Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PPL contributors: mct - updated : 25-05-2012
HGNC name periplakin
HGNC id 9273
DNA
TYPE functioning gene
STRUCTURE 54.63 kb     22 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map pter - D16S510 - PPL /UBN1 - D16S509 - D16S506 - cen
Authors Aho (98)
Physical map
ADCY9 16p13.3 adenylate cyclase 9 LOC388208 16 LOC388208 SRL 16p13.3 sarcalumenin TFAP4 16p13 transcription factor AP-4 (activating enhancer binding protein 4) GLIS2 16p13.3 Kruppel-like zinc finger protein GLIS2 Magmas 16p13.3 mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction FLJ22021 16p13.3 hypothetical protein FLJ22021 DNAJA3 16p13.3 DnaJ (Hsp40) homolog, subfamily A, member 3 HSCARG 16p13.3 HSCARG protein HMOX2 16p13.3 heme oxygenase (decycling) 2 C16orf5 16p13.3 heme oxygenase (decycling) 2 LOC342346 16p13.3 similar to hypothetical protein DKFZp434P0316 LOC124402 16p13.3 LOC124402 MGRN1 16p13 mahogunin, ring finger 1 SDOS 16p13.3 hypothetical protein MGC11275 LOC146562 16p13.3 hypothetical protein AF447587 ZNF500 16p13.3 zinc finger protein 500 FLJ25410 16p13.3 hypothetical protein FLJ25410 LOC388209 16 hypothetical gene supported by BC022385; BC035868; BC048326 FLJ22386 16p13.3 leucine zipper domain protein N-PAC 16p13.3 cytokine-like nuclear factor n-pac UBN1 16p13.3 ubinuclein 1 PPL 16p13.3 periplakin KIAA0420 16p13.3 periplakin NAGPA 16p13.3 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase MGC45438 16p13.3 hypothetical protein MGC45438 ALG1 16p13.3 asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) LOC390672 16 similar to chromosome 11 open reading frame2; chromosome  11 open reading frame2 NPM1P3 16p13.3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 3
regionally located next to ubinuclein in tail to tail orientation
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 6256 - 1756 - 1998 9521878
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Endocrinepancreas    
Reproductivemale systemprostate   
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningepidermisstratum basale  Homo sapiens
Epithelialsecretoryglandularendocrine 
cells
SystemCellPubmedSpeciesStageRna symbol
Skin/Tegumentkeratinocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a globular N terminus, interacting with plectin to regulate keratin organisation and epithelial migration (
  • a central alpha helical coiled coil (rod) domain
  • a C-terminal tail consisting of characteristic repeat sequences
  • that may stabilise the interaction of the EVPL C-terminus with intermediate filaments
    HOMOLOGY
    interspecies homolog to murine Ppl
    Homologene
    FAMILY plakin family of cell junction proteins
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • may be linking the cornified envelope to desmosomes and intermediate filaments
  • can function in relocating protein kinase B into various cell compartments
  • component of desmosomes and the epidermal cornified envelope
  • first protein described to modify the capacity of the melanin-concentrating hormone-1 receptor to initiate signal transduction
  • cytoskeletal linker protein that participates in the assembly of epidermal cell cornified envelope and regulates keratin organisation in simple epithelial cells
  • with Involucrin, and EVPL, form the protein scaffold on which the cornified envelope assembles
  • arterial intima-enriched (AIE) gene, with periplakin, SPRR3, envoplakin, galectin 7, and plakoglobin that are functionally related in that they contribute to the stress properties of stratified epithelium
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterodimerises with EVPL via its rod domain
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with PKB
  • ANXA9 is a novel interacting partner for periplakin (PPL)N-terminus
  • cell & other
    REGULATION
    Other regulated by prolonged cyclic stress in vascular smooth muscle cells, which may have important implications to vascular disease
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS