Recombinant Human RING finger protein 170 (RNF170), Truncated

Uniprot Id

Q96K19

Target Species

Human

Target Name

RNF170

Target Full Name

E3 ubiquitin-protein ligase RNF170

Target Function

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.

Target Involvement

Ataxia, sensory, 1, autosomal dominant (SNAX1)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Target Tissue Specificity

Expressed in the spinal chord.

Target Synonyms

RNF170; E3 ubiquitin-protein ligase RNF170; Putative LAG1-interacting protein; RING finger protein 170; RING-type E3 ubiquitin transferase RNF170

Target Background

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.