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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PKP1 Gene

protein-coding   GIFtS: 62
GCID: GC01P201252

Plakophilin 1 (Ectodermal Dysplasia/Skin Fragility Syndrome)

  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hereditary mucoepithelial dysplasia, and among its related super-pathways are Apoptotic execution phase and Cytoskeleton remodeling Keratin filaments. GO annotations related to this gene include structural constituent of epidermis and signal transducer activity. An important paralog of this gene is PKP2.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PKP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PKP1_HUMAN, Q13835 (See protein sequence)
Recommended Name: Plakophilin-1  
Size: 747 amino acids; 82861 Da
Subcellular location: Isoform 1: Nucleus. Cell junction, desmosome
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13835

  • PKP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PKP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000290.2  NP_001005337.1  

    ENSEMBL proteins: 
     ENSP00000356293   ENSP00000295597   ENSP00000263946  
    Reactome Protein details: Q13835
    Human Recombinant Protein Products for PKP1: 
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    Cloud-Clone Corp. Proteins for PKP1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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

    PKP1 for ontologies           About GeneDecksing



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

    3 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     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


    PKP1 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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
         
    PKP1 for ontologies           About GeneDecksing


    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:
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    SwitchGear 3'UTR luciferase reporter plasmidPKP1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PKP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.73
    Apoptotic execution phase0.73
    2Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments0.91
    3CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.39
    4Apoptotic cleavage of cell adhesion proteins
    Apoptotic cleavage of cell adhesion proteins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PKP1
        Cytoskeleton remodeling Keratin filaments


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


    4        Reactome Pathways for PKP1
        Apoptotic cleavage of cell adhesion proteins
    Apoptotic execution phase
    Apoptotic cleavage of cellular proteins
    Apoptosis



    PKP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PKP1

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

    5/21 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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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--

    PKP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PKP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about PKP1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)
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    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 

    24/144 AceView cDNA sequences (see all 144):

    BG679653 BX505134 BE673006 BG677173 AI130749 AA010145 CB127299 AL698788 
    BM702721 CB127297 BM913960 AW873049 BM982819 BC040253 AA603008 BV197821 
    W69611 AL599615 AK123555 BE876823 BG677841 CA487567 BQ323314 BM909181 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PKP1 expression in normal human tissues (normalized intensities)      PKP1 embryonic expression: see
    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 
     5/12 selected tissues (see all 12) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
             gingival epithelium   
     
     Oral Cavity (Integumentary System)    fully expand to see all 5 entries
             Human Oral Keritinocytes (HOK)   
             mouth   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Stratified Epidermis
             Human EpiDermal Keratinocytes (HEK)   

    See PKP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PKP1

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PKP1 gene from 5/11 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_419240.3  XP_419240.3 
    lizard
    (Anolis carolinensis)
    Reptilia PKP16
    Uncharacterized protein
    67(a)
    1 ↔ 1
    4(131268581-131318455)
    zebrafish
    (Danio rerio)
    Actinopterygii pkp1b1 plakophilin 1b 51.48(n)
    39.45(a)
      797838  XM_001338263.2  XP_001338299.2 
    worm
    (Caenorhabditis elegans)
    Secernentea jac-16
    Juxtamembrane domain-associated catenin
    11(a)
    1 → many
    IV(15997665-16026847)


    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)
    About This Section
    Paralogs for PKP1 gene
    PKP22  CTNND12  PKP32  CTNND22  ARVCF2  PKP42  
    5 SIMAP similar genes for PKP1 using alignment to 2 protein entries:     PKP1_HUMAN (see all proteins):
    CTNND2    ARVCF    PKP2    CTNND1    PKP3

    PKP1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1332 SNPs in PKP1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/23 diseases for PKP1 (see all 23):    About MalaCards
    ectodermal dysplasia skin fragility syndrome    hereditary mucoepithelial dysplasia    pkp1-related ectodermal dysplasia/skin fragility syndrome    ectodermal dysplasia
    ewing's family of tumors    hypohidrosis    hypohidrotic ectodermal dysplasia    palmoplantar keratosis
    keratosis    panic disorder    epidermolysis bullosa    liposarcoma
    vaginitis    prostate adenocarcinoma    esophageal adenocarcinoma    esophageal cancer
    esophagitis    adenocarcinoma    squamous cell carcinoma    cervicitis


    PKP1 for disorders           About GeneDecksing

    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

    PubMed articles for PKP1 gene, integrated from 9 sources (see all 97):
    (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. (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. (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. (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. (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. (1994)
    6. Genome-wide association study of panic disorder in the Japanese population. (PubMed id 19165232)1, 4, 9 Otowa T....Okazaki Y. (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. (2010)
    8. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (2008)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 5317 HGNC: 9023 AceView: PKP1 Ensembl:ENSG00000081277 euGenes: HUgn5317
    ECgene: PKP1 H-InvDB: PKP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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