PDZK1

PDZK1 is 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.

PDZ domain containing 1

A scaffold protein that connects plasma membrane proteins and regulatory components, regulating their surface expression in epithelial cells apical domains. May be involved in the coordination of a diverse range of regulatory processes for ion transport and second messenger cascades. In complex with SLC9A3R1, may cluster proteins that are functionally dependent in a mutual fashion and modulate the trafficking and the activity of the associated membrane proteins. May play a role in the cellular mechanisms associated with multidrug resistance through its interaction with ABCC2 and PDZK1IP1. May potentiate the CFTR chloride channel activity. Required for normal cell-surface expression of SCARB1. Plays a role in maintaining normal plasma cholesterol levels via its effects on SCARB1. Plays a role in the normal localization and function of the chloride-anion exchanger SLC26A6 to the plasma membrane in the brush border of the proximal tubule of the kidney. May be involved in the regulation of proximal tubular Na+-dependent inorganic phosphate cotransport therefore playing an important role in tubule function (By similarity).

Carnitine transportManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of cation transmembrane transportManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of ion transmembrane transporter activityManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of protein localization to membraneManual Assertion Based On ExperimentIMP:ARUK-UCL
Positive regulation of protein targeting to membraneISS:UniProtKB
Protein localization to plasma membraneManual Assertion Based On ExperimentIBA:GO_Central
Regulation of anion transportISS:UniProtKB
Xenobiotic detoxification by transmembrane export across the plasma membrane1 PublicationNAS:UniProtKB

Membrane
Cell membrane
Associated with peripheral membranes. Localizes to the apical compartment of proximal tubular cells and to sinusoidal liver membranes.