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Aliases for PKP1 Gene

Aliases for PKP1 Gene

  • Plakophilin 1 2 3 5
  • Band 6 Protein 3 4
  • B6P 3 4
  • Plakophilin 1 (Ectodermal Dysplasia/Skin Fragility Syndrome) 2
  • Ectodermal Dysplasia/Skin Fragility Syndrome 2

External Ids for PKP1 Gene

Previous GeneCards Identifiers for PKP1 Gene

  • GC01P198976
  • GC01P196710
  • GC01P197719
  • GC01P198540
  • GC01P197984
  • GC01P199519
  • GC01P172418

Summaries for PKP1 Gene

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) is a Protein Coding gene. Diseases associated with PKP1 include Ectodermal Dysplasia/Skin Fragility Syndrome and Pkp1-Related Ectodermal Dysplasia/Skin Fragility Syndrome. Among its related pathways are Apoptotic cleavage of cellular proteins and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include binding and lamin binding. An important paralog of this gene is CTNND1.

UniProtKB/Swiss-Prot for PKP1 Gene

  • Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.

Gene Wiki entry for PKP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PKP1 Gene

Genomics for PKP1 Gene

Regulatory Elements for PKP1 Gene

Enhancers for PKP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PKP1 on UCSC Golden Path with GeneCards custom track

Promoters for PKP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PKP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PKP1 Gene

Chromosome:
1
Start:
201,283,452 bp from pter
End:
201,332,993 bp from pter
Size:
49,542 bases
Orientation:
Plus strand

Genomic View for PKP1 Gene

Genes around PKP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PKP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PKP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PKP1 Gene

Proteins for PKP1 Gene

  • Protein details for PKP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13835-PKP1_HUMAN
    Recommended name:
    Plakophilin-1
    Protein Accession:
    Q13835
    Secondary Accessions:
    • O00645
    • Q14CA0
    • Q15152

    Protein attributes for PKP1 Gene

    Size:
    747 amino acids
    Molecular mass:
    82861 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PKP1 Gene

    Alternative splice isoforms for PKP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PKP1 Gene

Proteomics data for PKP1 Gene at MOPED

Post-translational modifications for PKP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PKP1 Gene

No data available for DME Specific Peptides for PKP1 Gene

Domains & Families for PKP1 Gene

Gene Families for PKP1 Gene

Protein Domains for PKP1 Gene

Suggested Antigen Peptide Sequences for PKP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13835

UniProtKB/Swiss-Prot:

PKP1_HUMAN :
  • Belongs to the beta-catenin family.
  • Contains 9 ARM repeats.
Family:
  • Belongs to the beta-catenin family.
Similarity:
  • Contains 9 ARM repeats.
genes like me logo Genes that share domains with PKP1: view

Function for PKP1 Gene

Molecular function for PKP1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.

Gene Ontology (GO) - Molecular Function for PKP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030280 structural constituent of epidermis NAS 7527055
genes like me logo Genes that share ontologies with PKP1: view
genes like me logo Genes that share phenotypes with PKP1: view

Human Phenotype Ontology for PKP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PKP1 Gene

Localization for PKP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PKP1 Gene

Isoform 1: Nucleus. Cell junction, desmosome.
Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PKP1 Gene COMPARTMENTS Subcellular localization image for PKP1 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
plasma membrane 5
cytosol 3

Gene Ontology (GO) - Cellular Components for PKP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PKP1: view

Pathways & Interactions for PKP1 Gene

genes like me logo Genes that share pathways with PKP1: view

Pathways by source for PKP1 Gene

Gene Ontology (GO) - Biological Process for PKP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 7527055
GO:0007275 multicellular organism development IEA --
GO:0016337 single organismal cell-cell adhesion IEA --
GO:0045110 intermediate filament bundle assembly IDA 10852826
genes like me logo Genes that share ontologies with PKP1: view

No data available for SIGNOR curated interactions for PKP1 Gene

Drugs & Compounds for PKP1 Gene

(1) Drugs for PKP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PKP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PKP1: view

Transcripts for PKP1 Gene

Unigene Clusters for PKP1 Gene

Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PKP1 Gene

No ASD Table

Relevant External Links for PKP1 Gene

GeneLoc Exon Structure for
PKP1
ECgene alternative splicing isoforms for
PKP1

Expression for PKP1 Gene

mRNA expression in normal human tissues for PKP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PKP1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x17.3), Skin - Not Sun Exposed (Suprapubic) (x14.9), Esophagus - Mucosa (x10.1), and Vagina (x4.3).

Protein differential expression in normal tissues from HIPED for PKP1 Gene

This gene is overexpressed in Hair follicle (49.7) and Saliva (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PKP1 Gene



SOURCE GeneReport for Unigene cluster for PKP1 Gene Hs.497350

mRNA Expression by UniProt/SwissProt for PKP1 Gene

Q13835-PKP1_HUMAN
Tissue specificity: Isoform 2 is widely expressed. Isoform 1 is expressed in stratified squamous, complex, glandular duct and bladder epithelia.
genes like me logo Genes that share expression patterns with PKP1: view

Protein tissue co-expression partners for PKP1 Gene

- Elite partner

Primer Products

Orthologs for PKP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PKP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PKP1 35
  • 89.35 (n)
  • 92.84 (a)
PKP1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PKP1 35
  • 91.46 (n)
  • 95.18 (a)
-- 36
  • 95 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pkp1 35
  • 91.32 (n)
  • 95.04 (a)
Pkp1 16
Pkp1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PKP1 35
  • 99.59 (n)
  • 100 (a)
PKP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pkp1 35
  • 89.9 (n)
  • 94.7 (a)
oppossum
(Monodelphis domestica)
Mammalia PKP1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKP1 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PKP1 35
  • 73.16 (n)
  • 70.3 (a)
PKP1 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PKP1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkp1 35
  • 59.39 (n)
  • 57.62 (a)
zebrafish
(Danio rerio)
Actinopterygii pkp1b 35
  • 51.55 (n)
  • 40.18 (a)
pkp1a 36
  • 41 (a)
OneToMany
pkp1b 36
  • 34 (a)
OneToMany
Species with no ortholog for PKP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PKP1 Gene

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

Paralogs for PKP1 Gene

Paralogs for PKP1 Gene

(4) SIMAP similar genes for PKP1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PKP1: view

Variants for PKP1 Gene

Sequence variations from dbSNP and Humsavar for PKP1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs34626929 - 201,313,206(+) CAGGC(A/G)CTTCA reference, missense
rs34704938 - 201,313,341(+) CTACT(A/G/T)TGACC reference, missense
rs35507614 - 201,313,445(+) AGGCC(A/G)TAAAG reference, missense
rs1626370 - 201,319,827(+) ACTGG(A/G)CATGC intron-variant, reference, missense
rs10920171 - 201,320,359(+) TGTAG(C/T)GGCCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PKP1 Gene

Variant ID Type Subtype PubMed ID
nsv873101 CNV Loss 21882294
esv2667516 CNV Deletion 23128226
esv992760 CNV Insertion 20482838
esv1197580 CNV Insertion 17803354
nsv467961 CNV Gain 19166990
nsv470776 CNV Gain 18288195

Variation tolerance for PKP1 Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.93; 74.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PKP1 Gene

Human Gene Mutation Database (HGMD)
PKP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PKP1 Gene

Disorders for PKP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PKP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ectodermal dysplasia/skin fragility syndrome
  • ectodermal dysplasia skin fragility syndrome
pkp1-related ectodermal dysplasia/skin fragility syndrome
ectodermal dysplasia
hereditary mucoepithelial dysplasia
  • mucoepithelial dysplasia, hereditary
- elite association - COSMIC cancer census association via MalaCards
Search PKP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PKP1_HUMAN
  • 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.

Genatlas disease for PKP1 Gene

cutaneous fragility and congenital ectodermal dysplasia affecting skin,hair and nails

Relevant External Links for PKP1

Genetic Association Database (GAD)
PKP1
Human Genome Epidemiology (HuGE) Navigator
PKP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PKP1
genes like me logo Genes that share disorders with PKP1: view

Publications for PKP1 Gene

  1. Structure of the armadillo repeat domain of plakophilin 1. (PMID: 15663951) Choi H.-J. … Weis W.I. (J. Mol. Biol. 2005) 3 4 23 67
  2. The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively. (PMID: 9272178) Cowley C.M. … Buxton R.S. (Hum. Genet. 1997) 2 3 23
  3. Ectodermal dysplasia-skin fragility syndrome. (PMID: 19945625) McGrath J.A. … Mellerio J.E. (Dermatol Clin 2010) 3 23
  4. Desmosomal plakophilins in the prostate and prostatic adenocarcinomas: implications for diagnosis and tumor progression. (PMID: 20348237) Breuninger S. … Hofmann I. (Am. J. Pathol. 2010) 3 23
  5. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. (PMID: 19016709) Tanaka A. … McGrath J.A. (Br. J. Dermatol. 2009) 3 23

Products for PKP1 Gene

Sources for PKP1 Gene

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