| Aliases | FLJ32743, MGC35130 |
Description
RNF148 encodes a protein containing a RING finger domain, characteristic of E3 ubiquitin ligases. The protein is predicted to function in ubiquitination and protein degradation pathways. Expression data suggest roles in testis and other tissues, but detailed functional studies are limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression; potential role in tumorigenesis via ubiquitin-proteasome pathway | COSMIC; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 1.5 | Low |
| Lung | 0.8 | Not detected |
| Liver | 0.3 | Not detected |
| Kidney | 0.6 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| HeLa | 0.2 | Not detected |
| K562 | 0.1 | Not detected |
| MCF7 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
| c.200_201del | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations predicted to truncate the protein and abolish E3 ligase activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in RNF148.
Dominant Negative (DN)
No evidence for dominant-negative mutations in RNF148.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • zinc ion binding (GO:0008270) |
| • protein ubiquitination (GO:0016567) | • metal ion binding (GO:0046872) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
RNF148 is a 305-amino acid protein containing a RING-type zinc finger domain (C3HC4 type) at positions 24-65, which mediates E3 ubiquitin ligase activity. The protein is predicted to localize to the cytoplasm and nucleus. Its specific substrates and biological functions remain largely uncharacterized, but it may play a role in spermatogenesis and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF148 Knockout HEK293 Cell Line | EDJ-KQ15101 | Human | 378925 | Details Get a Quote |
| RNF148 Knockout HeLa Cell Line | EDJ-KQ59945 | Human | 378925 | Details Get a Quote |
| RNF148 Knockout A-549 Cell Line | EDJ-KQ68406 | Human | 378925 | Details Get a Quote |
| RNF148 Knockout HCT 116 Cell Line | EDJ-KQ76785 | Human | 378925 | Details Get a Quote |
