Polycystin 1

PKD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1B4R
Identifiers
Aliases	PKD1, PBP, Pc-1, TRPP1, polycystin 1, transient receptor potential channel interacting, PC1
External IDs	OMIM: 601313; MGI: 97603; HomoloGene: 250; GeneCards: PKD1; OMA:PKD1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 2,088,708 bp[1] End 2,135,898 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 A3.3|17 12.4 cM Start 24,549,834 bp[2] End 24,596,508 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum anterior pituitary right frontal lobe gastric mucosa ascending aorta Descending thoracic aorta muscle layer of sigmoid colon body of uterus right coronary artery popliteal artery Top expressed in cerebellar cortex layer of retina neural layer of retina primary visual cortex hypothalamus superior frontal gyrus islet of Langerhans uterus olfactory bulb striatum of neuraxis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transmembrane transporter binding protein domain specific binding calcium channel activity protein binding protein kinase binding carbohydrate binding Cellular component cytoplasm integral component of membrane Golgi apparatus cell projection lateral plasma membrane membrane Golgi membrane plasma membrane integral component of plasma membrane cilium cell surface basolateral plasma membrane ciliary membrane Golgi-associated vesicle membrane extracellular exosome nucleus polycystin complex motile cilium Biological process calcium-independent cell-matrix adhesion calcium ion transport regulation of proteasomal protein catabolic process mesonephric tubule development renal system development receptor signaling pathway via JAK-STAT metanephric distal tubule morphogenesis regulation of mitotic spindle organization mesonephric duct development kidney development cytoplasmic sequestering of transcription factor positive regulation of cytosolic calcium ion concentration anatomical structure morphogenesis placenta blood vessel development embryonic placenta development in utero embryonic development response to fluid shear stress genitalia development metanephric ascending thin limb development metanephric proximal tubule development heart development cartilage development regulation of cell adhesion nitrogen compound metabolic process blood vessel development calcium ion transmembrane transport peptidyl-serine phosphorylation lymph vessel morphogenesis neural tube development protein export from nucleus detection of mechanical stimulus establishment of cell polarity spinal cord development metanephric collecting duct development liver development positive regulation of protein binding digestive tract development cell-matrix adhesion lung epithelium development branching morphogenesis of an epithelial tube cartilage condensation positive regulation of transcription by RNA polymerase II skin development homophilic cell adhesion via plasma membrane adhesion molecules cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5310 18763 Ensembl ENSG00000008710 ENSMUSG00000032855 UniProt P98161 O08852 RefSeq (mRNA) NM_000296 NM_001009944 NM_013630 RefSeq (protein) NP_000287 NP_001009944 NP_038658 Location (UCSC) Chr 16: 2.09 – 2.14 Mb Chr 17: 24.55 – 24.6 Mb PubMed search [3] [4]
Wikidata
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Polycystin 1 (PC1) is a protein that in humans is encoded by the PKD1 gene.^[5][6] Mutations of PKD1 are associated with most cases of autosomal dominant polycystic kidney disease, a severe hereditary disorder of the kidneys characterised by the development of renal cysts and severe kidney dysfunction.^[7]

PC1 is a membrane-bound protein 4303 amino acids in length expressed largely upon the primary cilium, as well as apical membranes, adherens junctions, and desmosomes.^[8] It has 11 transmembrane domains, a large extracellular N-terminal domain, and a short (about 200 amino acid) cytoplasmic C-terminal domain.^[8][9] This intracellular domain contains a coiled-coil domain through which PC1 interacts with polycystin 2 (PC2), a membrane-bound Ca²⁺-permeable ion channel.

PC1 has been proposed to act as a G protein–coupled receptor.^[8][10] The C-terminal domain may be cleaved in a number of different ways. In one instance, a ~35 kDa portion of the tail has been found to accumulate in the cell nucleus in response to decreased fluid flow in the mouse kidney.^[11] In another instance, a 15 kDa fragment may be yielded, interacting with transcriptional activator and co-activator STAT6 and p100, or components of the canonical Wnt signaling pathway in an inhibitory manner.^[12][13]

The structure of the human PKD1-PKD2 complex has been solved by cryo-electron microscopy, which showed a 1:3 ratio of PKD1 and PKD2 in the structure. PKD1 consists of a voltage-gated ion channel fold that interacts with PKD2.^[14]

PC1 mediates mechanosensation of fluid flow by the primary cilium in the renal epithelium and of mechanical deformation of articular cartilage.^[15]

Splice variants encoding different isoforms have been noted for PKD1. The gene is closely linked to six pseudogenes in a known duplicated region on chromosome 16p.^[16]

• GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Dominant