Disease relevance of DNAJC13

• KIAA0678 was considered a good functional candidate gene for NPH3 and SLS3, because molecular cha- perones are involved in the etiology of renal and retinal diseases [1].

High impact information on DNAJC13

• Small interfering RNA-mediated knock down of RME-8 has no influence on transferrin endocytosis but causes a reduction in epidermal growth factor internalization [2].
• RME-8 is tightly associated with microsomal membranes and co-localizes with markers of the endosomal system [2].
• Endocytosis markers taken up by the coelomocytes rapidly accumulate in these large RME-8-positive endosomes, concentrate in internal subendosomal structures, and later appear in RME-8-negative lysosomes. rme-8 mutant coelomocytes fail to accumulate visible quantities of endocytosis markers [3].
• These observations show that RME-8 functions in endosomal trafficking before the lysosome [3].
• These sequence homologies suggest that RME-8 fulfills a conserved function in multicellular organisms [3].

Biological context of DNAJC13

• Analysis of the genomic structure of KIAA0678 identified 25 exons [1].

Anatomical context of DNAJC13

• In the macrophage-like coelomocytes, RME-8 localizes to the limiting membrane of large endosomes [3].

Other interactions of DNAJC13

• Within the critical NPHP3/SLSN3 region we identified the gene KIAA0678 encoding a DnaJ-like protein [1].
• Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3 [1].
• Here we describe a novel J-domain-containing protein, RME-8, identified by such genetic analysis [3].

References