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].

polycystin 1, transient receptor potential channel interactingMIM:601313Ensembl:ENSG00000008710HGNC:HGNC:9008PA3552116p13.3

GO terms in PKD1

Term TypeEvidence TypeGO Term IDGO Des.
MFISSGO:0005262calcium channel activity
MFIPIGO:0005515protein binding
MFIPIGO:0019901protein kinase binding
MFIPIGO:0019904protein domain specific binding
MFIEAGO:0030246carbohydrate binding
MFIPIGO:0044325ion channel binding
BPIEAGO:0001502cartilage condensation
BPISSGO:0001701in utero embryonic development
BPISSGO:0001822kidney development
BPIEAGO:0001889liver development
BPISSGO:0001892embryonic placenta development
BPISSGO:0006611protein export from nucleus
BPISSGO:0007050cell cycle arrest
BPTASGO:0007156homophilic cell adhesion via plasma membrane adhesion molecules
BPTASGO:0007160cell-matrix adhesion
BPTASGO:0007161calcium-independent cell-matrix adhesion
BPIEAGO:0007204positive regulation of cytosolic calcium ion concentration
BPISSGO:0007259JAK-STAT cascade
BPIEPGO:0007507heart development
BPTASGO:0009653anatomical structure morphogenesis
BPISSGO:0018105peptidyl-serine phosphorylation
BPIEPGO:0021510spinal cord development
BPIEPGO:0021915neural tube development
BPIEAGO:0030010establishment of cell polarity
BPIEAGO:0030155regulation of cell adhesion
BPIDAGO:0031659positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle
BPISSGO:0032092positive regulation of protein binding
BPIEAGO:0034405response to fluid shear stress
BPIEAGO:0036303lymph vessel morphogenesis
BPISSGO:0042994cytoplasmic sequestering of transcription factor
BPIEPGO:0043588skin development
BPIDAGO:0045944positive regulation of transcription by RNA polymerase II
BPIEPGO:0048565digestive tract development
BPIDAGO:0048754branching morphogenesis of an epithelial tube
BPIEPGO:0048806genitalia development
BPISSGO:0050982detection of mechanical stimulus
BPIEPGO:0051216cartilage development
BPIEAGO:0060236regulation of mitotic spindle organization
BPIEPGO:0060428lung epithelium development
BPISSGO:0060674placenta blood vessel development
BPIDAGO:0061136regulation of proteasomal protein catabolic process
BPISSGO:0070588calcium ion transmembrane transport
BPIEPGO:0072164mesonephric tubule development
BPIEPGO:0072177mesonephric duct development
BPIEPGO:0072205metanephric collecting duct development
BPIEPGO:0072218metanephric ascending thin limb development
BPIEPGO:0072237metanephric proximal tubule development
BPIEPGO:0072287metanephric distal tubule morphogenesis
CCTASGO:0000139Golgi membrane
CCISSGO:0002133polycystin complex
CCIDAGO:0005886plasma membrane
CCTASGO:0005887integral component of plasma membrane
CCIEAGO:0009986cell surface
CCNASGO:0016021integral component of membrane
CCIDAGO:0016323basolateral plasma membrane
CCIEAGO:0016328lateral plasma membrane
CCTASGO:0030660Golgi-associated vesicle membrane
CCISSGO:0031514motile cilium
CCTASGO:0060170ciliary membrane
CCHDAGO:0070062extracellular exosome
CCIDAGO:0070062extracellular exosome

Gene expression in normal tissue: PKD1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in PKD1

DatabasePathway IDPathway Des.
wikipathwaysWP2571Polycystic Kidney Disease Pathway
wikipathwaysWP3670Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway
wikipathwaysWP3958GPR40 Pathway
wikipathwaysWP4239EMT transition in Colorectal Cancer
reactomeR-HSA-1852241Organelle biogenesis and maintenance
reactomeR-HSA-1852241Organelle biogenesis and maintenance
reactomeR-HSA-5617833Cilium Assembly
reactomeR-HSA-5617833Cilium Assembly
reactomeR-HSA-5620916VxPx cargo-targeting to cilium
reactomeR-HSA-5620916VxPx cargo-targeting to cilium
reactomeR-HSA-5620920Cargo trafficking to the periciliary membrane
reactomeR-HSA-5620920Cargo trafficking to the periciliary membrane

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PKD1