PKD1

Summary

Gene Symbol: PKD1
Description: polycystin 1, transient receptor potential channel interacting
Alias: PBP, PC1, Pc-1, TRPP1, polycystin-1, autosomal dominant polycystic kidney disease 1 protein, polycystic kidney disease 1 (autosomal dominant), polycystic kidney disease-associated protein, transient receptor potential cation channel, subfamily P, member 1
Species: human
Products:     PKD1

Top Publications

  1. Brook Carter P, Peral B, Ward C, Thompson P, Hughes J, Maheshwar M, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet. 1994;8:328-32 pubmed
    ..which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to each other on chromosome 16p...
  2. Daniells C, Maheshwar M, Lazarou L, Davies F, Coles G, Ravine D. Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene. Hum Genet. 1998;102:216-20 pubmed
    A search has been conducted for disease-causing mutations in the PKD1 gene in 147 unrelated ADPKD index cases...
  3. Bycroft M, Bateman A, Clarke J, Hamill S, Sandford R, Thomas R, et al. The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease. EMBO J. 1999;18:297-305 pubmed publisher
    Most cases of autosomal dominant polycystic kidney disease (ADPKD) are the result of mutations in the PKD1 gene...
  4. Phakdeekitcharoen B, Watnick T, Ahn C, Whang D, Burkhart B, Germino G. Thirteen novel mutations of the replicated region of PKD1 in an Asian population. Kidney Int. 2000;58:1400-12 pubmed
    Mutations of PKD1 are thought to account for approximately 85% of all mutations in autosomal dominant polycystic kidney disease (ADPKD)...
  5. Reiterova J, Stekrova J, Merta M, Kotlas J, Elisáková V, Lnenicka P, et al. Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele. BMC Nephrol. 2013;14:59 pubmed publisher
    ..ADPKD caused by mutations in PKD1 gene is significantly more severe than the cases caused by PKD2 gene mutations...
  6. Li Y, Santoso N, Yu S, Woodward O, Qian F, Guggino W. Polycystin-1 interacts with inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling with implications for polycystic kidney disease. J Biol Chem. 2009;284:36431-41 pubmed publisher
    The PKD1 or PKD2 genes encode polycystins (PC) 1 and 2, which are associated with polycystic kidney disease...
  7. Nauli S, Rossetti S, Kolb R, Alenghat F, Consugar M, Harris P, et al. Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction. J Am Soc Nephrol. 2006;17:1015-25 pubmed
    ..It was reported previously that Pkd1(null/null) mouse kidney epithelial cells are unresponsive to flow stimulation...
  8. Aguiari G, Banzi M, Gessi S, Cai Y, Zeggio E, Manzati E, et al. Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. FASEB J. 2004;18:884-6 pubmed
    ..The same reductions were found in PKD2 and PKD1 RNA; thus, PKD genes maintained, in LCLs, the same reciprocal proportion as they do in kidney cells...
  9. Geng L, Segal Y, Peissel B, Deng N, Pei Y, Carone F, et al. Identification and localization of polycystin, the PKD1 gene product. J Clin Invest. 1996;98:2674-82 pubmed
    Polycystin, the product of autosomal dominant polycystic kidney disease (ADPKD) 1 gene (PKD1) is the cardinal member of a novel class of proteins...

More Information

Publications75

  1. Nims N, Vassmer D, Maser R. Transmembrane domain analysis of polycystin-1, the product of the polycystic kidney disease-1 (PKD1) gene: evidence for 11 membrane-spanning domains. Biochemistry. 2003;42:13035-48 pubmed
    Polycystin-1, the protein product of the polycystic kidney disease-1 (PKD1) gene, was originally predicted to be an integral membrane glycoprotein with 11 transmembrane (TM) domains (TM 1-11)...
  2. Chauvet V, Qian F, Boute N, Cai Y, Phakdeekitacharoen B, Onuchic L, et al. Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. Am J Pathol. 2002;160:973-83 pubmed
    ..Most cases result from mutations of PKD1 or PKD2 encoding polycystin-1 or polycystin-2, respectively...
  3. Yoo J, Rodriguez Perez C, Nie W, Sinnett Smith J, Rozengurt E. Protein kinase D1 mediates synergistic MMP-3 expression induced by TNF-? and bradykinin in human colonic myofibroblasts. Biochem Biophys Res Commun. 2011;413:30-5 pubmed publisher
    ..Transfection with siRNA targeting PKD1, a known downstream target of both bradykinin and PKC, completely inhibited MMP-3 mRNA and protein expression...
  4. Xu C, Rossetti S, Jiang L, Harris P, Brown Glaberman U, Wandinger Ness A, et al. Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling. Am J Physiol Renal Physiol. 2007;292:F930-45 pubmed
    ..Expression of wild-type and mutant CD16.7-PKD1(115-226) fusion proteins reveals within the COOH-terminal 112 amino acids of PC1 a coiled-coil domain-independent ..
  5. Roitbak T, Ward C, Harris P, Bacallao R, Ness S, Wandinger Ness A. A polycystin-1 multiprotein complex is disrupted in polycystic kidney disease cells. Mol Biol Cell. 2004;15:1334-46 pubmed
  6. Newby L, Streets A, Zhao Y, Harris P, Ward C, Ong A. Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex. J Biol Chem. 2002;277:20763-73 pubmed
    ..for the first time the existence of a native polycystin complex in mouse kidney tubular cells transgenic for PKD1, non-transgenic kidney cells, and normal adult human kidney...
  7. Qian F, Germino F, Cai Y, Zhang X, Somlo S, Germino G. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet. 1997;16:179-83 pubmed
    ..We describe a previously unrecognized coiled-coil domain within the C terminus of the PKD1 gene product, polycystin, and demonstrate that it binds specifically to the C terminus of PKD2...
  8. Bhunia A, Piontek K, Boletta A, Liu L, Qian F, Xu P, et al. PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2. Cell. 2002;109:157-68 pubmed
    ..kidney disease is characterized by cyst formation in the kidney and other organs and results from mutations of PKD1 or PKD2. Previous studies suggest that their gene products have an important role in growth regulation...
  9. Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol. 2011;22:2047-56 pubmed publisher
    Autosomal dominant polycystic kidney disease (ADPKD) is typically a late-onset disease caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early and severe phenotype that can be clinically indistinguishable ..
  10. Ward H, Brown Glaberman U, Wang J, Morita Y, Alper S, Bedrick E, et al. A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1. Mol Biol Cell. 2011;22:3289-305 pubmed publisher
    ..We identify a conserved amino acid sequence, KVHPSST, in the C-terminus of polycystin-1 (PC1) that serves as a ciliary-targeting signal...
  11. Perrichot R, Mercier B, Simon P, Whebe B, Cledes J, Ferec C. DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients. Hum Genet. 1999;105:231-9 pubmed
    ..ADPKD is a genetically heterogeneous disorder involving at least three different genes. PKD1, the major locus mapped to chromosome 16p13.3 accounts for approximately 85% of ADPKD cases...
  12. Hooper K, Boletta A, Germino G, Hu Q, Ziegelstein R, Sutters M. Expression of polycystin-1 enhances endoplasmic reticulum calcium uptake and decreases capacitative calcium entry in ATP-stimulated MDCK cells. Am J Physiol Renal Physiol. 2005;289:F521-30 pubmed
    Autosomal dominant polycystic kidney disease (ADPKD) types 1 and 2 arise as a consequence of mutations in the PKD1 or PKD2 genes, encoding polycystins-1 and -2...
  13. Afzal A, Hand M, Ternes Pereira E, Saggar Malik A, Taylor R, Jeffery S. Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene. Hum Genet. 1999;105:648-53 pubmed
  14. Cornec Le Gall E, Audrezet M, Chen J, Hourmant M, Morin M, Perrichot R, et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013;24:1006-13 pubmed publisher
    ..that renal survival associated with PKD2 mutations was approximately 20 years longer than that associated with PKD1 mutations. The median age at onset of ESRD was 58 years for PKD1 carriers and 79 years for PKD2 carriers...
  15. Manzati E, Aguiari G, Banzi M, Manzati M, Selvatici R, Falzarano S, et al. The cytoplasmic C-terminus of polycystin-1 increases cell proliferation in kidney epithelial cells through serum-activated and Ca(2+)-dependent pathway(s). Exp Cell Res. 2005;304:391-406 pubmed
    Polycystin-1 (PC1) is a large transmembrane protein important in renal differentiation and defective in most cases of autosomal dominant polycystic kidney disease (ADPKD), a common cause of renal failure in adults...
  16. Hoefele J, Mayer K, Scholz M, Klein H. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). Nephrol Dial Transplant. 2011;26:2181-8 pubmed publisher
    ..Mutations in two genes (PKD1 and PKD2) have been identified as causative...
  17. Peral B, Gamble V, Strong C, Ong A, Sloane Stanley J, Zerres K, et al. Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet. 1997;60:1399-410 pubmed
    Mutation screening of the major autosomal dominant polycystic kidney disease gene (PKD1) has been complicated by the large transcript size (> 14 kb) and by reiteration of the genomic area encoding 75% of the protein on the same ..
  18. Qian F, Wei W, Germino G, Oberhauser A. The nanomechanics of polycystin-1 extracellular region. J Biol Chem. 2005;280:40723-30 pubmed
    Recent evidence suggests that polycystin-1 (PC1) acts as a mechanosensor, receiving signals from the primary cilia, neighboring cells, and extracellular matrix and transduces them into cellular responses that regulate proliferation, ..
  19. Peral B, San Millan J, Ong A, Gamble V, Ward C, Strong C, et al. Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am J Hum Genet. 1996;58:86-96 pubmed
    Recently, the gene for the most common form of autosomal dominant polycystic kidney disease (ADPKD), PKD1 (polycystic kidney disease 1), has been fully characterized and shown to encode an integral membrane protein, polycystin, involved ..
  20. . Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium. Cell. 1995;81:289-98 pubmed
    Mutations in the PKD1 gene are the most common cause of autosomal dominant polycystic kidney disease (ADPKD). Other PKD1-like loci on chromosome 16 are approximately 97% identical to PKD1...
  21. Basavanna U, Weber K, Hu Q, Ziegelstein R, Germino G, Sutters M. The isolated polycystin-1 COOH-terminal can activate or block polycystin-1 signaling. Biochem Biophys Res Commun. 2007;359:367-72 pubmed
    ..Our data raise the possibility that the cytoplasmic carboxyl terminus, either through cleavage products or intramolecular interactions, might feed back to modulate the activity of parent or intact polycystin-1. ..
  22. Garcia Gonzalez M, Jones J, Allen S, Palatucci C, Batish S, Seltzer W, et al. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Mol Genet Metab. 2007;92:160-7 pubmed
    ..We noted striking sequence variability in the PKD1 gene, with a mean of 13.1 variants per participant (range 0-60)...
  23. Badenas C, Torra R, San Millan J, Lucero L, Mila M, Estivill X, et al. Mutational analysis within the 3' region of the PKD1 gene. Kidney Int. 1999;55:1225-33 pubmed
    ..At least three different genes are involved in this disease. The search for mutations in PKD1 is complicated because most of the transcript is encoded by a genomic region reiterated more proximally on ..
  24. Phakdeekitcharoen B, Watnick T, Germino G. Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. J Am Soc Nephrol. 2001;12:955-63 pubmed
    The replicated portion of PKD1, which comprises nearly 70% of the length of the gene, is predicted to harbor at least 85% of the mutations present in affected autosomal dominant polycystic kidney disease type 1 pedigrees...
  25. Wilson P. Polycystin: new aspects of structure, function, and regulation. J Am Soc Nephrol. 2001;12:834-45 pubmed
    ..basal membranes of ureteric bud epithelia during early development of the metanephric kidney, and disruption of the PKD1 gene in mice leads to cystic kidneys and embryonic or perinatal death...
  26. Perrichot R, Mercier B, Quere I, Carre A, Simon P, Whebe B, et al. Novel mutations in the duplicated region of PKD1 gene. Eur J Hum Genet. 2000;8:353-9 pubmed
    ..b>PKD1 gene linked mutations are responsible for the disease in about 85% of ADPKD cases...
  27. Boletta A, Qian F, Onuchic L, Bragonzi A, Cortese M, Deen P, et al. Biochemical characterization of bona fide polycystin-1 in vitro and in vivo. Am J Kidney Dis. 2001;38:1421-9 pubmed
    The most common form of autosomal dominant polycystic kidney disease (PKD) results from mutation of the PKD1 gene on chromosome 16p13.3. The gene encodes a 14-kb messenger RNA that is predicted to express a 462-kd membrane protein...
  28. Neumann H, Jilg C, Bacher J, Nabulsi Z, Malinoc A, Hummel B, et al. Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. Nephrol Dial Transplant. 2013;28:1472-87 pubmed publisher
    ..Germline-mutation screening of susceptibility genes PKD1 and PKD2 was offered...
  29. Köttgen M, Benzing T, Simmen T, Tauber R, Buchholz B, Feliciangeli S, et al. Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. EMBO J. 2005;24:705-16 pubmed
    ..Furthermore, PACS proteins may represent a novel molecular mechanism for ion channel trafficking, directing acidic cluster-containing ion channels to distinct subcellular compartments. ..
  30. Lal M, Song X, Pluznick J, Di Giovanni V, Merrick D, Rosenblum N, et al. Polycystin-1 C-terminal tail associates with beta-catenin and inhibits canonical Wnt signaling. Hum Mol Genet. 2008;17:3105-17 pubmed publisher
    Polycystin-1 (PC1), the product of the PKD1 gene mutated in the majority of autosomal dominant polycystic kidney disease (ADPKD) cases, undergoes a cleavage resulting in the intracellular release of its C-terminal tail (CTT)...
  31. Tsiokas L, Kim E, Arnould T, Sukhatme V, Walz G. Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci U S A. 1997;94:6965-70 pubmed
    b>PKD1 and PKD2 are two recently identified genes that are responsible for the vast majority of autosomal polycystic kidney disease, a common inherited disease that causes progressive renal failure...
  32. Rossetti S, Kubly V, Consugar M, Hopp K, Roy S, Horsley S, et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int. 2009;75:848-55 pubmed publisher
    Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in PKD1 is significantly more severe than PKD2. Typically, ADPKD presents in adulthood but is rarely diagnosed in utero with enlarged, echogenic kidneys...
  33. Joly D, Ishibe S, Nickel C, Yu Z, Somlo S, Cantley L. The polycystin 1-C-terminal fragment stimulates ERK-dependent spreading of renal epithelial cells. J Biol Chem. 2006;281:26329-39 pubmed
    b>Polycystin 1, the product of the PKD1 gene, is mutated in autosomal dominant polycystic kidney disease, a disease characterized by renal cyst formation and progressive renal failure...
  34. . The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. Cell. 1994;77:881-94 pubmed
    ..The major locus, PKD1, maps to 16p13.3...
  35. Ibraghimov Beskrovnaya O, Bukanov N, Donohue L, Dackowski W, Klinger K, Landes G. Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1. Hum Mol Genet. 2000;9:1641-9 pubmed
    The 14 kb mRNA of the polycystic kidney disease gene PKD1 encodes a novel large (approximately 460 kDa) protein, polycystin-1, of unknown function that is responsible for autosomal dominant polycystic kidney disease (ADPKD)...
  36. Boletta A, Qian F, Onuchic L, Bhunia A, Phakdeekitcharoen B, Hanaoka K, et al. Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells. Mol Cell. 2000;6:1267-73 pubmed
    The major form of autosomal dominant polycystic kidney disease (ADPKD) results from mutation of a gene (PKD1) of unknown function that is essential for the later stages of renal tubular differentiation...
  37. Geng L, Burrow C, Li H, Wilson P. Modification of the composition of polycystin-1 multiprotein complexes by calcium and tyrosine phosphorylation. Biochim Biophys Acta. 2000;1535:21-35 pubmed
    Mutations in the PKD1 gene are responsible for >85% of autosomal dominant polycystic kidney disease (ADPKD)...
  38. Rossetti S, Strmecki L, Gamble V, Burton S, Sneddon V, Peral B, et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet. 2001;68:46-63 pubmed
    Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region...
  39. Boletta A, Germino G. Role of polycystins in renal tubulogenesis. Trends Cell Biol. 2003;13:484-92 pubmed
    ..Study of PKD proteins will elucidate the process of renal tubular morphogenesis and guide the development of therapies. Here, we focus on insights provided by study of the most common form of PKD, autosomal dominant PKD. ..
  40. Karam M, Lassarre C, Legay C, Ricort J. Phosphatidylinositol 3-kinase and protein kinase D1 specifically cooperate to negatively regulate the insulin-like growth factor signaling pathway. Biochim Biophys Acta. 2012;1823:558-69 pubmed publisher
    ..These EGF- and FGF-inhibitory effects were dependent on both PI 3-kinase and protein kinase D1 (PKD1) signaling pathways but independent on the extracellular signal-regulated kinase (ERK) pathway...
  41. Rossetti S, Burton S, Strmecki L, Pond G, San Millan J, Zerres K, et al. The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrol. 2002;13:1230-7 pubmed
    The severity of renal cystic disease in the major form of autosomal dominant polycystic kidney disease (PKD1) is highly variable...
  42. Neumann H, Bacher J, Nabulsi Z, Ortiz Brüchle N, Hoffmann M, Schaeffner E, et al. Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes. Int Urol Nephrol. 2012;44:1753-62 pubmed publisher
    ..Family history was evaluated regarding ADPKD. Germline mutation screening of the PKD1 and PKD2 genes was performed for intragenic mutations and for large deletions...
  43. Vujic M, Heyer C, Ars E, Hopp K, Markoff A, Orndal C, et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J Am Soc Nephrol. 2010;21:1097-102 pubmed publisher
    Autosomal dominant polycystic kidney disease (ADPKD), caused by mutation in PKD1 or PKD2, is usually an adult-onset disorder but can rarely manifest as a neonatal disease within a family characterized by otherwise typical ADPKD...
  44. Ong A, Harris P. Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int. 2005;67:1234-47 pubmed
    ..Following the identification of the first ADPKD gene, PKD1, 10 years ago and PKD2 2 years later, considerable progress has been made in defining the etiology and ..
  45. Hanaoka K, Qian F, Boletta A, Bhunia A, Piontek K, Tsiokas L, et al. Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Nature. 2000;408:990-4 pubmed
    ..Mutations in either PKD1 or PKD2 are associated with ADPKD but the function of these genes is unknown...
  46. Watnick T, Phakdeekitcharoen B, Johnson A, Gandolph M, Wang M, Briefel G, et al. Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease. Am J Hum Genet. 1999;65:1561-71 pubmed
    ..Until recently, in fact, mutation detection for most of the PKD1 gene was virtually impossible because of the presence of several highly homologous loci also located on chromosome ..
  47. Li X, Luo Y, Starremans P, McNamara C, Pei Y, Zhou J. Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2. Nat Cell Biol. 2005;7:1202-12 pubmed
    ..Id2 expression suppresses the induction of a cyclin-dependent kinase inhibitor, p21, by either polycystin-1 (PC1) or PC2. The PC2-Id2 interaction is regulated by PC1-dependent phosphorylation of PC2...
  48. Thomas R, McConnell R, Whittacker J, Kirkpatrick P, Bradley J, Sandford R. Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. Am J Hum Genet. 1999;65:39-49 pubmed
    We have used long-range PCR to identify mutations in the duplicated part of the PKD1 gene. By means of a PKD1-specific primer in intron 1, an approximately 13...
  49. Qian F, Boletta A, Bhunia A, Xu H, Liu L, Ahrabi A, et al. Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. Proc Natl Acad Sci U S A. 2002;99:16981-6 pubmed
    ..Most of the N-terminal fragment remains tethered at the cell surface, although a small amount is secreted. PKD1-associated mutations in the receptor for egg jelly domain disrupt cleavage, abolish the ability of polycystin-1 to ..
  50. Audrezet M, Cornec Le Gall E, Chen J, Redon S, Quere I, Creff J, et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012;33:1239-50 pubmed publisher
    ..dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder, is caused by mutations in PKD1 or PKD2...
  51. Le N, van der Bent P, Huls G, van de Wetering M, Loghman Adham M, Ong A, et al. Aberrant polycystin-1 expression results in modification of activator protein-1 activity, whereas Wnt signaling remains unaffected. J Biol Chem. 2004;279:27472-81 pubmed
    ..Since our data indicate that aberrant polycystin-1 expression results in altered AP-1 activity, polycystin-1 may be required for adequate AP-1 activity. ..
  52. Roitbak T, Surviladze Z, Tikkanen R, Wandinger Ness A. A polycystin multiprotein complex constitutes a cholesterol-containing signalling microdomain in human kidney epithelia. Biochem J. 2005;392:29-38 pubmed
  53. Parra M, Kasler H, McKinsey T, Olson E, Verdin E. Protein kinase D1 phosphorylates HDAC7 and induces its nuclear export after T-cell receptor activation. J Biol Chem. 2005;280:13762-70 pubmed
    ..Protein kinase D1 (PKD1) was activated after TCR engagement, interacted with HDAC7, and phosphorylated three serines (Ser155, Ser318, and ..
  54. Puri S, Magenheimer B, Maser R, Ryan E, Zien C, Walker D, et al. Polycystin-1 activates the calcineurin/NFAT (nuclear factor of activated T-cells) signaling pathway. J Biol Chem. 2004;279:55455-64 pubmed
    ..has been associated with the functions of polycystin-1 (PC1) and polycystin-2 (PC2), the protein products of the PKD1 and PKD2 genes...
  55. Streets A, Newby L, O Hare M, Bukanov N, Ibraghimov Beskrovnaya O, Ong A. Functional analysis of PKD1 transgenic lines reveals a direct role for polycystin-1 in mediating cell-cell adhesion. J Am Soc Nephrol. 2003;14:1804-15 pubmed
    The PKD1 protein, polycystin-1, is a large transmembrane protein of uncertain function and topology...
  56. Symmons O, Varadi A, Arányi T. How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes. Mol Biol Evol. 2008;25:2601-13 pubmed publisher
    ..We have conducted an in-depth study of a subset of segmental duplications on chromosome 16. We focused on PKD1 and ABCC6 duplications because mutations affecting these genes are responsible for the Mendelian disorders ..
  57. Wei W, Hackmann K, Xu H, Germino G, Qian F. Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene. J Biol Chem. 2007;282:21729-37 pubmed
    Polycystin-1 (PC1), the PKD1 gene product, plays a critical role in renal tubule diameter control and disruption of its function causes cyst formation in human autosomal dominant polycystic kidney disease...
  58. Dequiedt F, Van Lint J, Lecomte E, Van Duppen V, Seufferlein T, Vandenheede J, et al. Phosphorylation of histone deacetylase 7 by protein kinase D mediates T cell receptor-induced Nur77 expression and apoptosis. J Exp Med. 2005;201:793-804 pubmed
    ..These findings indicate that PKD is likely to play a key role in the signaling pathways controlling negative selection. ..
  59. Babich V, Zeng W, Yeh B, Ibraghimov Beskrovnaya O, Cai Y, Somlo S, et al. The N-terminal extracellular domain is required for polycystin-1-dependent channel activity. J Biol Chem. 2004;279:25582-9 pubmed
    ..These results support the hypothesis that polycystin-1 is a surface membrane receptor that transduces the signal via changes in ionic currents. ..
  60. Ward C, Turley H, Ong A, Comley M, Biddolph S, Chetty R, et al. Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. Proc Natl Acad Sci U S A. 1996;93:1524-8 pubmed
    Polycystic kidney disease 1 (PKD1) is the major locus of the common genetic disorder autosomal dominant polycystic kidney disease...
  61. Parnell S, Magenheimer B, Maser R, Zien C, Frischauf A, Calvet J. Polycystin-1 activation of c-Jun N-terminal kinase and AP-1 is mediated by heterotrimeric G proteins. J Biol Chem. 2002;277:19566-72 pubmed
    ..Polycystin-1-mediated AP-1 activity could be significantly augmented by cotransfected Galpha(i), Galpha(q), and Galpha(12/13) subunits, suggesting that polycystin-1 can couple with and activate several heterotrimeric G protein families. ..
  62. Bogdanova N, Markoff A, Gerke V, McCluskey M, Horst J, Dworniczak B. Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes. Genomics. 2001;74:333-41 pubmed
    b>PKD1 is the first gene identified to be causative for the condition of autosomal dominant polycystic kidney disease. There are several genes homologous to PKD1 that are located proximal to the master gene on the same chromosome...
  63. Barua M, Cil O, Paterson A, Wang K, He N, Dicks E, et al. Family history of renal disease severity predicts the mutated gene in ADPKD. J Am Soc Nephrol. 2009;20:1833-8 pubmed publisher
    Mutations of PKD1 and PKD2 account for 85 and 15% of cases of autosomal dominant polycystic kidney disease (ADPKD), respectively. Clinically, PKD1 is more severe than PKD2, with a median age at ESRD of 53.4 versus 72.7 yr...
  64. Torricelli C, Valacchi G, Maioli E. Novel PKCs activate ERK through PKD1 in MCF-7 cells. In Vitro Cell Dev Biol Anim. 2011;47:73-81 pubmed publisher
    ..into cells by the Chariot transfection system, we found that nPKCs activate ERK through transphosphorylation of PKD1, the blockage of which prevented PMA-stimulated ERK activation...
  65. Aguiari G, Savelli S, Garbo M, Bozza A, Augello G, Penolazzi L, et al. Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes. Hum Mutat. 2000;16:444-5 pubmed
    ..The mutated RNA should produce a truncated polycystin 1 at the G binding peptide in the intracellular C-terminal end of the protein...
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    The gene for the most common and severe form of autosomal dominant polycystic kidney disease, PKD1, encodes a 14 kb mRNA that is predicted to result in an integral membrane protein of 4302 amino acids...