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

PKP1 Gene

protein-coding   GIFtS: 57
GCID: GC01P201252

plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)

 Explore 23 diseases affiliated with
PKP1 via our new
 Human Malady Compendium 
Biological research products
for PKP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Plakophilin 1 (Ectodermal Dysplasia/Skin Fragility Syndrome)1 2
B6P1 2 3
Band 6 Protein2 3
Plakophilin-11

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:
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)

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

Gene Wiki entry for PKP1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13835

  • PKP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000356293   ENSP00000295597   ENSP00000263946  
    Reactome Protein details: Q13835
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    Uscn 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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PKP1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    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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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS9326952
    GO:0005515protein binding IPI10852826
    GO:0005521lamin binding IDA10852826
    GO:0019215intermediate filament binding NAS10852826
    GO:0030280structural constituent of epidermis NAS7527055


    PKP1 for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins1.00
    Apoptotic execution phase0.73
    2Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments1.00
    Cytoskeleton remodeling_Keratin filaments0.91
    3Apoptotic cleavage of cell adhesion proteins
    Apoptotic cleavage of cell adhesion proteins1.00
    4Ubiquitinated Orc1 is degraded by the proteasome
    Apoptosis0.31

    Pathway sources
    See GeneCards unified pathways
    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, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PKP1
    2 Novoseek 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 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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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    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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    Additional cDNA 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):

    BX505134 BG677173 AA010145 AI130749 CB127299 AL698788 CB127297 BM913960 
    BM702721 BG679653 BE673006 AW873049 AI373444 NM_000299 AI685459 BG675696 
    BG682295 BX101390 BM987411 BX390309 BF222370 BG743204 BF876654 AW873059 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGTAGAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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
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    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 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    66(a)
    1 ↔ 1
    4(131268854-131318455)
    zebrafish
    (Danio rerio)
    Actinopterygii pkp1b1 plakophilin 1b 51.48(n)
    39.45(a)
      797838  XM_001338263.2  XP_001338299.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta p120ctn6
    Adherens junction protein p120
    19(a)
    1 → many
    2R(482798-496995)
    worm
    (Caenorhabditis elegans)
    Secernentea jac-16
    Juxtamembrane domain-associated catenin
    11(a)
    1 → many
    IV(15997633-16026815)


    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, UniProtKB, 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

    10/1110 NCBI SNPs in PKP1 are shown (see all 1110    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs749016891,2
    F,--172416836(+) TTATCG/ATTATT 2 -- us2k11Minor allele frequency- A:0.10WA 118
    rs7004661,2
    C,F,O,H,--172417012(-) CTTATA/GAAAGT 2 -- us2k111Minor allele frequency- G:0.12MN NS EA NA WA CSA 847
    rs754566091,2
    F,--172417075(+) GGTTAG/AGATGC 2 -- us2k11Minor allele frequency- A:0.06WA 118
    rs7004671,2
    C,F,H,--172417559(-) CAGAGG/AAAAGG 2 -- us2k1 trp322Minor allele frequency- A:0.08MN NS EA NA WA CSA 2366
    rs168482111,2
    C,F,--172417637(+) AGTGAC/TGGCTG 2 -- us2k15Minor allele frequency- T:0.02NA 262
    rs124020141,2
    C,H--172417690(+) TGACCG/AGACAG 2 -- us2k14Minor allele frequency- A:0.00NS EA 398
    rs777563951,2
    C,--172418284(+) TGTGGT/GCTGAT 2 -- us2k13Minor allele frequency- G:0.08CSA WA NA 240
    rs1176512741,2
    C,F,--172418973(+) GAGCAC/AGCTCC 2 -- ut511Minor allele frequency- A:0.06EA 120
    rs1130171511,2
    F--172419056(+) CCGCCG/ACCATG 2 -- ut512Minor allele frequency- A:0.50CSA 4
    rs120835831,2
    C,F,--172419347(+) ATCCCC/GGGGGA 2 -- int12Minor allele frequency- G:0.09WA NA 238

    HapMap Linkage Disequilibrium report for PKP1 (201252580 - 201302121 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PKP1: --
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PKP1 for disorders           About GeneDecksing

    OMIM gene information: 601975   
    OMIM disorders: 604536  
    UniProtKB/Swiss-Prot: PKP1_HUMAN, Q13835
  • Defects in PKP1 are the cause of ectodermal dysplasia-skin fragility syndrome (EDSFS) [MIM:604536]; also known
  • as McGrath syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of
    two or more ectodermal structures. EDSFS is characterized by features of both cutaneous fragility and congenital
    ectodermal dysplasia affecting 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

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

    10 Novoseek 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

    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 90):
    (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. Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. (PubMed id 12840072)1, 9 South A.P....McGrath J.A. (2003)
    7. Physical characterization of plakophilin 1 reconstituted with and without zinc. (PubMed id 10880961)1, 9 Hofmann I....Langowski J. (2000)
    8. Ectodermal dysplasia-skin fragility syndrome. (PubMed id 19945625)1, 9 McGrath J.A. and Mellerio J.E. (2010)
    9. Decreased plakophilin-1 expression promotes increased motility in head and neck squamous cell carcinoma cells. (PubMed id 17668353)1, 9 Sobolik-Delmaire T....Wahl J.K. (2007)
    10. Carboxyl terminus of Plakophilin-1 recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly. (PubMed id 16632867)1, 9 Sobolik-Delmaire T....Wahl J.K. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (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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