RNF170: Ring Finger Protein 170
An E3 ubiquitin ligase involved in endoplasmic reticulum-associated degradation and calcium signaling
Gene Information Card
| Symbol | RNF170 |
|---|---|
| Full Name | Ring Finger Protein 170 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p12 |
| NCBI Gene ID | 81790 ncbi.nlm.nih.gov/gene/81790 |
| Ensembl ID | ENSG00000120907 |
| UniProt ID | Q9H6Y7 |
| OMIM ID | 614649 |
| HGNC ID | 25358 |
| Aliases | FLJ22693, MGC131831 |
Description
RNF170 encodes a transmembrane E3 ubiquitin ligase localized to the endoplasmic reticulum (ER). It is a component of the ER-associated degradation (ERAD) pathway, targeting misfolded proteins for ubiquitination and proteasomal degradation. The protein also regulates inositol 1,4,5-trisphosphate (IP3) receptor activity and calcium signaling. Mutations in RNF170 are associated with autosomal recessive spastic paraplegia type 85 (SPG85) and hereditary sensory and autonomic neuropathy type 2 (HSAN2).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive spastic paraplegia 85 (SPG85) | Loss-of-function mutations impair ERAD, leading to accumulation of misfolded proteins and neuronal degeneration | PMID: 28823725 |
| Hereditary sensory and autonomic neuropathy type 2 (HSAN2) | Missense mutations disrupt IP3 receptor regulation, altering calcium homeostasis in sensory neurons | PMID: 28823725 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Spinal cord | 9.8 | Medium |
| Testis | 8.5 | Medium |
| Heart | 6.2 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.2 | High expression |
| HEK293 (embryonic kidney) | 10.5 | Moderate expression |
| HeLa (cervical carcinoma) | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.340C>T (p.Arg114*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.497G>A (p.Arg166His) | Missense | Rare | Alters IP3 receptor binding; gain of function in calcium leak |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg114*) lead to premature termination and loss of E3 ligase activity, impairing ERAD.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg166His) enhance IP3 receptor activity, causing abnormal calcium release.
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • endoplasmic reticulum (GO:0005783) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • integral component of membrane (GO:0016021) |
| • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) | • metal ion binding (GO:0046872) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD)
• Ubiquitin-proteasome system
• IP3 receptor-mediated calcium signaling
Protein Summary
RNF170 is a 257-amino acid transmembrane protein with a RING-type zinc finger domain at the N-terminus, conferring E3 ubiquitin ligase activity. It resides in the ER membrane and mediates ubiquitination of misfolded luminal proteins for ERAD. Additionally, RNF170 interacts with IP3 receptors to regulate calcium release from the ER. Loss of function leads to ER stress and neurodegeneration, while specific missense mutations cause calcium dyshomeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF170 Knockout HEK293 Cell Line | EDJ-KQ3040 | Human | 81790 | Details Get a Quote |
| RNF170 Knockout HeLa Cell Line | EDJ-KQ22911 | Human | 81790 | Details Get a Quote |
| RNF170 Knockout A-549 Cell Line | EDJ-KQ24280 | Human | 81790 | Details Get a Quote |
| RNF170 Knockout HCT 116 Cell Line | EDJ-KQ24281 | Human | 81790 | Details Get a Quote |
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