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FLASH GENE
Symbol PERP contributors: shn - updated : 05-03-2019
HGNC name PERP, TP53 apoptosis effector
HGNC id 17637
Location 6q23.3      Physical location : 138.409.641 - 138.428.660
Synonym name
  • keratinocytes associated protein 1
  • keratinocyte-associated protein 1
  • p53 apoptosis effector related to PMP-22
  • p53 apoptosis effector related to PMP22
  • p53-induced protein PIGPC1
  • transmembrane protein THW
    • Synonym symbol(s) PIGPC1, dJ496H19.1, KCP1, KCP-1, THW, KRTCAP1
    DNA
    TYPE functioning gene
    STRUCTURE 16.00 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D6S1626 - D6S292 - PERP - D6S1569 - D6S1699 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 4319 - 193 - -
    3 - 4319
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveesophagus    
     mouthtongue  highly
     stomach    
    Reproductivefemale systemuteruscervix  
     female systembreastmammary gland  
     male systemprostate   
    Respiratoryrespiratory tracttrachea   
    Urinarybladder   predominantly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four putative transmembrane domains
  • two extracellular domains
  • three cytoplasmic domains
    • HOMOLOGY
    interspecies ortholog to Perp, Mus musculus
    ortholog to Perp, Rattus norvegicus
    ortholog to perp, Danio rerio
    Homologene
    FAMILY
  • tetraspan membrane protein
    • CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION
    text localizes specifically to desmosomes (
    basic FUNCTION
  • tumor suppressor gene activity
  • playing a role in promoting the stable assembly of desmosomal adhesive complexes
  • a key effector in the p63 developmental program, playing an essential role in an adhesion subprogram central to epithelial integrity and homeostasis (
  • regulates enamel formation and necessary for the integrity of the ameloblast-stratum intermedium interface (
  • is a component of the desmosomes, multiprotein complexes involved in cell-to-cell adhesion
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text essential for epithelial integrity
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in the metastating mammary carcinoma and pancreas cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Perp-/- mice die postnatally, with dramatic blistering in stratified epithelia symptomatic of compromised adhesion (
  • Perp-null mice display dramatic enamel defects due to the detachment of ameloblasts from the stratum intermedium (