RNF13 (Ring Finger Protein 13): Structure, Function, and Disease Relevance
A comprehensive overview of the RNF13 gene, its protein product, expression patterns, mutations, and clinical significance.
Gene Information Card
| Symbol | RNF13 |
|---|---|
| Full Name | Ring Finger Protein 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.1 |
| NCBI Gene ID | 11334 ncbi.nlm.nih.gov/gene/11334 |
| Ensembl ID | ENSG00000182979 |
| UniProt ID | O43567 |
| OMIM ID | 609247 |
| HGNC ID | 10057 |
| Aliases | RNF13; RING finger protein 13; RING-type E3 ubiquitin transferase RNF13 |
Description
RNF13 (Ring Finger Protein 13) is a protein-coding gene located on chromosome 3q25.1. It encodes a RING-type E3 ubiquitin ligase that plays a role in protein ubiquitination and degradation, influencing various cellular processes including cell proliferation, apoptosis, and stress responses. RNF13 is involved in the regulation of the endoplasmic reticulum (ER) stress response and has been implicated in cancer progression and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | RNF13 acts as a tumor suppressor or oncogene depending on context; altered expression affects cell proliferation and apoptosis via ubiquitination of key substrates. | COSMIC, PubMed (via NCBI) |
| Neurodegenerative disorders | RNF13 modulates ER stress-induced apoptosis, potentially contributing to neuronal cell death. | UniProt, PubMed (via NCBI) |
| Inflammatory diseases | RNF13 regulates NF-kappaB signaling, influencing inflammatory responses. | UniProt, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.2 | Low |
| Testis | 15.4 | Medium |
| Placenta | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| A549 | 7.5 | Lung carcinoma |
| HepG2 | 6.3 | Hepatocellular carcinoma |
| MCF7 | 8.1 | Breast adenocarcinoma |
| K562 | 5.9 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.01% (gnomAD) | Potential impact on protein stability; clinical significance unknown |
| c.456C>T (p.R152*) | Nonsense | Rare | Loss of function; may predispose to cancer |
| c.789_790insA (p.E263fs) | Frameshift | Rare | Loss of function; associated with altered ER stress response |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., nonsense, frameshift) reduce RNF13 E3 ligase activity, impairing ubiquitination of substrates and leading to dysregulated cell survival and proliferation.
Gain of Function (GOF)
Gain-of-function mutations (e.g., certain missense) may enhance RNF13 activity, promoting excessive degradation of tumor suppressors and contributing to oncogenesis.
Dominant Negative (DN)
Dominant-negative mutations (e.g., truncated forms) can interfere with wild-type RNF13 function, disrupting normal ubiquitination pathways and cellular homeostasis.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin-mediated proteolysis (KEGG hsa04120)
• Endoplasmic reticulum stress response (UniProt)
• NF-kappaB signaling pathway (Reactome)
Protein Summary
RNF13 is a 403-amino acid protein with a RING finger domain, a zinc finger domain, and a C-terminal domain. It localizes to the endoplasmic reticulum and cytoplasm. As an E3 ubiquitin ligase, it catalyzes the transfer of ubiquitin to substrate proteins, marking them for proteasomal degradation. RNF13 is involved in ER stress-induced apoptosis, cell cycle regulation, and immune responses. Its expression is altered in various cancers, suggesting a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF139 Knockout HEK293 Cell Line | EDJ-KQ1624 | Human | 11236 | Details Get a Quote |
| RNF13 Knockout HEK293 Cell Line | EDJ-KQ7378 | Human | 11342 | Details Get a Quote |
| RNF135 Knockout HEK293 Cell Line | EDJ-KQ10051 | Human | 84282 | Details Get a Quote |
| RNF138 Knockout HEK293 Cell Line | EDJ-KQ10397 | Human | 51444 | Details Get a Quote |
| RNF130 Knockout HEK293 Cell Line | EDJ-KQ14333 | Human | 55819 | Details Get a Quote |
| RNF133 Knockout HEK293 Cell Line | EDJ-KQ15100 | Human | 168433 | Details Get a Quote |
| RNF135 Knockout A-549 Cell Line | EDJ-KQ37080 | Human | 84282 | Details Get a Quote |
| RNF135 Knockout HCT 116 Cell Line | EDJ-KQ37081 | Human | 84282 | Details Get a Quote |
| RNF135 Knockout HeLa Cell Line | EDJ-KQ37082 | Human | 84282 | Details Get a Quote |
| RNF138 Knockout A-549 Cell Line | EDJ-KQ39049 | Human | 51444 | Details Get a Quote |
| RNF138 Knockout HCT 116 Cell Line | EDJ-KQ39051 | Human | 51444 | Details Get a Quote |
| RNF138 Knockout HeLa Cell Line | EDJ-KQ39052 | Human | 51444 | Details Get a Quote |
| RNF139 Knockout A-549 Cell Line | EDJ-KQ22652 | Human | 11236 | Details Get a Quote |
| RNF139 Knockout HCT 116 Cell Line | EDJ-KQ22654 | Human | 11236 | Details Get a Quote |
| RNF139 Knockout HeLa Cell Line | EDJ-KQ22655 | Human | 11236 | Details Get a Quote |
Displaying Records 1 To 15 Of 24 Records
