| Background: | 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. |
| UniProt Protein Function: | Involved in renal tubulogenesis (PubMed:12482949). 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. |
| NCBI Summary: | 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] |
| UniProt Code: | P98161 |
| NCBI GenInfo Identifier: | 205360962 |
| NCBI Gene ID: | 5310 |
| NCBI Accession: | NP_000287.3 |
| UniProt Secondary Accession: | P98161,Q15140, Q15141, |
| UniProt Related Accession: | P98161 |
| Molecular Weight: | 462,401 Da |
| NCBI Full Name: | polycystin-1 isoform 2 |
| NCBI Synonym Full Names: | polycystin 1, transient receptor potential channel interacting |
| NCBI Official Symbol: | PKD1 |
| NCBI Official Synonym Symbols: | PBP; PC1; Pc-1; TRPP1 |
| NCBI Protein Information: | polycystin-1 |
| UniProt Protein Name: | Polycystin-1 |
| UniProt Synonym Protein Names: | Autosomal dominant polycystic kidney disease 1 protein |
| Protein Family: | Polycystin |
| UniProt Gene Name: | PKD1 |
