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FLASH GENE
Symbol KRT6A contributors: npt/mct - updated : 26-12-2006
HGNC name keratin 6A
HGNC id 6443
Corresponding disease
PC112 pachyonychia congenita, type 1
Location 12q13      Physical location : 52.880.958 - 52.887.181
Synonym name
  • 56 cytoskeletal type II keratin
  • keratin, epidermal type II, K6A
  • type II keratin isoform K6c
  • keratin 6C
  • keratin 6D
  • Synonym symbol(s) K6A, CK6A, K6D,CK6D, CK6C, K6C, KRT6D, KRT6C
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text clustered with other type II cytokeratins
    STRUCTURE 6.22 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2450 60 564 - Schweizer (2006)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    digestiveesophagus    
    Endocrinepancreas   highly
    Nervousbrain   highly
    Reproductivemale systemprostate  highly
    Skin/Tegumentskinpalm   
     skinsole   
     skin appendagesnails   
     skin appendageshairfollicle  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretorydigestive epithelium  
    Epithelialbarrier/lininguroepithelium  
    Epithelialsecretoryglandularexocrine 
    Epithelialsecretoryglandularendocrine 
    Epithelialsensorygustatory  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved central rod domain, made of four helical domains (1A, 1B, 2A, 2B) interrupted by non alpha helical linkers (L1, 2, 3)
  • the homology domains H1 and H2, by variable region (V1, V2), end sequences (E1, E2)
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to murine Krt2-6a
    homolog to C.elegans F58E10.3
    Homologene
    FAMILY
  • intermediate filament protein
  • type II keratin family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text expressed with family members KRT16 and/or KRT17
    basic FUNCTION
  • required for filament assembly
  • CELLULAR PROCESS cell life, proliferation/growth
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text
  • ectoderm development
  • cell shape and cell size control
  • PATHWAY
    metabolism
    signaling
    a component
  • dimerizing with KRT16, KRT17
  • heterodimer of a type I (acidic) and a type II (neutral to basic) keratin
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to KRT16, KRT17
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PC112
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    K6-null mice (Wong,2000)