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PDZK1
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For Research Use Only. Not For Clinical Use.
This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Predicted location
Intracellular
Single cell type specificity
Group enriched (Proximal tubular cells, Proximal enterocytes)
Immune cell specificity
Immune cell enriched (NK-cell)
Cell line specificity
Group enriched (RPTEC TERT1, T-47d)
Interaction
Interacts with PDZK1IP1 and ABCC2. Interacts (via PDZ domains 1 and 3) with SCARB1 (C-terminal domain). Forms a heterodimeric complex with SLC9A3R1. Interacts with AKAP2, BCR, CFTR, SLC22A12, SLC22A4, SLC22A5, SLC9A3R2 and SLC17A1. Component of a complex, composed of PDZK1, SYNGAP1, KLHL17 and NMDA receptors. Interacts (via PDZ1 domain) directly with KLHL17; the interaction is important for integrity of actin cytoskeleton structures in neurons. Interacts (via the first PDZ domain) with PTGIR (via non-isoprenylated C-terminus) (By similarity). Interacts (via C-terminal PDZ domain) with SLC26A6 (via C-terminal domain) (By similarity). Interacts (via C-terminal PDZ domain) with SLC9A3 (via C-terminal domain).
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