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

Gene: LOC105371049

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs1555447011 in PKD1;LOC105371049 gene and Dysmorphic features 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 18945943 2009 Unified criteria for ultrasonographic diagnosis of ADPKD.

PMID 20558538 2010 Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

PMID 17035604 2006 Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease.

PMID 26364947 2015 Autosomal dominant polycystic kidney disease.

PMID 11156533 2001 Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.

PMID 19346236 2009 Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks.

PMID 18215695 2008 Variation in age at ESRD in autosomal dominant polycystic kidney disease.

PMID 15677307 2005 Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease.

PMID 10411677 1999 Familial phenotype differences in PKD11.

PMID 11752048 2002 Management of cerebral aneurysms in autosomal dominant polycystic kidney disease.

PMID 12842373 2003 Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

rs1057516041 in PKD1;LOC105371049 gene and Multiple renal cysts PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516041 in PKD1;LOC105371049 gene and POLYCYSTIC KIDNEY DISEASE 1 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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