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PKD1 Gene

protein-coding   GIFtS: 66
GCID: GC16M002138

Polycystic Kidney Disease 1 (Autosomal Dominant)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polycystic Kidney Disease 1 (Autosomal Dominant)1 2     PBP2
Polycystin 11 2     Pc-12
Autosomal Dominant Polycystic Kidney Disease 1 Protein2 3     TRPP12
Member 11     Polycystic Kidney Disease-Associated Protein2
Subfamily P1     polycystin-12
Transient Receptor Potential Cation Channel1     Transient Receptor Potential Cation Channel, Subfamily P, Member 12

External Ids:    HGNC: 90081   Entrez Gene: 53102   Ensembl: ENSG000000087107   OMIM: 6013135   UniProtKB: P981613   

Export aliases for PKD1 gene to outside databases

Previous GC identifers: GC16P016714 GC16M002165 GC16M002078 GC16M002063


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (polycystic kidney disease 1 (autosomal dominant)) is a protein-coding gene. Diseases associated with PKD1 include polycystic kidney disease, type 1, and polycystic kidney disease, adult type i. GO annotations related to this gene include carbohydrate binding and protein kinase binding. An important paralog of this gene is PKD2.

UniProtKB/Swiss-Prot: PKD1_HUMAN, P98161
Function: Involved in renal tubulogenesis. Involved in fluid-flow mechanosensation by the primary cilium in renal
epithelium. Acts as a regulator of cilium length, together with PKD2. The dynamic control of cilium length is
essential in the regulation of mechanotransductive signaling. 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PKD1 gene promoter:
         CREB   AP-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PKD1 promoter sequence
   Search Chromatin IP Primers for PKD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PKD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

PKD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKD1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M002138:  view genomic region     (about GC identifiers)

Start:
2,138,711 bp from pter      End:
2,185,899 bp from pter
Size:
47,189 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PKD1_HUMAN, P98161 (See protein sequence)
Recommended Name: Polycystin-1 precursor  
Size: 4303 amino acids; 462529 Da
Subunit: Interacts with PKD2 and PKD2L1. Interacts with PRKX; involved in differentiation and controlled
morphogenesis of the kidney. Interacts with NPHP1 (via SH3 domain)
Caution: Variant Cys-2379 has been originally described as a benign polymorphism (PubMed:10854095). However, it is
a likely pathogenic mutation (PubMed:PubMed:22508176)
1 PDB 3D structure from and Proteopedia for PKD1:
1B4R (3D)    
Secondary accessions: Q15140 Q15141
Alternative splicing: 3 isoforms:  P98161-1   P98161-2   P98161-3   

Explore the universe of human proteins at neXtProt for PKD1: NX_P98161

Explore proteomics data for PKD1 at MOPED

Post-translational modifications: 

  • 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 vivo1
  • Glycosylation2 at Asn50, Asn89, Asn116, Asn121, Asn187, Asn621, Asn632, Asn746, Asn810, Asn841,
                                 Asn854, Asn890, Asn921, Asn1004, Asn1010, Asn1034, Asn1072, Asn1113, Asn1178, Asn1194 (see all 60)
  • Modification sites at PhosphoSitePlus

  • See PKD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000287.3  NP_001009944.2  

    ENSEMBL proteins: 
     ENSP00000262304   ENSP00000399501   ENSP00000461391   ENSP00000457132   ENSP00000455753  
     ENSP00000457984   ENSP00000457162   ENSP00000456670   ENSP00000456672  

    PKD1 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PKD1

    PKD1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PKD1
    R&D Systems Antibodies for PKD1 (Polycystin-1/PKD1)
    OriGene Antibodies for PKD1
    OriGene Custom Antibody Services for PKD1
    Novus Biologicals PKD1 Antibodies
    Abcam antibodies for PKD1
    Cloud-Clone Corp. Antibodies for PKD1
    ThermoFisher Antibodies for PKD1
    LSBio Antibodies in human, mouse, rat for PKD1

    PKD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PKD1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PKD1
    Cloud-Clone Corp. CLIAs for PKD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TRP: Voltage-gated ion channels / Transient receptor potential cation channels

    Selected InterPro protein domains (see all 19):
     IPR002859 PKD/REJ-like
     IPR000483 Cys-rich_flank_reg_C
     IPR000601 PKD_dom
     IPR001611 Leu-rich_rpt
     IPR002889 WSC_carb-bd

    Graphical View of Domain Structure for InterPro Entry P98161

    ProtoNet protein and cluster: P98161

    Selected Blocks protein domains (see all 8):
    IPB000372 Cysteine-rich flanking region
    IPB000434 Polycystic kidney disease type 1 protein (PKD1) signature
    IPB000483 Cysteine-rich flanking region
    IPB000601 PKD
    IPB001052 Rubredoxin


    UniProtKB/Swiss-Prot: PKD1_HUMAN, P98161
    Domain: The LDL-receptor class A domain is atypical; the potential calcium-binding site is missing
    Similarity: Belongs to the polycystin family
    Similarity: Contains 1 C-type lectin domain
    Similarity: Contains 1 GPS domain
    Similarity: Contains 1 LDL-receptor class A domain
    Similarity: Contains 2 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain
    Similarity: Contains 1 LRRNT domain
    Similarity: Contains 17 PKD domains
    Similarity: Contains 1 PLAT domain
    Similarity: Contains 1 REJ domain
    Similarity: Contains 1 WSC domain


    PKD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKD1_HUMAN, P98161
    Function: Involved in renal tubulogenesis. Involved in fluid-flow mechanosensation by the primary cilium in renal
    epithelium. Acts as a regulator of cilium length, together with PKD2. The dynamic control of cilium length is
    essential in the regulation of mechanotransductive signaling. 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 entry for PKD1:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005261cation channel activity ISS--
    GO:0005262calcium channel activity IBA--
    GO:0005515protein binding IPI15563610
    GO:0019901protein kinase binding IPI17980165
    GO:0019904protein domain specific binding IPI9171830
         
    PKD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PKD1:
     Decreased focal adhesion (FA)  

         Selected MGI mutant phenotypes (inferred from 30 alleles(MGI details for Pkd1) (see all 23):
     adipose tissue  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    PKD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PKD1: Pkd1tm2.1Ggg Pkd1tm1Jzh Pkd1tm1Maa Pkd1tm1.2Djmp Pkd1tm2.2Bol Pkd1tm1.2Bol
                                                         Pkd1tm1Shh Pkd1tm2.1Som Pkd1tm3.2Bol Pkd1tm2Jzh Pkd1tm3.1Jzh Pkd1tm1Ggg Pkd1tm1Som

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PKD1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PKD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PKD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PKD1:
    hsa-mir-324-5p (MIRT043090), hsa-mir-615-3p (MIRT040353), hsa-mir-484 (MIRT041636)

    Block miRNA regulation of human, mouse, rat PKD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PKD1 (see all 33):
    hsa-miR-3194-5p hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-106a hsa-miR-372 hsa-miR-93 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidPKD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PKD1
    Predesigned siRNA for gene silencing in human, mouse, rat PKD1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): PKD1 (NM_000296)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PKD1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKD1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PKD1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PKD1_HUMAN, P98161: Membrane; Multi-pass membrane protein. Cell projection, cilium (By similarity). 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus3
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    extracellular2
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002133polycystin complex ISS--
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane IDA--

    PKD1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PKD1 About    
    See pathways by source

    SuperPathContained pathways About
    1Calcium channels
    Calcium channels

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PKD1
        Phospholipase-C Pathway


        Pathway & Disease-focused RT2 Profiler PCR Arrays including PKD1: 
              Cell Cycle in human mouse rat
              Primary Cilia in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PKD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PKD1 (P981611, 2, 3 ENSP000002623044) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PKD2Q135631, 2, 3, ENSP000002375964EBI-1752013,EBI-7813714 MINT-7895347 MINT-7895311 MINT-7895557 MINT-7895283 MINT-7895327 MINT-7895498 MINT-7895375 I2D: score=7 STRING: ENSP00000237596
    NPHP1O152591, 2, 3, ENSP000003131694EBI-1752013,EBI-953828 MINT-8109642 MINT-8109661 I2D: score=1 STRING: ENSP00000313169
    ABL1P005192, 3, ENSP000003614234MINT-8110647 I2D: score=3 STRING: ENSP00000361423
    FYNP062412, 3, ENSP000003576564MINT-8111439 I2D: score=3 STRING: ENSP00000357656
    ATF7IPQ6VMQ62, 3MINT-61896 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 44):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001502cartilage condensation IEA--
    GO:0001568blood vessel development ----
    GO:0001701in utero embryonic development ISS--
    GO:0001822kidney development ISS--
    GO:0001889liver development IEA--

    PKD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PKD1

    1 HMDB Compound for PKD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for PKD1 gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trp-p-2 75.2 5 18273441 (1), 19879844 (1), 15971078 (1), 19556541 (1) (see all 5)
    penicillin 47.5 23 12051565 (4), 12196546 (1), 12845845 (1), 8769609 (1) (see all 12)
    threonine 43.2 9 17077180 (1), 19173301 (1), 19243594 (1), 19258390 (1) (see all 8)
    beta-lactam 39.7 3 16303769 (1), 14691653 (1), 2230238 (1)
    calcium 33.6 23 18285569 (3), 9326320 (1), 9192675 (1), 18422703 (1) (see all 13)
    serine 30.8 13 17077180 (1), 19173301 (1), 15695390 (1), 19243594 (1) (see all 12)
    vidarabine 24.3 1 9773786 (1)
    rapamycin 22.8 1 18845692 (1)
    pkcs 19.9 3 12689594 (2), 15590638 (1)
    pneumococcal 13.3 1 20194703 (1)



    PKD1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PKD1 gene (2 alternative transcripts): 
    NM_000296.3  NM_001009944.2  

    Unigene Cluster for PKD1:

    Polycystic kidney disease 1 (autosomal dominant)
    Hs.75813  [show with all ESTs]
    Unigene Representative Sequence: NM_001009944
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 40):
    ENST00000262304(uc002cos.1) ENST00000423118(uc010bse.1 uc002cot.1)
    ENST00000472577 ENST00000564313 ENST00000561668 ENST00000487932 ENST00000485120
    ENST00000562425 ENST00000567355 ENST00000472659 ENST00000568796 ENST00000570253
    ENST00000562297 ENST00000567946 ENST00000486339 ENST00000415938 ENST00000483731
    ENST00000566905
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PKD1 (see all 33):
    hsa-miR-3194-5p hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-106a hsa-miR-372 hsa-miR-93 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidPKD1 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): PKD1 (NM_000296)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PKD1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PKD1
      QuantiTect SYBR Green Assays in human, mouse, rat PKD1
      QuantiFast Probe-based Assays in human, mouse, rat PKD1

    Additional mRNA sequence: 

    AB209025.1 AB209675.1 AK309422.1 L33243.1 U24497.1 

    21 DOTS entries:

    DT.70104277  DT.87077312  DT.91644432  DT.86858932  DT.97760273  DT.100059201  DT.120674876  DT.100892089 
    DT.120674921  DT.120674969  DT.120674995  DT.120675018  DT.91864894  DT.95283226  DT.100892088  DT.100892094 
    DT.120705612  DT.120705686  DT.91718243  DT.91733091  DT.92360713 

    Selected AceView cDNA sequences (see all 33):

    NM_000296 CR590016 L33243 CR613181 AI140269 BF847876 CD608089 AA831732 
    AW192878 BI825250 U24497 AI199962 CD608091 AI660209 AI192483 BF928319 
    CD608087 BF058936 CD608085 AI188663 AW090455 AL134818 BF081888 BF058046 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PKD1 (see all 26)    About this scheme

    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:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    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:                                                                                                                                -           -               

    ExUns: 34a · 34b · 34c ^ 35a · 35b · 35c · 35d ^ 36a · 36b ^ 37 ^ 38 ^ 39a · 39b · 39c ^ 40a · 40b ^ 41
    SP1:                                                                                                      
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for PKD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PKD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCGCTTCTA
    PKD1 Expression
    About this image


    PKD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Chondrocytes Synchondroses
             Stylopod Long Bone
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Chondrocytes Synchondroses
     
     Kidney (Urinary System)
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             Ureter
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
    PKD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PKD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75813
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PKD1: 
              Cell Cycle in human mouse rat
              Primary Cilia in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PKD1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pkd11 , 5 polycystic kidney disease 1 homolog1, 5 78.7(n)1
    78.6(a)1
      17 (12.40 cM)5
    187631  NM_013630.21  NP_038658.21 
     245499505 
    chicken
    (Gallus gallus)
    Aves PKD11 polycystic kidney disease 1 (autosomal dominant) 61.46(n)
    56.15(a)
      416553  XM_414854.4  XP_414854.4 
    lizard
    (Anolis carolinensis)
    Reptilia PKD16
    polycystic kidney disease 1 (autosomal dominant)
    55(a)
    1 ↔ 1
    AAWZ02038689(715-4378)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pkd11 polycystic kidney disease 1 (autosomal dominant) 56.13(n)
    49.17(a)
      100494429  XM_002932471.2  XP_002932517.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001495621 polycystin-1-like 51.93(n)
    42.82(a)
      100149562  XM_003197739.2  XP_003197787.2 


    ENSEMBL Gene Tree for PKD1 (if available)
    TreeFam Gene Tree for PKD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PKD1 gene
    PKD22  PKDREJ2  PKD2L22  PKD1L22  PKD2L12  PKD1L12  
    1 SIMAP similar gene for PKD1 using alignment to 13 protein entries:     PKD1_HUMAN (see all proteins):
    NPIP

    PKD1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for PKD1 (see all 8)
    PGOHUM00000248733 PGOHUM00000262927 PGOHUM00000259017 PGOHUM00000248747 PGOHUM00000248991


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PKD1 (see all 2303)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs790003401,2,,4
    C,FPolycystic kidney disease 1 (PKD1)4 --2143955(+) GAGCCC/TGTGGG 4 R G mis12Minor allele frequency- T:0.02EA 298
    rs454787941,2,,4
    C,FPolycystic kidney disease 1 (PKD1)4 --2144182(+) CCAGCG/ATCTCT 4 /T /M mis17Minor allele frequency- A:0.01NA EA EU 5267
    rs770289721,2,,4
    C,FPolycystic kidney disease 1 (PKD1)4 --2152387(+) AGGAAA/GCACAA 4 L F mis11Minor allele frequency- G:0.17EU 730
    rs99367851,2,,4
    C,FPolycystic kidney disease 1 (PKD1)4 --2155426(+) CTCGGT/CGCTGC 4 /H /R mis13Minor allele frequency- C:0.01NA EU 1109
    rs1408699921,2,,4
    CPolycystic kidney disease 1 (PKD1)4 --2158570(+) TGGGCA/GCCCCG 4 R C mis10--------
    rs1436903921,2,,4
    C,FPolycystic kidney disease 1 (PKD1)4 --2161150(+) CCCCCG/ACACGG 4 /R /W mis12Minor allele frequency- A:0.00NA EU 4925
    rs25496771,2,,4
    C,F,HPolycystic kidney disease 1 (PKD1)4 --2162361(-) TGTCAT/CGCACA 4 /T /M mis17Minor allele frequency- C:0.20NA MN CSA WA EU 920
    VAR_0138384
    Polycystic kidney disease 1 (PKD1)4--see VAR_0138382 R H mis40--------
    VAR_0643834
    Polycystic kidney disease 1 (PKD1)4--see VAR_0643832 L P mis40--------
    VAR_0588194
    Polycystic kidney disease 1 (PKD1)4--see VAR_0588192 P S mis40--------

    HapMap Linkage Disequilibrium report for PKD1 (2138711 - 2185899 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PKD1 (see all 33):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820654CNV Deletion20802225
    nsv471381CNV Duplication19718026
    esv2422427CNV Duplication17116639
    nsv1709CNV Insertion18451855
    dgv2562n71CNV Loss21882294
    dgv2545n71CNV Loss21882294
    dgv2546n71CNV Loss21882294
    esv26637CNV Loss19812545
    dgv2540n71CNV Loss21882294
    nsv905102CNV Loss21882294

    Human Gene Mutation Database (HGMD): PKD1
    Locus Specific Mutation Databases (LSDB): PKD1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PKD1
    DNA2.0 Custom Variant and Variant Library Synthesis for PKD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601313   
    OMIM disorders: 173900  
    UniProtKB/Swiss-Prot: PKD1_HUMAN, P98161
  • Polycystic kidney disease 1 (PKD1) [MIM:173900]: A 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for PKD1 (see all 48):    
    About MalaCards
    polycystic kidney disease, type 1    polycystic kidney disease, adult type i    end stage renal failure    polycystic kidney disease, type 2
    polycystic kidney disease    polycystic kidney disease, autosomal dominant    autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis    kidney disease
    cystic kidney    cerebral aneurysms    congenital hepatic fibrosis    tuberous sclerosis
    polycystic liver disease    autosomal dominant disease    marfan syndrome    von hippel-lindau disease
    intracranial aneurysm    renal dysplasia    dysostosis    liver disease

    5 diseases from the University of Copenhagen DISEASES database for PKD1:
    Polycystic kidney disease     Cystic kidney     Polycystic liver disease     Kidney failure
    Tuberous sclerosis

    PKD1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PKD1 gene (see all 34)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adpkd 98.3 503 12007219 (5), 11773467 (4), 10729710 (4), 12220456 (4) (see all 99)
    polycystic kidney diseases 95.5 112 17102641 (2), 8666666 (2), 17715262 (2), 8661056 (2) (see all 90)
    renal cyst 89.5 29 19194729 (4), 2215575 (2), 1605247 (1), 1583643 (1) (see all 20)
    polycystic kidney type 2 autosomal dominant disease 87.4 1 10023895 (1)
    arpkd 85.3 13 11981261 (2), 10200981 (1), 15674734 (1), 12647363 (1) (see all 9)
    polycystic kidney type 1 autosomal dominant disease 83.8 1 10364515 (1)
    cystic kidney disease 83 10 16207829 (2), 9631851 (1), 16536277 (1), 10362797 (1) (see all 7)
    cysts 79.8 89 10504485 (4), 11689485 (3), 19346236 (3), 10835625 (2) (see all 56)
    polycystic liver disease 75.7 4 16294159 (1), 19766642 (1)
    tuberous sclerosis 70.9 23 9382094 (2), 18598780 (1), 11812941 (1), 17373211 (1) (see all 17)

    GeneTests: PKD1
    GeneReviews: PKD1
    Genetic Association Database (GAD): PKD1
    Human Genome Epidemiology (HuGE) Navigator: PKD1 (14 documents)

    Export disorders for PKD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PKD1 gene, integrated from 10 sources (see all 533):
    (articles sorted by number of sources associating them with PKD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. (PubMed id 12220456)1, 2, 4, 9 Eo H.-S....Kim U.K. (Clin. Genet. 2002)
    2. Thirteen novel mutations of the replicated region of PKD1 in an Asian population. (PubMed id 11012875)1, 2, 9 Phakdeekitcharoen B....Germino G.G. (Kidney Int. 2000)
    3. Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. (PubMed id 9199561)1, 2, 9 Peral B.... Harris P.C. (Am. J. Hum. Genet. 1997)
    4. Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease. (PubMed id 19194729)1, 4, 9 Fencl F....Seeman T. (Pediatr. Nephrol. 2009)
    5. Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency. (PubMed id 17980165)1, 2, 9 Li X.... Wilson P.D. (Biochim. Biophys. Acta 2008)
    6. Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. (PubMed id 10729710)1, 2, 9 Kim U.K.... Lee C.C. (Mutat. Res. 2000)
    7. Mutational analysis within the 3' region of the PKD1 gene. (PubMed id 10200984)1, 2, 9 Badenas C.... Darnell A. (Kidney Int. 1999)
    8. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection. (PubMed id 9285784)1, 2, 9 Watnick T.J.... Germino G.G. (Hum. Mol. Genet. 1997)
    9. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. (PubMed id 7736581)1, 2, 9 Gluecksmann-Kuis M.A.... Frischauf A.-M. (Cell 1995)
    10. Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families. (PubMed id 11571556)1, 2, 9 Bouba I.... Deltas C.C. (Eur. J. Hum. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5310 HGNC: 9008 AceView: PKD1 Ensembl:ENSG00000008710 euGenes: HUgn5310
    ECgene: PKD1 H-InvDB: PKD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PKD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PKD1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PKD1[genesymbol]
    Functional Glycomics Gateway - Glycan Bindinghttp://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_204

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PKD1 gene:
    Search GeneIP for patents involving PKD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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