RNF170, Official Symbol RNF170provided by HGNC Official Full Name ring finger protein 170provided by HGNC Primary source HGNC:HGNC:25358 See related Ensembl:ENSG00000120925 MIM:614649; AllianceGenome:HGNC:25358 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ADSA; SNAX1; SPG85 Summary 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] Expression Ubiquitous expression in thyroid (RPKM 10.8), brain (RPKM 6.2) and 24 other tissues See more Orthologs mouse all