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PKP1 Gene

protein-coding   GIFtS: 63
GCID: GC01P201252

Plakophilin 1 (Ectodermal Dysplasia/Skin Fragility Syndrome)

  See PKP1-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
Plakophilin 1 (Ectodermal Dysplasia/Skin Fragility Syndrome)1 2
Band 6 Protein2 3
B6P2 3
plakophilin-12

External Ids:    HGNC: 90231   Entrez Gene: 53172   Ensembl: ENSG000000812777   OMIM: 6019755   UniProtKB: Q138353   

Export aliases for PKP1 gene to outside databases

Previous GC identifers: GC01P198976 GC01P196710 GC01P197719 GC01P198540 GC01P197984 GC01P199519 GC01P172418


(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 PKP1 Gene:
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins
contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins
to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and
stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal
dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Jul 2010)

GeneCards Summary for PKP1 Gene:
PKP1 (plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)) is a protein-coding gene. Diseases associated with PKP1 include ectodermal dysplasia skin fragility syndrome, and pkp1-related ectodermal dysplasia/skin fragility syndrome. GO annotations related to this gene include structural constituent of epidermis and signal transducer activity. An important paralog of this gene is CTNND1.

UniProtKB/Swiss-Prot: PKP1_HUMAN, Q13835
Function: Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis

Gene Wiki entry for PKP1 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 at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the PKP1 gene promoter:
         SRF   GR   NF-1   SRF (504 AA)   GR-beta   PPAR-gamma1   PPAR-gamma2   GR-alpha   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPKP1 promoter sequence
   Search Chromatin IP Primers for PKP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PKP1


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

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32

PKP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PKP1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P201252:  view genomic region     (about GC identifiers)

Start:
201,252,580 bp from pter      End:
201,302,121 bp from pter
Size:
49,542 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: PKP1_HUMAN, Q13835 (See protein sequence)
Recommended Name: Plakophilin-1  
Size: 747 amino acids; 82861 Da
1 PDB 3D structure from and Proteopedia for PKP1:
1XM9 (3D)    
Secondary accessions: O00645 Q14CA0 Q15152
Alternative splicing: 2 isoforms:  Q13835-1   Q13835-2   

Explore the universe of human proteins at neXtProt for PKP1: NX_Q13835

Explore proteomics data for PKP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PKP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000290.2  NP_001005337.1  

    ENSEMBL proteins: 
     ENSP00000356293   ENSP00000295597   ENSP00000263946  
    Reactome Protein details: Q13835

    PKP1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARMC: Armadillo repeat containing

    5 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR028432 Plakophilin-1
     IPR028435 Plakophilin/d_Catenin
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q13835

    ProtoNet protein and cluster: Q13835

    UniProtKB/Swiss-Prot: PKP1_HUMAN, Q13835
    Similarity: Belongs to the beta-catenin family
    Similarity: Contains 9 ARM repeats


    Find genes that share domains with PKP1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PKP1_HUMAN, Q13835
    Function: Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis

         Genatlas biochemistry entry for PKP1:
    plakophilin 1,essential plaque protein of desmosomes in stratified epithelia with desmosomal location,interacting
    with desmogleins and desmocollins,involved in cutaneous cell-cell interaction and epidermal
    morphogenesis,homologous to Drosophila Armadillo segment polarity gene,enhancing lateral interaction between
    desmoplakines molecules

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS7527055
    GO:0005488binding ----
    GO:0005515protein binding IPI10852826
    GO:0005521lamin binding IDA10852826
    GO:0019215intermediate filament binding NAS10852826
         
    Find genes that share ontologies with PKP1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for PKP1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased circadian period len 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PKP1
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    miRNA
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    miRTarBase miRNAs that target PKP1:
    hsa-mir-148b-3p (MIRT019417)

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    Selected qRT-PCR Assays for microRNAs that regulate PKP1 (see all 18):
    hsa-miR-579 hsa-miR-323-3p hsa-miR-4328 hsa-miR-429 hsa-miR-509-5p hsa-miR-3613-3p hsa-miR-558 hsa-miR-489
    SwitchGear 3'UTR luciferase reporter plasmidPKP1 3' UTR sequence
    Inhib. RNA
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    (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
    PKP1_HUMAN, Q13835: Isoform 1: Nucleus. Cell junction, desmosome
    PKP1_HUMAN, Q13835: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    plasma membrane4
    cytosol3
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS9369526
    GO:0005730NOT nucleolus IDA--
    GO:0005882intermediate filament TAS7527055
    GO:0005886plasma membrane TAS--
    GO:0030057desmosome NAS7527055

    Find genes that share ontologies with PKP1           About GenesLikeMe


    (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 PKP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    Apoptotic cleavage of cell adhesion proteins0.00
    Apoptotic execution phase0.74
    2CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.38
    3Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments


    Find genes that share SuperPaths with PKP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PKP1
        Cytoskeleton remodeling Keratin filaments


    1 Reactome Pathway for PKP1
        Apoptotic cleavage of cell adhesion proteins


        Pathway & Disease-focused RT2 Profiler PCR Array including PKP1: 
              Adherens Junctions in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PKP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for PKP1 (Q138353 ENSP000002639464) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VIMP086703, ENSP000002242374I2D: score=3 STRING: ENSP00000224237
    WIPI1Q5MNZ93, ENSP000002621394I2D: score=3 STRING: ENSP00000262139
    DSG1Q024133, ENSP000002571924I2D: score=2 STRING: ENSP00000257192
    USP1O947823, ENSP000003435264I2D: score=2 STRING: ENSP00000343526
    DSC1Q085543, ENSP000002571984I2D: score=3 STRING: ENSP00000257198
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0007155cell adhesion NAS10852826
    GO:0007165signal transduction NAS7527055
    GO:0007275multicellular organismal development IEA--

    Find genes that share ontologies with PKP1           About GenesLikeMe



    (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 PKP1

    2 Novoseek inferred chemical compound relationships for PKP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 0 1 8804921 (1)
    calcium 0 2 10880961 (1), 14987275 (1)



    Find genes that share compounds with PKP1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PKP1 gene (2 alternative transcripts): 
    NM_000299.3  NM_001005337.2  

    Unigene Cluster for PKP1:

    Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
    Hs.497350  [show with all ESTs]
    Unigene Representative Sequence: NM_000299
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367324(uc001gwe.3 uc009wzm.3) ENST00000352845 ENST00000475988
    ENST00000477817 ENST00000263946(uc001gwd.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PKP1 (see all 18):
    hsa-miR-579 hsa-miR-323-3p hsa-miR-4328 hsa-miR-429 hsa-miR-509-5p hsa-miR-3613-3p hsa-miR-558 hsa-miR-489
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    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat PKP1

    Additional mRNA sequence: 

    AK123555.1 AK299473.1 AK315291.1 AK316131.1 BC040253.1 BC114571.1 X79293.1 Z34974.1 

    8 DOTS entries:

    DT.95375996  DT.95376002  DT.91687041  DT.121354190  DT.97825723  DT.121354196  DT.95311232  DT.95375998 

    Selected AceView cDNA sequences (see all 144):

    AL698788 BM702721 AI130749 BX505134 CB127299 CB127297 BE673006 BG677173 
    AA010145 BM913960 BG679653 Z34974 BF222669 BX101390 BM686829 NM_000299 
    BG698663 AW873059 X79293 AI672972 AW873049 BX390309 BV197821 BX504965 

    GeneLoc Exon Structure


    (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)
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    PKP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGTAGAGG
    PKP1 Expression
    About this image


    PKP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Thymus (Hematopoietic System)
             Thymus
     
     Adipose (Muscoskeletal System)
             Visceral White Adipocytes Visceral White Adipose
     
     Esophagus (Gastrointestinal Tract)
    PKP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PKP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.497350

    UniProtKB/Swiss-Prot: PKP1_HUMAN, Q13835
    Tissue specificity: Isoform 2 is widely expressed. Isoform 1 is expressed in stratified squamous, complex,
    glandular duct and bladder epithelia

        Pathway & Disease-focused RT2 Profiler PCR Array including PKP1: 
              Adherens Junctions in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PKP1

    (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 PKP1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pkp11 , 5 plakophilin 11, 5 91.32(n)1
    95.04(a)1
      1 (59.35 cM)5
    187721  NM_019645.21  NP_062619.11 
     1358713955 
    chicken
    (Gallus gallus)
    Aves PKP11 plakophilin 1 (ectodermal dysplasia/skin fragility more 73.16(n)
    70.3(a)
      421158  XM_419240.4  XP_419240.3 
    lizard
    (Anolis carolinensis)
    Reptilia PKP16
    plakophilin 1 (ectodermal dysplasia/skin fragility...
    67(a)
    1 ↔ 1
    4(131268581-131318455)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pkp11 plakophilin 1 (ectodermal dysplasia/skin fragility more 59.39(n)
    57.62(a)
      100496099  XM_002932138.2  XP_002932184.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pkp1b1 plakophilin 1b 51.55(n)
    40.18(a)
      797838  XM_001338263.3  XP_001338299.2 


    ENSEMBL Gene Tree for PKP1 (if available)
    TreeFam Gene Tree for PKP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PKP1 gene
    CTNND12  PKP22  PKP32  CTNND22  ARVCF2  PKP42  
    4 SIMAP similar genes for PKP1 using alignment to 2 protein entries:     PKP1_HUMAN (see all proteins):
    CTNND2    ARVCF    CTNND1    PKP2

    Find genes that share paralogs with PKP1           About GenesLikeMe



    (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 PKP1 (see all 1332)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs360763981,2
    C--172459779(+) TGCCTG/-GGAAG 2 -- int11Minor allele frequency- -:0.50NA 2
    rs2009383701,2
    C--172459781(-) GGCTTC/TCCAGG 2 -- int10--------
    rs11053311,2
    C,F,O,A,H--172466118(-) TGACAC/TTACAG 2 -- ut3130Minor allele frequency- T:0.43NA EA NS MN WA 2854
    rs57800611,2
    C--201251613(+) TACTTA/-AAAAA 2 -- us2k1 trp33Minor allele frequency- -:0.17NA CSA 6
    rs1406836111,2
    C--201254349(+) TCCAC-/CACACAC
    ACACACACA
    CACAC
    2 -- int10--------
    rs114329331,2
    C--201265015(+) AAAAAA/-TCTTC 2 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs562499341,2
    C--201275976(+) TTTTG-/TTTTTT 2 -- int12Minor allele frequency- T:0.00NA CSA 4
    rs17227561,2
    C,H--201276498(+) CAGAGG/AGGTCA 2 -- int13Minor allele frequency- A:0.00WA NA 6
    rs16289051,2
    C,A,H--201276499(+) AGAGAA/GGTCAG 2 -- int16Minor allele frequency- G:0.02WA NA EA 364
    rs113364571,2
    C--201286615(+) GTCTG-/AAAAAA 2 -- int1 trp32Minor allele frequency- A:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for PKP1 (201252580 - 201302121 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for PKP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667516CNV Deletion23128226
    esv1197580CNV Insertion17803354
    esv992760CNV Insertion20482838
    nsv873101CNV Loss21882294
    nsv467961CNV Gain19166990
    nsv470776CNV Gain18288195

    Human Gene Mutation Database (HGMD): PKP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PKP1
    DNA2.0 Custom Variant and Variant Library Synthesis for PKP1

    (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.)
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    OMIM gene information: 601975   
    OMIM disorders: 604536  
    UniProtKB/Swiss-Prot: PKP1_HUMAN, Q13835
  • Ectodermal dysplasia-skin fragility syndrome (EDSFS) [MIM:604536]: A form of ectodermal dysplasia, a
    heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized
    by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There
    is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and
    poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate
    filament interactions. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for PKP1:    
    About MalaCards
    ectodermal dysplasia skin fragility syndrome    pkp1-related ectodermal dysplasia/skin fragility syndrome    hereditary mucoepithelial dysplasia    ectodermal dysplasia
    hypohidrotic ectodermal dysplasia


    Find genes that share disorders with PKP1           About GenesLikeMe

    10 Novoseek inferred disease relationships for PKP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ectodermal dysplasia 80.9 10 15086548 (2), 11180229 (2), 12839569 (1), 16632867 (1) (see all 6)
    nail dystrophy 80 1 10635620 (1)
    skin erosion 77.9 1 19945625 (1)
    hnscc 35.7 1 17668353 (1)
    carcinoma squamous cell 33.2 6 17668353 (4), 17593084 (1)
    dysplasia 29.9 7 11994137 (2), 10379701 (1), 16445790 (1), 12840072 (1) (see all 5)
    cardiomyopathy 27.7 2 19016709 (1)
    metastasis 0 2 12827610 (2)
    tumors 0 15 12827610 (3), 14744087 (1), 17668353 (1), 20348237 (1) (see all 5)
    carcinoma 0 1 8922383 (1)

    Genatlas disease: PKP1
    cutaneous fragility and congenital ectodermal dysplasia affecting skin,hair and nails

    Genetic Association Database (GAD): PKP1
    Human Genome Epidemiology (HuGE) Navigator: PKP1 (7 documents)

    Export disorders for PKP1 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)
    About This Section

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    PubMed articles for PKP1 gene, integrated from 10 sources (see all 99):
    (articles sorted by number of sources associating them with PKP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the armadillo repeat domain of plakophilin 1. (PubMed id 15663951)1, 2, 9 Choi H.-J. and Weis W.I. (J. Mol. Biol. 2005)
    2. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. (PubMed id 9326952)1, 2, 9 McGrath J.A.... Eady R.A.J. (Nat. Genet. 1997)
    3. The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively. (PubMed id 9272178)1, 3, 9 Cowley C.M....Buxton R.S. (Hum. Genet. 1997)
    4. Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. (PubMed id 9369526)1, 2, 9 Schmidt A....Franke W.W. (Cell Tissue Res. 1997)
    5. Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family. (PubMed id 7527055)1, 2, 9 Hatzfeld M.... Weber K. (J. Cell Sci. 1994)
    6. Genome-wide association study of panic disorder in the Japanese population. (PubMed id 19165232)1, 4, 9 Otowa T....Okazaki Y. (J. Hum. Genet. 2009)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)

    (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: 5317 HGNC: 9023 AceView: PKP1 Ensembl:ENSG00000081277 euGenes: HUgn5317
    ECgene: PKP1 H-InvDB: PKP1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for PKP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PKP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PKP1 gene:
    Search GeneIP for patents involving PKP1

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



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