| Symbol |
RNF10 |
| Full Name |
Ring Finger Protein 10 |
| Chromosome |
12q24.31 |
| NCBI Gene |
9921 |
| Ensembl |
ENSG00000137336 |
| OMIM |
607685 |
| UniProt |
Q8WTR0 |
| Diseases |
[Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis), [Alzheimer's Disease](/diseases/alzheimers) |
| Expression |
Ubiquitously expressed; high expression in brain, heart, skeletal muscle |
RNF10 (Ring Finger Protein 10) is a gene located on chromosome 12q24.31 that encodes a RING finger E3 ubiquitin ligase. RNF10 is involved in various cellular processes including protein degradation, signal transduction, and stress responses. The gene has been implicated in neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS) and Alzheimer's disease [1][2].
The RNF10 gene spans approximately 20 kb and consists of 9 exons. The gene encodes a 672-amino acid protein containing a RING finger domain.
- Chromosome: 12q24.31
- Location: chr12: 120949267-120970595
- Strand: Minus strand
- Exons: 9
¶ Protein Structure and Function
¶ Domain Architecture
RNF10 contains:
- RING finger domain: C3H2C3-type RING finger for E3 ubiquitin ligase activity
- Transmembrane domain: Predicted membrane association
- N-terminal region: Regulatory functions
- E3 ubiquitin ligase: Catalyzes attachment of ubiquitin to target proteins
- Protein degradation: Targets proteins for proteasomal or lysosomal degradation
- Signal regulation: Modulates various signaling pathways
- Stress responses: Involved in cellular stress signaling
- Transcription regulation: May affect gene expression
- Membrane protein quality control: Degrades misfolded membrane proteins
RNF10 has been implicated in ALS pathogenesis:
- Dysregulated expression: Altered RNF10 levels in ALS motor neurons
- Protein aggregation: May be involved in protein aggregation pathways
- ER stress: Linked to endoplasmic reticulum stress responses
RNF10 may play a role in AD:
- APP processing: Potential involvement in amyloid precursor protein metabolism
- Tau pathology: May affect tau ubiquitination
- Synaptic function: Implicated in synaptic protein turnover
RNF10 is ubiquitously expressed with highest levels in:
- Brain (cortex, hippocampus)
- Heart
- Skeletal muscle
- Kidney
- Endoplasmic reticulum membrane
- Cytoplasmic vesicles
- Nuclear envelope
- Modulating RNF10 activity: Developing compounds that affect its E3 ligase function
- Gene therapy: Restoring proper RNF10 expression
- Targeting downstream pathways: Understanding RNF10 substrates