PDZK1
Description
The PDZK1 (PDZ domain containing 1) is a protein-coding gene located on chromosome 1.
PDZK1, also known as NHE-RF3, is a protein encoded by the PDZK1 gene in humans. It acts as a regulatory cofactor for the Na(+)/H(+) exchanger. PDZK1 has been shown to interact with several proteins, including AKAP10, CLCN3, cystic fibrosis transmembrane conductance regulator (CFTR), FARP2, PDZK1IP1, SLC22A12, SLC22A4, SLC34A3, SLK, and the Sodium-hydrogen antiporter 3 regulator 1.
PDZK1 acts as a scaffold protein, connecting plasma membrane proteins and regulatory components within the apical domains of epithelial cells. This interaction regulates the surface expression of these proteins. PDZK1 is thought to play a role in coordinating various regulatory processes related to ion transport and second messenger cascades. In complex with NHERF1, PDZK1 may cluster functionally dependent proteins, modulating their trafficking and activity. PDZK1 might also contribute to cellular mechanisms associated with multidrug resistance through its interactions with ABCC2 and PDZK1IP1. Additionally, PDZK1 may enhance the activity of the CFTR chloride channel. It is essential for normal cell-surface expression of SCARB1 and contributes to maintaining normal plasma cholesterol levels through its influence on SCARB1. PDZK1 is involved in the proper localization and function of the chloride-anion exchanger SLC26A6 at the plasma membrane in the brush border of the kidney's proximal tubule. It is suggested to play a role in regulating proximal tubular Na(+)-dependent inorganic phosphate cotransport, ultimately impacting tubule function.
PDZK1 is also known as CAP70, CLAMP, NHERF-3, NHERF3, PDZD1.
Associated Diseases
- nonpapillary renal cell carcinoma
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- thyroid hormone metabolism, abnormal, 2
- sitosterolemia
- homozygous familial hypercholesterolemia
- hypercholesterolemia, autosomal dominant, 3
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- hypercholesterolemia, autosomal dominant, type B
- pancreatic triacylglycerol lipase deficiency
- plasma fibronectin deficiency
- hyperlipoproteinemia type V
