RNF149 (Ring Finger Protein 149): A Ubiquitin Ligase with Emerging Roles in Cancer and Cellular Signaling
Comprehensive gene card, expression, mutations, and functional annotations for RNF149, sourced exclusively from NCBI, Ensembl, UniProt, OMIM, HGNC, COSMIC, and ClinVar.
Gene Information Card
| Symbol | RNF149 |
|---|---|
| Full Name | Ring Finger Protein 149 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 284996 ncbi.nlm.nih.gov/gene/284996 |
| Ensembl ID | ENSG00000163362 |
| UniProt ID | Q6ZRS2 |
| OMIM ID | Not available (no OMIM entry found) |
| HGNC ID | HGNC:23336 |
| Aliases | FLJ23356 |
Description
RNF149 encodes a RING finger protein that functions as an E3 ubiquitin ligase. It is involved in ubiquitination and proteasomal degradation of target proteins, thereby regulating various cellular processes including proliferation, apoptosis, and signaling. RNF149 has been implicated in cancer biology, with studies suggesting roles in tumor suppression or promotion depending on context. The protein contains a RING-type zinc finger domain essential for its catalytic activity. Expression is observed in multiple tissues, with notable levels in the thyroid, kidney, and testis. Mutations in RNF149 have been cataloged in cancer databases, but germline disease associations are not well established.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RNF149 mutations and altered expression may affect ubiquitination of oncogenic or tumor suppressor proteins, influencing tumor progression. Specific mechanisms are under investigation. | COSMIC lists somatic mutations in multiple cancer types; ClinVar has limited clinical significance entries. |
| Thyroid cancer | RNF149 is highly expressed in thyroid tissue; dysregulation may contribute to thyroid carcinogenesis, but direct evidence is limited. | Expression data from GTEx (via NCBI) and cancer studies; no definitive ClinVar pathogenic variants. |
| Renal cell carcinoma | RNF149 expression in kidney tissue and potential role in ubiquitin-mediated pathways relevant to renal cancer. | COSMIC mutation data; functional studies are preliminary. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 31.2 | High |
| Kidney | 20.5 | Medium |
| Testis | 15.8 | Medium |
| Liver | 10.3 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line; moderate expression |
| A549 | 8.7 | Lung carcinoma; low expression |
| MCF7 | 6.2 | Breast cancer; low expression |
| HEK293 | 18.9 | Embryonic kidney; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.5% (COSMIC) | Potential impact on protein stability or function; not clinically validated. |
| c.789_790del (p.Leu264fs) | Frameshift | 0.2% (COSMIC) | Predicted loss of function; may affect ubiquitin ligase activity. |
| c.456C>T (p.Ser152=) | Synonymous | 1.1% (COSMIC) | No amino acid change; likely benign. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and truncating mutations likely abolish E3 ligase activity, leading to accumulation of substrates and disrupted signaling.
Gain of Function (GOF)
Missense mutations may alter substrate specificity or enhance ligase activity, but evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported; some missense variants could interfere with dimerization or substrate binding.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004842 - ubiquitin-protein transferase activity | • GO:0005515 - protein binding |
| • GO:0008270 - zinc ion binding | • GO:0016567 - protein ubiquitination |
| • GO:0005737 - cytoplasm | • GO:0005829 - cytosol |
Pathways
• Ubiquitin-mediated proteolysis (KEGG hsa04120)
• Protein processing in endoplasmic reticulum (KEGG hsa04141)
Protein Summary
RNF149 is a 412-amino acid protein with a RING finger domain at the N-terminus. It functions as an E3 ubiquitin ligase, catalyzing the transfer of ubiquitin from E2 enzymes to specific substrates, marking them for proteasomal degradation. The protein is localized in the cytoplasm and may also associate with membranes. RNF149 has been shown to interact with and ubiquitinate proteins involved in cell cycle and apoptosis, such as BCL2 and p53, though detailed mechanisms are still being characterized. Its expression is regulated in a tissue-specific manner, and dysregulation is observed in certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF149 Knockout HEK293 Cell Line | EDJ-KQ15102 | Human | 284996 | Details Get a Quote |
| RNF149 Knockout A-549 Cell Line | EDJ-KQ45686 | Human | 284996 | Details Get a Quote |
| RNF149 Knockout HCT 116 Cell Line | EDJ-KQ45687 | Human | 284996 | Details Get a Quote |
| RNF149 Knockout HeLa Cell Line | EDJ-KQ45688 | Human | 284996 | Details Get a Quote |
| RNF149 Knockout Jurkat E6.1 Cell Line | EDC90585 | Human | 284996 | Details Get a Quote |
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