RNF170 Gene Summary [Human]
This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
Details
| Type | Protein Coding |
| Official Symbol | RNF170 |
| Official Name | ring finger protein 170 [Source:HGNC Symbol;Acc:HGNC:25358] |
| Ensembl ID | ENSG00000120925 |
| Bio databases IDs | |
| Aliases | ring finger protein 170 |
| Synonyms | 6720407G21RIK, ADSA, AI481227, LOC100361542, ring finger protein 170, SNAX1, SPG85 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RNF170 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RING-type zinc-finger
- ubiquitin protein ligase activity
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- zinc finger of C3HC4-type, RING
- Ring finger
- enzyme
- Ring finger domain
- protein binding
- Protein of unknown function (DUF1232)
- Zinc finger, C3HC4 type (RING finger)
- zinc-RING finger domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive spastic paraplegia type 85
- autosomal dominant sensory ataxia type 1
- neurodevelopmental disorder
- spastic paraplegia
- infection by HIV-1
regulates
- proteasome
- ITPR1
role in cell
- ubiquitination in
- mono-ubiquitination in
- K63 polyubiquitination in
- K48 polyubiquitination in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RNF170 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of toll-like receptor 3 signaling pathway
- protein K48-linked ubiquitination
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding