DNAJB11
Function
As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins (PubMed:10827079, PubMed:15525676, PubMed:29706351). Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded peptide chains, but dissociates from the HSPA5-unfolded protein complex before folding is completed (PubMed:15525676). May help recruiting HSPA5 and other chaperones to the substrate. Stimulates HSPA5 ATPase activity (PubMed:10827079). It is necessary for maturation and correct trafficking of PKD1 (PubMed:29706351).
Involvement in disease
Polycystic kidney disease 6 with or without polycystic liver disease
PKD6
A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD6 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Contains high-mannose Endo H-sensitive carbohydrates.
Cys-169, Cys-171, Cys-193 and Cys-196 form intramolecular disulfide bonds. The preferential partner for each Cys is not known.
Thr-188 was reported to be phosphorylated upon DNA damage by ATM or ATR; however as this position has been shown to be in the ER lumen, the in vivo relevance is not proven.
Tissue Specificity
Widely expressed.
Cellular localization
- Endoplasmic reticulum lumen
- Associated with the ER membrane in a C-terminally epitope-tagged construct.
Alternative names
EDJ, ERJ3, HDJ9, PSEC0121, UNQ537/PRO1080, DNAJB11, DnaJ homolog subfamily B member 11, APOBEC1-binding protein 2, DnaJ protein homolog 9, ER-associated DNAJ, ER-associated Hsp40 co-chaperone, Endoplasmic reticulum DNA J domain-containing protein 3, HEDJ, Human DnaJ protein 9, PWP1-interacting protein 4, ABBP-2, ER-resident protein ERdj3, ERdj3, ERj3p, hDj-9