Aliases for RNF170 Gene
External Ids for RNF170 Gene
Previous HGNC Symbols for RNF170 Gene
Previous GeneCards Identifiers for RNF170 Gene
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]
GeneCards Summary for RNF170 Gene
RNF170 (Ring Finger Protein 170) is a Protein Coding gene. Diseases associated with RNF170 include ataxia, sensory, 1, autosomal dominant and cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3. GO annotations related to this gene include ligase activity.
UniProtKB/Swiss-Prot for RNF170 Gene
E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells.