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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
  • Plakophilin-1 3

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 Innate Immune System and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include binding and lamin binding. An important paralog of this gene is PKP2.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G201305 1.9 FANTOM5 Ensembl ENCODE dbSUPER 25.2 +26.2 26162 7.5 HDGF PKNOX1 MLX ARID4B SIN3A ZBTB7B YY1 ZNF207 ZNF143 FOS PKP1 LAD1 ENSG00000229821 IGFN1 ASCL5 CACNA1S INAVA GC01P201285 GC01M201335
GH01G201334 0.8 ENCODE dbSUPER 20.6 +51.8 51831 1.7 RAD51 ESRRA CEBPB CEBPG ATF2 EP300 PKP1 TNNT2 LAD1 IGFN1 TMEM9 GC01M201335 GC01P201285
GH01G201346 1 ENCODE dbSUPER 15.6 +63.1 63090 0.9 GTF2F1 CTCF PKNOX1 ZSCAN4 TEAD4 SIN3A RAD21 TEAD3 CTBP1 GATA3 PKP1 TNNT2 LAD1 ENSG00000229821 IGFN1 TMEM9 GC01M201335 LOC101929326
GH01G201403 1.5 Ensembl ENCODE dbSUPER 9.8 +122.3 122340 4.0 HDGF HNRNPUL1 FOXA2 MLX ARID4B DMAP1 ZNF2 ZNF48 ZNF143 ZNF263 TNNI1 PKP1 LAD1 ENSG00000227048
GH01G201294 1.2 ENCODE dbSUPER 10.5 +15.9 15878 9.9 PKNOX1 NFIB SIN3A KLF17 RAD21 ZNF335 ZNF121 ZNF366 SCRT2 SMARCC2 IPO9 IPO9-AS1 ENSG00000229821 IGFN1 PKP1 LAD1 ASCL5 CACNA1S GC01P201285 GC01M201335
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

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.
Family:
  • Belongs to the beta-catenin family.
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:0004871 signal transducer activity TAS 7527055
GO:0005515 protein binding IPI 10852826
GO:0005521 lamin binding IDA 10852826
GO:0019215 intermediate filament binding NAS 10852826
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PKP1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PKP1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for PKP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005634 nucleus IDA,NAS 9369526
GO:0005654 nucleoplasm IDA --
GO:0005882 intermediate filament TAS 7527055
GO:0005886 plasma membrane TAS --
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:0007155 cell adhesion NAS 10852826
GO:0007165 signal transduction NAS 7527055
GO:0007275 multicellular organism development IEA --
GO:0010628 positive regulation of gene expression IMP 25225333
GO:0016337 single organismal cell-cell adhesion IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PKP1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PKP1 Gene



Protein tissue co-expression partners for PKP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PKP1 Gene:

PKP1

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.

Evidence on tissue expression from TISSUES for PKP1 Gene

  • Skin(4.8)
  • Lung(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PKP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tongue
  • tooth
Abdomen:
  • intestine
  • large intestine
  • small intestine
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PKP1: view

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
chimpanzee
(Pan troglodytes)
Mammalia PKP1 34 35
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 95 (a)
OneToMany
-- 35
  • 95 (a)
OneToMany
LOC100855871 34
  • 91.46 (n)
mouse
(Mus musculus)
Mammalia Pkp1 34 16 35
  • 91.32 (n)
rat
(Rattus norvegicus)
Mammalia Pkp1 34
  • 89.9 (n)
cow
(Bos Taurus)
Mammalia PKP1 34 35
  • 89.35 (n)
oppossum
(Monodelphis domestica)
Mammalia PKP1 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PKP1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PKP1 34 35
  • 73.16 (n)
lizard
(Anolis carolinensis)
Reptilia PKP1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pkp1 34
  • 59.39 (n)
zebrafish
(Danio rerio)
Actinopterygii pkp1b 34 35
  • 51.55 (n)
pkp1a 35
  • 41 (a)
OneToMany
Species where no ortholog for PKP1 was found in the sources mined by GeneCards:
  • 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
rs121918354 Pathogenic 201,317,635(+) ACGTC(C/T)AGCAG reference, stop-gained
rs114649649 Likely benign 201,330,233(+) AACTG(A/G)CAGGC utr-variant-3-prime
rs1722779 Likely benign 201,317,643(-) GCCGC(A/G/T)GCCTG reference, synonymous-codon
rs17425876 Likely benign 201,331,925(+) CAGGG(A/G)CCTCC utr-variant-3-prime
rs34626929 Likely benign 201,313,206(+) CAGGC(A/G)CTTCA reference, missense

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

Variant ID Type Subtype PubMed ID
esv1197580 CNV insertion 17803354
esv2667516 CNV deletion 23128226
esv3355674 CNV duplication 20981092
esv3588569 CNV loss 21293372
esv992760 CNV insertion 20482838
nsv1002728 CNV gain 25217958
nsv467961 CNV gain 19166990
nsv470776 CNV gain 18288195
nsv480396 CNV novel sequence insertion 20440878
nsv548996 CNV loss 21841781
nsv548997 CNV gain 21841781
nsv947466 CNV duplication 23825009

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PKP1

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

Disorders for PKP1 Gene

MalaCards: The human disease database

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

- 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. Genome-wide association study of panic disorder in the Japanese population. (PMID: 19165232) Otowa T. … Okazaki Y. (J. Hum. Genet. 2009) 3 22 46 64
  2. Structure of the armadillo repeat domain of plakophilin 1. (PMID: 15663951) Choi H.-J. … Weis W.I. (J. Mol. Biol. 2005) 3 4 22 64
  3. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. (PMID: 9326952) McGrath J.A. … Eady R.A.J. (Nat. Genet. 1997) 3 4 22 64
  4. Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. (PMID: 9369526) Schmidt A. … Franke W.W. (Cell Tissue Res. 1997) 3 4 22 64
  5. 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 22 64

Products for PKP1 Gene

Sources for PKP1 Gene

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