| NCBI 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] |
| UniProt Code: | Q96K19 |
| NCBI GenInfo Identifier: | 237858654 |
| NCBI Gene ID: | 81790 |
| NCBI Accession: | NP_112216 |
| UniProt Related Accession: | Q96K19 |
| Molecular Weight: | 30kDa |
| NCBI Full Name: | E3 ubiquitin-protein ligase RNF170 isoform a |
| NCBI Synonym Full Names: | ring finger protein 170 |
| NCBI Official Symbol: | RNF170 |
| NCBI Official Synonym Symbols: | ADSA; SNAX1 |
| NCBI Protein Information: | E3 ubiquitin-protein ligase RNF170 |
| UniProt Protein Name: | E3 ubiquitin-protein ligase RNF170 |
| UniProt Synonym Protein Names: | Putative LAG1-interacting protein; RING finger protein 170 |
| Protein Family: | E3 ubiquitin-protein ligase |
| UniProt Gene Name: | RNF170 |
| UniProt Entry Name: | RN170_HUMAN |
