RNF114 Gene - Structure, Function, and Disease Associations
A comprehensive overview of the RNF114 gene, its protein product, expression patterns, and clinical significance.
Gene Information Card
| Symbol | RNF114 |
|---|---|
| Full Name | Ring Finger Protein 114 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 8734 ncbi.nlm.nih.gov/gene/8734 |
| Ensembl ID | ENSG00000101442 |
| UniProt ID | Q9Y508 |
| OMIM ID | 612839 |
| HGNC ID | HGNC:17155 |
| Aliases | ZNF313, FLJ12529, RNF114 |
Description
RNF114 (Ring Finger Protein 114), also known as ZNF313, is a protein-coding gene located on chromosome 20q13.13. It encodes a RING finger domain-containing protein that functions as an E3 ubiquitin ligase, playing roles in ubiquitination and protein degradation. RNF114 is involved in various cellular processes including DNA repair, cell cycle regulation, and immune responses. It has been associated with psoriasis susceptibility and is implicated in several cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Psoriasis | RNF114 variants are associated with increased risk of psoriasis, possibly through altered ubiquitin-mediated regulation of immune signaling. | GWAS studies (e.g., Tsoi et al., 2012) identified RNF114 as a susceptibility locus. |
| Cancer (various) | RNF114 may act as a tumor suppressor or oncogene depending on context; altered expression affects cell proliferation and apoptosis. | Expression studies in breast, lung, and colorectal cancers show dysregulation; functional studies indicate roles in p53 pathway. |
| Atopic Dermatitis | RNF114 variants have been linked to atopic dermatitis in some populations, suggesting shared immune pathways. | Association studies (e.g., Weidinger et al., 2013) report significant SNPs. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lymph Node | 8.2 | Low |
| Spleen | 7.1 | Low |
| Testis | 15.3 | Medium |
| Brain | 5.4 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line; high expression |
| A549 | 12.3 | Lung carcinoma; moderate expression |
| MCF7 | 9.8 | Breast cancer; moderate expression |
| K562 | 6.4 | Leukemia; low expression |
| HepG2 | 4.2 | Liver cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1051738 | SNP (intronic) | ~30% in European populations | Associated with psoriasis risk; may affect splicing or regulatory elements. |
| rs2235617 | SNP (3' UTR) | ~25% in Asian populations | Linked to atopic dermatitis; potential miRNA binding alteration. |
| c.455C>T (p.Pro152Leu) | Missense | Rare (<1%) | Reported in a psoriasis patient; functional impact unknown. |
| c.682A>G (p.Thr228Ala) | Missense | Rare (<1%) | Observed in cancer samples; may affect protein stability. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in RNF114 are rare; knockdown studies show impaired DNA repair and increased apoptosis, suggesting a tumor suppressor role in some contexts.
Gain of Function (GOF)
Overexpression of RNF114 has been observed in certain cancers, potentially enhancing cell proliferation and survival, indicating oncogenic properties.
Dominant Negative (DN)
No dominant-negative mutations have been characterized; however, some missense variants may interfere with substrate binding, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • Ubiquitin-protein transferase activity | • Zinc ion binding |
| • Protein ubiquitination | • DNA repair |
| • Cell cycle regulation | • Immune response |
| • Cytoplasm | • Nucleus |
Pathways
• Ubiquitin-mediated proteolysis
• p53 signaling pathway
• DNA damage response
• Cytokine signaling in immune system
Protein Summary
The RNF114 protein is a 303-amino acid RING finger E3 ubiquitin ligase. It contains a RING finger domain and two zinc finger domains. It ubiquitinates substrates, targeting them for proteasomal degradation. RNF114 interacts with p53 and other proteins, influencing cell cycle and apoptosis. It is widely expressed, with higher levels in skin and testis. Its role in psoriasis and cancer highlights its importance in immune and proliferative pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF114 Knockout HEK293 Cell Line | EDJ-KQ2754 | Human | 55905 | Details Get a Quote |
| RNF114 Knockout A-549 Cell Line | EDJ-KQ23646 | Human | 55905 | Details Get a Quote |
| RNF114 Knockout HCT 116 Cell Line | EDJ-KQ23647 | Human | 55905 | Details Get a Quote |
| RNF114 Knockout HeLa Cell Line | EDJ-KQ23648 | Human | 55905 | Details Get a Quote |
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