Gene: PKD1

Alternate names for this Gene: PBP|PC1|Pc-1|TRPP1

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: polycystin 1, transient receptor potential channel interacting

Type of Gene: protein-coding

rs1222094213 in PKD1 gene and Autosomal Recessive Polycystic Kidney Disease PMID 24374109 2014 Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

PMID 17582161 2007 Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

PMID 17574468 2007 Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

PMID 22508176 2012 Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

PMID 22031115 2012 A missense mutation in PKD1 attenuates the severity of renal disease.

PMID 21551026 2011 Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease.

rs147829960 in PKD1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs116092985 in PKD1 gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs1358566538 in PKD1 gene and POLYCYSTIC KIDNEY DISEASE 1 PMID 11558899 2001 Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.

PMID 9259200 1997 Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.

PMID 12482949 2002 Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

PMID 8554072 1996 Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PMID 11571556 2001 Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

PMID 11857740 2002 Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.

PMID 9521593 1998 Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

PMID 10987650 1999 DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.

PMID 11216660 2000 Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.

PMID 11967008 2002 A complete mutation screen of the ADPKD genes by DHPLC.

PMID 12220456 2002 Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 11012875 2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

PMID 12070253 2002 Mutation screening of the PKD1 transcript by RT-PCR.

PMID 12007219 2002 Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.

PMID 10577909 1999 Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.

PMID 10200984 1999 Mutational analysis within the 3' region of the PKD1 gene.

PMID 10729710 2000 Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.

PMID 10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PMID 10647901 1999 Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.

PMID 23064367 2012 Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

PMID 19165178 2009 Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

PMID 26139440 2016 Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

rs1616940 in PKD1 gene and POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE PMID 25333066 2014 Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

PMID 22383692 2012 Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

PMID 10364515 1999 Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

PMID 15772804 2005 Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

rs13333747 in PKD1 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs35929659 in PKD1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.