PDZ Domain Containing Protein 1 (PDZK1)

PDZK1, a PDZ domain-containing protein highly homologous to rat Diphor-1, is expressed in human kidney. Based on its sequence similarity to rat Diphor-1, they considered PDZK1 a likely candidate for autosomal dominant hypophosphatemic rickets (ADHR), which maps to 12p13. However, they found by PCR analysis of a human/rodent somatic cell hybrid mapping panel and by radiation hybrid analysis that the PDZK1 gene maps to 1q21, thereby excluding it as a candidate for ADHR.PDZK1 interacts with CMOAT (ABCC2), a canalicular multispecific organic anion transporter involved in multidrug resistance. The finding was considered of particular interest because proteins containing PDZ domains are involved in the clustering and signaling pathways of membrane-associated proteins, including ion channels.