DNAJB11

DNAJB11 (ERdj3, also HEDJ/ERj3p/ABBP-2) is a soluble, glycosylated, ER-lumenal HSP40/J-domain co-chaperone and the principal J-protein partner of the ER HSP70 chaperone BiP (HSPA5). Through its N-terminal J domain it binds and stimulates the ATPase activity of BiP, and through a cysteine-rich substrate-binding domain it binds unfolded and misfolded peptides directly; it recruits BiP to substrates and then dissociates as BiP engages, promoting proper folding, maturation, trafficking and ERAD-targeted degradation of secretory and membrane proteins. It is a stress (UPR)-inducible component of a large ER chaperone complex (with HSPA5, HSP90B1, HYOU1, PDIA proteins, SDF2L1, UGGT1 and others) and is required for the maturation and trafficking of polycystin-1 (PKD1). Monoallelic loss-of-function variants in DNAJB11 cause an atypical autosomal-dominant polycystic kidney disease (PKD6).

Disorders

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