Entrez 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 Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
zf-C3HC4
DUF1232
GO Terms
ubiquitin protein ligase activity
protein ubiquitination
protein modification by small protein conjugation
endoplasmic reticulum membrane
protein modification by small protein conjugation or removal
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)