| Symbol |
RNF13 |
| Full Name |
Ring Finger Protein 13 |
| Chromosome |
3q25.1 |
| NCBI Gene |
11320 |
| Ensembl |
ENSG00000082996 |
| OMIM |
604555 |
| UniProt |
O43573 |
| Diseases |
[Breast Cancer](/diseases/breast-cancer), [Parkinson's Disease](/diseases/parkinsons-disease) |
| Expression |
Ubiquitously expressed; high expression in brain, heart, lung |
RNF13 (Ring Finger Protein 13) is a gene located on chromosome 3q25.1 that encodes a RING finger E3 ubiquitin ligase. RNF13 is involved in protein ubiquitination and has been implicated in various cellular processes including immune responses, cell growth, and neurodegeneration. The gene has been studied in the context of cancer and neurological disorders [1][2].
The RNF13 gene spans approximately 30 kb and consists of 8 exons. The gene encodes a 516-amino acid protein with an N-terminal RING finger domain.
- Chromosome: 3q25.1
- Location: chr3: 151357177-151387940
- Strand: Plus strand
- Exons: 8
¶ Protein Structure and Function
¶ Domain Architecture
RNF13 contains:
- RING finger domain: C3H2C3-type RING finger for E3 ubiquitin ligase activity
- Transmembrane region: Predicted membrane-spanning segment
- C-terminal domain: Substrate recognition
- E3 ubiquitin ligase: Catalyzes ubiquitination of target proteins
- Protein quality control: Degrades misfolded or damaged proteins
- Signal transduction: Modulates various signaling pathways
- Immune regulation: Involved in immune cell function
- Cell proliferation: Affects cell cycle progression
- Stress responses: Participates in cellular stress pathways
RNF13 is frequently amplified or overexpressed in various cancers:
- Breast cancer
- Ovarian cancer
- Lung cancer
Mechanisms:
- Promotes cell proliferation
- Inhibits apoptosis
- May degrade tumor suppressors
RNF13 has been implicated in neurodegenerative diseases:
- Parkinson's disease: Altered expression in PD brain
- Alzheimer's disease: May affect protein clearance pathways
- Amyotrophic lateral sclerosis: Potential role in protein aggregation
RNF13 is ubiquitously expressed with highest levels in:
- Plasma membrane
- Endoplasmic reticulum
- Cytoplasmic vesicles
- Targeting RNF13: Developing inhibitors of RNF13 E3 ligase activity
- Synthetic lethality: Exploiting RNF13 overexpression in cancer cells
- Modulating RNF13 activity to enhance protein clearance
- Gene therapy approaches