Aliases for PKD1 Gene
- Polycystin 1, Transient Receptor Potential Channel Interacting 2 3 5
- Transient Receptor Potential Cation Channel, Subfamily P, Member 1 2 3
- Autosomal Dominant Polycystic Kidney Disease 1 Protein 3 4
- Polycystic Kidney Disease 1 (Autosomal Dominant) 2 3
- PC1 3 4
- Polycystic Kidney Disease-Associated Protein 3
External Ids for PKD1 Gene
Previous GeneCards Identifiers for PKD1 Gene
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]
GeneCards Summary for PKD1 Gene
PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting) is a Protein Coding gene. Diseases associated with PKD1 include Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein domain specific binding. An important paralog of this gene is PKD1L1.
UniProtKB/Swiss-Prot for PKD1 Gene
Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). 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 (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.