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]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.00
Overall distribution
Tissue specific distribution
Mscore:
0.00
Overall
Tissue specific
Total fusion occurrence:
0
Overall
Tissue specific
Functional class:
Not specified
JensenLab PubMed score:
379.92 (Percentile rank: 88.58%)
PubTator score:
975.48 (Percentile rank: 96.42%)
Target development/druggability level:
TbioThese targets do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy one or more of the following criteria: 1) target is above the cutoff criteria for Tdark; 2) target is annotated with a Gene Ontology Molecular Function or Biological Process leaf term(s) with an Experimental Evidence code.
Tractability (small molecule):
N/A
Tractability (antibody):
Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted
