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Description

E3 ubiquitin-protein ligase RNF213 (UniProt: Q63HN8, also known as EC:2.3.2.27, ALK lymphoma oligomerization partner on chromosome 17, Mysterin, RING finger protein 213, RING-type E3 ubiquitin transferase RNF213) is encoded by the RNF213 (also known as ALO17, C17orf27, KIAA1554, KIAA1618, MYSTR) gene (Gene ID: 57674) in human. RNF213 is a widely expressed, homooligomeric cytosolic protein that is involved in the non-canonical Wnt signaling pathway in vascular development. It acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, which leads to the inhibition of the non-canonical Wnt signaling pathway and promotes vessel regression. Its activity is induced by pro-inflammatory cytokines. RNF213 contains a Zinc finger domain (aa 3997-4036), which is required for its ubiquitin-protein ligase activity. It also contains an AAA domain, which is associated with ATPase activity. Four isoforms of RNF213 have been described that are produced by alternative splicing. Mutations in RNF213 gene have been linked to Moyamoya disease 2 (MYMY2) disease, a progressive cerebral angiopathy that can lead to transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage.