Ring finger protein 213 (RNF213)

Ring finger protein 213 (RNF213) is a very large intracellular protein (approximately 591 kDa) that functions as an E3 ubiquitin ligase and contains six AAA+ ATPase domains, which is unique in the human proteome[1][3]. It is involved in protein ubiquitination (labeling proteins for degradation), lipid metabolism, cell-autonomous immunity, and the response to microbial infection[1][5]. RNF213 is the major susceptibility gene for moyamoya disease, which is characterized by progressive narrowing of intracranial arteries and compensatory vessel formation, and is also associated with systemic vasculopathy and inflammation[3][4][6]. It is induced by interferon and can act as an antimicrobial effector, opposing infection by various viruses, bacteria, and parasites, sometimes through interactions with ISGylated proteins[1][5]. Variants in RNF213, notably p.R4810K and p.His4058Pro, are strongly associated with disease; RNF213 dysfunction influences immune and inflammatory responses, lipid droplets, and cellular responses to hypoxia[1][3][4][5]. Its exact molecular mechanisms are still being elucidated due to its size and complexity, but it is considered a promising target for understanding and potentially treating cerebrovascular, immune, and infectious diseases[1][2][3][4][5][6][7].

Other names

RNF213MysterinALO17MYMY2MYSTRNET57KIAA1618C17orf27