PKD1 Gene (Protein Coding)

Polycystin 1, Transient Receptor Potential Channel Interacting

GC16M002170
GIFtS:
46
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 inter... See more...

Aliases for PKD1 Gene

Aliases for PKD1 Gene

  • Polycystin 1, Transient Receptor Potential Channel Interacting 2 3 5
  • Transient Receptor Potential Cation Channel, Subfamily P, Member 1 2 3
  • Autosomal Dominant Polycystic Kidney Disease 1 Protein 3 4
  • Polycystic Kidney Disease 1 (Autosomal Dominant) 2 3
  • Polycystin-1 3 4
  • PC1 3 4
  • Polycystic Kidney Disease-Associated Protein 3
  • Polycystin 1 2
  • TRPP1 3
  • Pc-1 3
  • PBP 3

External Ids for PKD1 Gene

Previous GeneCards Identifiers for PKD1 Gene

  • GC16P016714
  • GC16M002165
  • GC16M002078
  • GC16M002138
  • GC16M002063
  • GC16M002119
  • GC16M002117
  • GC16M002133
  • GC16M002091
  • GC16M002092
  • GC16M002097
  • GC16M002109

Summaries for PKD1 Gene

Entrez Gene Summary for PKD1 Gene

  • 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. [provided by RefSeq, Oct 2008]

GeneCards Summary for PKD1 Gene

PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting) is a Protein Coding gene. Diseases associated with PKD1 include Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease and Autosomal Dominant Polycystic Kidney Disease. Among its related pathways are Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway and Cargo trafficking to the periciliary membrane. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein domain specific binding. An important paralog of this gene is PKD1L1.

UniProtKB/Swiss-Prot Summary for PKD1 Gene

  • Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activity (PubMed:27214281). Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.

Gene Wiki entry for PKD1 Gene

Additional gene information for PKD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PKD1 Gene

Genomics for PKD1 Gene

GeneHancer (GH) Regulatory Elements for PKD1 Gene

Promoters and enhancers for PKD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PKD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PKD1

Top Transcription factor binding sites by QIAGEN in the PKD1 gene promoter:
  • AP-1
  • CREB
  • deltaCREB

Genomic Locations for PKD1 Gene

Genomic Locations for PKD1 Gene
chr16:2,088,708-2,135,898
(GRCh38/hg38)
Size:
47,191 bases
Orientation:
Minus strand
chr16:2,138,711-2,185,899
(GRCh37/hg19)
Size:
47,189 bases
Orientation:
Minus strand

Genomic View for PKD1 Gene

Genes around PKD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PKD1 Gene

Proteins for PKD1 Gene

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  • Protein details for PKD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98161-PKD1_HUMAN
    Recommended name:
    Polycystin-1
    Protein Accession:
    P98161
    Secondary Accessions:
    • Q15140
    • Q15141

    Protein attributes for PKD1 Gene

    Size:
    4303 amino acids
    Molecular mass:
    462529 Da
    Quaternary structure:
    • Interacts with PKD2; the interaction is required for ciliary localization (PubMed:20881056). Component of a heterotetrameric channel complex with PKD2; the tetramer contains one PKD1 chain and three PKD2 chains (PubMed:30093605). Interacts with PKD2L1 (By similarity). Interacts with PRKX; involved in differentiation and controlled morphogenesis of the kidney (PubMed:17980165). Interacts (via extracellular domain) with WNT3A, WNT4, WNT5A and WNT9B (PubMed:27214281). Interacts with DVL1 and DVL2 (PubMed:27214281). Interacts with NPHP1 (via SH3 domain) (PubMed:20856870). Interacts with BBS1, BBS4, BBS5 and TTC8 (PubMed:24939912). Interacts with RGS7 (PubMed:10339594).

    Three dimensional structures from OCA and Proteopedia for PKD1 Gene

    Alternative splice isoforms for PKD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKD1 Gene

Protein Expression for PKD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PKD1 Gene

  • After synthesis, undergoes cleavage between Leu-3048 and Thr-3049 in the GPS domain. Cleavage at the GPS domain occurs through a cis-autoproteolytic mechanism involving an ester-intermediate via N-O acyl rearrangement. This process takes place in the early secretory pathway, depends on initial N-glycosylation, and requires the REJ domain. There is evidence that cleavage at GPS domain is incomplete. Uncleaved and cleaved products may have different functions in vivo.
  • Glycosylation at Asn50, Asn89, Asn116, Asn121, Asn187, Asn621, Asn632, Asn746, Asn810, Asn841, Asn854, Asn890, Asn921, Asn1004, Asn1010, Asn1034, Asn1072, Asn1113, Asn1178, Asn1194, Asn1240, Asn1269, Asn1336, Asn1348, Asn1382, Asn1450, Asn1455, Asn1474, Asn1518, Asn1541, Asn1554, Asn1563, Asn1647, Asn1661, Asn1733, Asn1791, Asn1834, Asn1867, Asn1880, Asn1991, Asn2050, Asn2074, Asn2125, Asn2248, Asn2353, Asn2395, Asn2412, Asn2567, Asn2578, Asn2645, Asn2718, Asn2754, Asn2841, Asn2878, Asn2925, Asn2956, Asn2994, Asn3738, Asn3790, and Asn3845
  • Modification sites at PhosphoSitePlus

Other Protein References for PKD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PKD1 Gene

Domains & Families for PKD1 Gene

Gene Families for PKD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for PKD1 Gene

Blocks:
  • Cysteine-rich flanking region, C-terminal
  • Low density lipoprotein-receptor, class A
  • Cysteine-rich flanking region, N-terminal
  • PKD
  • Carbohydrate-binding WSC
  • PKD/REJ-like protein
  • Polycystic kidney disease type 1 protein (PKD1) signature
  • Rubredoxin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PKD1 Gene

GenScript: Design optimal peptide antigens:
  • Polysystin 1 (C1JFL5_HUMAN)
  • Polysystin 1 (C1JFL6_HUMAN)
  • Polysystin 1 (C1JFL7_HUMAN)
  • PKD1 (O75276_HUMAN)
  • Autosomal dominant polycystic kidney disease 1 protein (PKD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P98161

UniProtKB/Swiss-Prot:

PKD1_HUMAN :
  • The LDL-receptor class A domain is atypical; the potential calcium-binding site is missing.
  • Belongs to the polycystin family.
Domain:
  • The LDL-receptor class A domain is atypical; the potential calcium-binding site is missing.
Family:
  • Belongs to the polycystin family.
genes like me logo Genes that share domains with PKD1: view

Function for PKD1 Gene

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Molecular function for PKD1 Gene

UniProtKB/Swiss-Prot Function:
Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activity (PubMed:27214281). Involved in renal tubulogenesis (PubMed:12482949). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). Acts as a regulator of cilium length, together with PKD2 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling (By similarity). The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.
GENATLAS Biochemistry:
polycystin 1,integral membrane protein with a duplicated portion,involved in cell/matrix interactions,expressed by epithelial renal tubular cells in fetal,ductal epithelia of the liver,pancreas,lung,breast,reproductive organs,modulating WNT signaling during renal development,binding and activating heteromeric G-proteins in vitro,required for the structural integrity of blood vessels,homolog to C elegans lov-1,involved in regulating ion transport

Phenotypes From GWAS Catalog for PKD1 Gene

Gene Ontology (GO) - Molecular Function for PKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity ISS --
GO:0005515 protein binding IEA,IPI 10097141
GO:0019901 protein kinase binding IPI 17980165
GO:0019904 protein domain specific binding IPI 9171830
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with PKD1: view
genes like me logo Genes that share phenotypes with PKD1: view

Human Phenotype Ontology for PKD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PKD1 Gene

MGI Knock Outs for PKD1:

Animal Model Products

CRISPR Products

miRNA for PKD1 Gene

miRTarBase miRNAs that target PKD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PKD1 Gene

Localization for PKD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKD1 Gene

Cell membrane; Multi-pass membrane protein. Cell projection, cilium. Endoplasmic reticulum. Golgi apparatus. Note=PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain. PKD1:PKD2 interaction is required to reach the Golgi apparatus from endoplasmic reticulum and then traffic to the cilia (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). Cell surface localization requires GANAB (PubMed:27259053). {ECO:0000250 UniProtKB:O08852, ECO:0000269 PubMed:27259053}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PKD1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 4
endoplasmic reticulum 4
golgi apparatus 4
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0002133 polycystin complex ISS --
GO:0005623 cell IEA --
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with PKD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PKD1 Gene

Pathways & Interactions for PKD1 Gene

genes like me logo Genes that share pathways with PKD1: view

SIGNOR curated interactions for PKD1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001502 cartilage condensation IEA --
GO:0001568 blood vessel development IEA --
GO:0001701 in utero embryonic development ISS --
GO:0001822 kidney development ISS,IEA --
GO:0001889 liver development IEA --
genes like me logo Genes that share ontologies with PKD1: view

Drugs & Compounds for PKD1 Gene

Products:

  1. Drug

(12) Drugs for PKD1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884

(10) Additional Compounds for PKD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PKD1: view

Transcripts for PKD1 Gene

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mRNA/cDNA for PKD1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
40 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PKD1

Alternative Splicing Database (ASD) splice patterns (SP) for PKD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ·
SP1:
SP2:
SP3:
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SP5:
SP6:
SP7:
SP8:
SP9: - - - - - -
SP10: -
SP11:
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SP13:
SP14:
SP15:
SP16: - - - - - - - - -
SP17:
SP18:
SP19:
SP20: -
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:

ExUns: 19d ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30a · 30b · 30c · 30d ^ 31a · 31b ^ 32a · 32b ^ 33a · 33b ^
SP1:
SP2:
SP3:
SP4: - -
SP5: - -
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:

ExUns: 34a · 34b · 34c ^ 35a · 35b · 35c · 35d ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b · 39c ^ 40a · 40b ^ 41
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26: - -

Relevant External Links for PKD1 Gene

GeneLoc Exon Structure for
PKD1

Expression for PKD1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PKD1 Gene

mRNA expression in normal human tissues for PKD1 Gene
mRNA expression by GTEx for PKD1 GenemRNA expression by BioGPS for PKD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKD1 Gene

This gene is overexpressed in Brain - Cerebellum (x7.0) and Brain - Cerebellar Hemisphere (x6.2).

Protein differential expression in normal tissues from HIPED for PKD1 Gene

This gene is overexpressed in Retina (10.1), Plasma (7.4), Bone marrow mesenchymal stem cell (6.6), and Stomach (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PKD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PKD1

SOURCE GeneReport for Unigene cluster for PKD1 Gene:

Hs.75813

Evidence on tissue expression from TISSUES for PKD1 Gene

  • Nervous system(4.5)
  • Kidney(3.2)
  • Liver(2.8)
  • Muscle(2.7)
  • Heart(2.4)
  • Lung(2.1)
  • Intestine(2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PKD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
Pelvis:
  • ureter
  • urinary bladder
General:
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with PKD1: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PKD1 Gene

Orthologs for PKD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PKD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia PKD1 31 30
  • 83.32 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PKD1 31 30
  • 83.09 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Pkd1 30
  • 78.74 (n)
mouse
(Mus musculus)
 Mammalia Pkd1 17 31 30
  • 78.7 (n)
oppossum
(Monodelphis domestica)
 Mammalia PKD1 31
  • 67 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia PKD1 31
  • 67 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 63 (a)
 OneToMany
-- 31
  • 59 (a)
 OneToMany
-- 31
  • 46 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves PKD1 31 30
  • 61.46 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PKD1 31
  • 55 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pkd1 30
  • 56.13 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC100149562 30
  • 51.93 (n)
PKD1 31
  • 39 (a)
 OneToOne
Species where no ortholog for PKD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PKD1 Gene

ENSEMBL:
Gene Tree for PKD1 (if available)
TreeFam:
Gene Tree for PKD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PKD1: view image

Paralogs for PKD1 Gene

Paralogs for PKD1 Gene

(1) SIMAP similar genes for PKD1 Gene using alignment to 13 proteins:

  • PKD1_HUMAN
  • C1JFL5_HUMAN
  • C1JFL6_HUMAN
  • C1JFL7_HUMAN
  • H3BQF4_HUMAN
  • H3BSE8_HUMAN
  • H3BSE9_HUMAN
  • H3BTE0_HUMAN
  • H3BTG3_HUMAN
  • H3BV77_HUMAN
  • I3L4N0_HUMAN
  • O75276_HUMAN
  • Q15142_HUMAN

Pseudogenes.org Pseudogenes for PKD1 Gene

genes like me logo Genes that share paralogs with PKD1: view

Variants for PKD1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PKD1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
618314 Uncertain Significance: not provided 2,114,237(-) TCCG/T INFRAME_DELETION
635437 Pathogenic: Polycystic kidney disease, adult type 2,111,685(-) C/T NONSENSE
635438 Pathogenic: Polycystic kidney disease, adult type 2,092,953(-) C/G SPLICE_DONOR_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
635485 Uncertain Significance: Polycystic kidney disease, adult type 2,100,267(-) T/G MISSENSE_VARIANT
635486 Uncertain Significance: Polycystic kidney disease, adult type 2,099,760(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PKD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PKD1 Gene

Variant ID Type Subtype PubMed ID
dgv4859n54 CNV loss 21841781
dgv4861n54 CNV loss 21841781
dgv4862n54 CNV loss 21841781
esv1009851 CNV loss 20482838
esv2422427 CNV duplication 17116639
esv26637 CNV loss 19812545
esv26918 CNV gain+loss 19812545
nsv1052260 CNV gain 25217958
nsv1070313 CNV deletion 25765185
nsv1070735 CNV deletion 25765185
nsv1071250 CNV deletion 25765185
nsv1126412 CNV deletion 24896259
nsv1131102 CNV deletion 24896259
nsv1144751 CNV deletion 24896259
nsv1150082 CNV duplication 26484159
nsv1160329 CNV deletion 26073780
nsv1709 CNV insertion 18451855
nsv457349 CNV loss 19166990
nsv471072 CNV loss 18288195
nsv471381 CNV gain 19718026
nsv482186 CNV gain 20164927
nsv499604 CNV gain 21111241
nsv571190 CNV loss 21841781
nsv571196 CNV loss 21841781
nsv571197 CNV gain 21841781
nsv820654 CNV deletion 20802225
nsv827505 CNV gain 20364138
nsv827506 CNV gain 20364138
nsv827507 CNV gain 20364138
nsv9331 CNV gain 18304495
nsv9332 CNV loss 18304495
nsv952901 CNV deletion 24416366
nsv984250 CNV duplication 23825009

Variation tolerance for PKD1 Gene

Residual Variation Intolerance Score: 99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.51; 91.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PKD1 Gene

Human Gene Mutation Database (HGMD)
PKD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKD1 Gene

Disorders for PKD1 Gene

MalaCards: The human disease database

(45) MalaCards diseases for PKD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PKD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PKD1_HUMAN
  • Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]: An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. {ECO:0000269 PubMed:10200984, ECO:0000269 PubMed:10364515, ECO:0000269 PubMed:10577909, ECO:0000269 PubMed:10647901, ECO:0000269 PubMed:10729710, ECO:0000269 PubMed:10854095, ECO:0000269 PubMed:10923040, ECO:0000269 PubMed:10987650, ECO:0000269 PubMed:11012875, ECO:0000269 PubMed:11058904, ECO:0000269 PubMed:11115377, ECO:0000269 PubMed:11216660, ECO:0000269 PubMed:11316854, ECO:0000269 PubMed:11558899, ECO:0000269 PubMed:11571556, ECO:0000269 PubMed:11691639, ECO:0000269 PubMed:11773467, ECO:0000269 PubMed:11857740, ECO:0000269 PubMed:11967008, ECO:0000269 PubMed:12007219, ECO:0000269 PubMed:12070253, ECO:0000269 PubMed:12220456, ECO:0000269 PubMed:12482949, ECO:0000269 PubMed:12842373, ECO:0000269 PubMed:15772804, ECO:0000269 PubMed:18837007, ECO:0000269 PubMed:21115670, ECO:0000269 PubMed:22508176, ECO:0000269 PubMed:8554072, ECO:0000269 PubMed:9199561, ECO:0000269 PubMed:9259200, ECO:0000269 PubMed:9285784, ECO:0000269 PubMed:9521593, ECO:0000269 PubMed:9921908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PKD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for PKD1 Gene

Publications for PKD1 Gene

  1. Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. (PMID: 12220456) Eo HS … Kim UK (Clinical genetics 2002) 3 4 23 41 54
  2. Structural and molecular basis of the assembly of the TRPP2/PKD1 complex. (PMID: 19556541) Yu Y … Yang J (Proceedings of the National Academy of Sciences of the United States of America 2009) 2 3 23 54
  3. Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency. (PMID: 17980165) Li X … Wilson PD (Biochimica et biophysica acta 2008) 3 4 23 54
  4. Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. (PMID: 11571556) Bouba I … Deltas CC (European journal of human genetics : EJHG 2001) 3 4 23 54
  5. Thirteen novel mutations of the replicated region of PKD1 in an Asian population. (PMID: 11012875) Phakdeekitcharoen B … Germino GG (Kidney international 2000) 3 4 23 54

ExternalLinks

View latest publications for PKD1 gene in Mastermind

Products for PKD1 Gene

  • Addgene plasmids for PKD1
  • Signalway ELISA kits for PKD1
  • Signalway Proteins for PKD1

Sources for PKD1 Gene