Polycystin-1 (PKD1) ELISA Kit for Human

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

PKD1: Involved in renal tubulogenesis. Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Acts as a regulator of cilium length, together with PKD2. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling. May be an ion- channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions. Defects in PKD1 are the cause of polycystic kidney disease autosomal dominant type 1 (ADPKD1). ADPKD is characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. Its prevalence is estimated at about 1/1000. Belongs to the polycystin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 16p13.3

Cellular Component: basolateral plasma membrane; cilium; cytoplasm; Golgi membrane; integral to plasma membrane; nucleus; plasma membrane

Molecular Function: calcium channel activity; protein binding; protein domain specific binding; protein kinase binding

Biological Process: anatomical structure morphogenesis; branching morphogenesis of a tube; calcium-independent cell-matrix adhesion; cartilage development; cell cycle arrest; cell-matrix adhesion; cytoplasmic sequestering of transcription factor; detection of mechanical stimulus; embryonic placenta development; G1/S-specific positive regulation of cyclin-dependent protein kinase activity; genitalia development; gut development; heart development; homophilic cell adhesion; in utero embryonic development; JAK-STAT cascade; kidney development; neural tube development; peptidyl-serine phosphorylation; positive regulation of protein binding; positive regulation of transcription from RNA polymerase II promoter; protein export from nucleus; skin development; spinal cord development

Disease: Polycystic Kidney Disease 1