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Polycystic Kidney Disease 1 Protein (PKD1)

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PBP; Pc-1; TRPP1; Polycystin-1; Transient Receptor Potential Cation Channel,Subfamily P,Member 1; Autosomal dominant polycystic kidney disease 1 protein

Polycystic Kidney Disease 1 Protein (PKD1)
CCC C726
HGNC 9008
MGI 97603
PubMed 11106764
RGD 3333
UniProt P98161
Wiki PKD1
Polycystin-1 is 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 may function as an integral membrane protein involved in cell-cell/matrix interactions, and may modulate intracellular calcium homoeostasis and other signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene have been associated with autosomal dominant polycystic kidney disease. 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC726Hu01 Recombinant Polycystic Kidney Disease 1 Protein (PKD1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Polycystic Kidney Disease 1 Protein (PKD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Polycystic Kidney Disease 1 Protein (PKD1) Polyclonal Antibody Customized Service Offer
Assay Kits SEC726Hu ELISA Kit for Polycystic Kidney Disease 1 Protein (PKD1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Polycystic Kidney Disease 1 Protein (PKD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Polycystic Kidney Disease 1 Protein (PKD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Polycystic Kidney Disease 1 Protein (PKD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Polycystic Kidney Disease 1 Protein (PKD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Polycystic Kidney Disease 1 Protein (PKD1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Polycystic Kidney Disease 1 Protein (PKD1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Polycystic Kidney Disease 1 Protein (PKD1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Polycystic Kidney Disease 1 Protein (PKD1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Polycystic Kidney Disease 1 Protein (PKD1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Polycystic Kidney Disease 1 Protein (PKD1) ELISA Kit Customized Service Offer
  1. "Polycystic kidney disease: the complete structure of the PKD1 gene and its protein." Cell 81:289-298(1995) [PubMed] [Europe PMC] [Abstract]
  2. "The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains."Nat. Genet. 10:151-160(1995) [PubMed] [Europe PMC] [Abstract]
  3. "The sequence and analysis of duplication-rich human chromosome 16." Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16." Cell 77:881-894(1994) [PubMed] [Europe PMC] [Abstract]
  5. Erratum Cell 78:725-725(1994) [PubMed] [Europe PMC] [Abstract]
  6. "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. 99:16981-16986(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene."J. Biol. Chem. 282:21729-21737(2007) [PubMed] [Europe PMC] [Abstract]
  8. "Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency."Biochim. Biophys. Acta 1782:1-9(2008) [PubMed] [Europe PMC] [Abstract]
  9. "Polycystin-1 surface localization is stimulated by polycystin-2 and cleavage at the G protein-coupled receptor proteolytic site."Mol. Biol. Cell 21:4338-4348(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals."PLoS ONE 5:E12719-E12719(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein."Hum. Mol. Genet. 23:5441-5451(2014) [PubMed] [Europe PMC] [Abstract]
  12. "The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease."EMBO J. 18:297-305(1999) [PubMed] [Europe PMC] [Abstract]
  13. "Polycystin channels and kidney disease."Trends Pharmacol. Sci. 22:543-546(2001) [PubMed] [Europe PMC] [Abstract]
  14. "Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations."Am. J. Hum. Genet. 58:86-96(1996) [PubMed] [Europe PMC] [Abstract]
  15. "Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach."Am. J. Hum. Genet. 60:1399-1410(1997) [PubMed] [Europe PMC] [Abstract]
  16. "New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles."Hum. Genet. 99:644-647(1997) [PubMed] [Europe PMC] [Abstract]
  17. "An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection."Hum. Mol. Genet. 6:1473-1481(1997) [PubMed] [Europe PMC] [Abstract]
  18. "Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease."Hum. Mutat. 10:164-167(1997) [PubMed] [Europe PMC] [Abstract]
  19. "Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene."Hum. Genet. 102:216-220(1998) [PubMed] [Europe PMC] [Abstract]
  20. "Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1."Hum. Genet. 103:709-717(1998) [PubMed] [Europe PMC] [Abstract]
  21. "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. 65:39-49(1999) [PubMed] [Europe PMC] [Abstract]
  22. "Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease."Am. J. Hum. Genet. 65:1561-1571(1999) [PubMed] [Europe PMC] [Abstract]
  23. "DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients."Hum. Genet. 105:231-239(1999) [PubMed] [Europe PMC] [Abstract]
  24. "Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene."Hum. Genet. 105:648-653(1999) [PubMed] [Europe PMC] [Abstract]
  25. "Mutational analysis within the 3' region of the PKD1 gene."Kidney Int. 55:1225-1233(1999) [PubMed] [Europe PMC] [Abstract]
  26. "Novel mutations in the duplicated region of PKD1 gene."Eur. J. Hum. Genet. 8:353-359(2000) [PubMed] [Europe PMC] [Abstract]
  27. "Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion."Genet. Test. 4:365-370(2000) [PubMed] [Europe PMC] [Abstract]
  28. "Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families."Hum. Mutat. 16:176-176(2000) [PubMed] [Europe PMC] [Abstract]
  29. "Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes."Hum. Mutat. 16:444-445(2000) [PubMed] [Europe PMC] [Abstract]
  30. "Thirteen novel mutations of the replicated region of PKD1 in an Asian population."Kidney Int. 58:1400-1412(2000) [PubMed] [Europe PMC] [Abstract]
  31. "Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease."Mutat. Res. 432:39-45(2000) [PubMed] [Europe PMC] [Abstract]
  32. "Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications."Am. J. Hum. Genet. 68:46-63(2001) [PubMed] [Europe PMC] [Abstract]
  33. "Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families."Eur. J. Hum. Genet. 9:677-684(2001) [PubMed] [Europe PMC] [Abstract]
  34. "Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples."J. Am. Soc. Nephrol. 12:955-963(2001) [PubMed] [Europe PMC] [Abstract]
  35. "Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family."J. Hum. Genet. 46:511-517(2001) [PubMed] [Europe PMC] [Abstract]
  36. "Mutational analysis within the 3' region of the PKD1 gene in Japanese families."Mutat. Res. 458:77-84(2001) [PubMed] [Europe PMC] [Abstract]
  37. "Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease."Clin. Genet. 62:169-174(2002) [PubMed] [Europe PMC] [Abstract]
  38. "Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families."Hum. Mutat. 19:240-250(2002) [PubMed] [Europe PMC] [Abstract]
  39. "Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients."Hum. Mutat. 19:622-628(2002) [PubMed] [Europe PMC] [Abstract]
  40. "Mutation screening of the PKD1 transcript by RT-PCR."J. Med. Genet. 39:422-429(2002) [PubMed] [Europe PMC] [Abstract]
  41. "A complete mutation screen of the ADPKD genes by DHPLC."Kidney Int. 61:1588-1599(2002) [PubMed] [Europe PMC] [Abstract]
  42. "Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease."Nephrol. Dial. Transplant. 17:75-80(2002) [PubMed] [Europe PMC] [Abstract]
  43. "Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype."Lancet 361:2196-2201(2003) [PubMed] [Europe PMC] [Abstract]
  44. "Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns."J. Mol. Med. 83:638-646(2005) [PubMed] [Europe PMC] [Abstract]
  45. "Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease."Hum. Mutat. 30:264-273(2009) [PubMed] [Europe PMC] [Abstract]
  46. "Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD)."Nephrol. Dial. Transplant. 26:2181-2188(2011) [PubMed] [Europe PMC] [Abstract]
  47. "Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients."Hum. Mutat. 33:1239-1250(2012) [PubMed] [Europe PMC] [Abstract]