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 Spastic Paraplegia 62, Autosomal Recessive. Gene Ontology (GO) annotations related to this gene include ligase activity.
UniProtKB/Swiss-Prot Summary 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.