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FLASH GENE
Symbol KRT17 contributors: mct/npt/pgu - updated : 28-03-2008
HGNC name keratin 17
HGNC id 6427
Corresponding disease
PC217 pachyonychia congenita type II
STM steatocystoma multiplex
Location 17q21.2      Physical location : 39.775.691 - 39.780.882
Synonym name
  • keratin, type I cytoskeletal 17
  • cytokeratin-17
  • pachyonychia congenita 1 (Jackson-Lawler type)
    • Synonym symbol(s) K17, PC, PC2, PCHC1, CK-17, 39.1
    DNA
    TYPE functioning gene
    STRUCTURE 5.12 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    KRTAP9P1 17q12-q21 keratin associated protein 9 pseudogene 1 LOC390794 17 similar to keratin associated protein 4-12; keratin associated protein 4.12 KRTAP16-1 17q12-q21 keratin associated protein 16-1 KRTAP17-1 17q12-q21 keratin associated protein 17-1 KRTHA3A 17q12-q21 keratin, hair, acidic, 3A KRTHA3B 17q12-q21 keratin, hair, acidic, 3B KRTHA4 17q12-q21 keratin, hair, acidic, 4 KRTHA1 17q12-q21 keratin, hair, acidic, 1 KRTHAP1 17q12-q21 keratin, hair, acidic, pseudogene 1 KRTHA7 17q12-q21 keratin, hair, acidic, 7 KRTHA8 17q12-q21 keratin, hair, acidic, 8 KRTHA2 17q12-q21 keratin, hair, acidic, 2 KRTHA5 17q12-q21 keratin, hair, acidic, 5 KRTHA6 17q12-q21 keratin, hair, acidic, 6 KRT13 17q21-q22 keratin 13 KRT15 17q21.2 keratin 15 KRT19 17q21 keratin 19 KRT9 17q21.1-q21.2 keratin 9 (epidermolytic palmoplantar keratoderma) KRT14 17q21-q22 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) KRT16 17q21-q22 keratin 16 (focal non-epidermolytic palmoplantar keratoderma) KRT17 17q21-q22 keratin 17 LOC388385 17 LOC388385 SUI1 17q21.31 putative translation initiation factor GAS 17q21-q21.2 gastrin HAP1 17q21.2-q21.3 huntingtin-associated protein 1 (neuroan 1) JUP 17q21 junction plakoglobin SC65 17q21.31 synaptonemal complex protein SC65 FKBP10 17q21.1 FK506 binding protein 10, 65 kDa MGC20781 17q21.31 hypothetical protein MGC20781 KLHL10 17q21.2 kelch-like 10 (Drosophila) FLJ10572 17q21.31 hypothetical protein FLJ10572 ACLY 17q21-q22 ATP citrate lyase
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1574 48.1 432 - 2007 17719747
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin appendagesnails   
     skin appendageshairfollicle  
     skin appendagesskin glandsebaceous gland  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved central rod domain
  • four helical domains (1A, 1B, 2A, 2B) interrupted by non alpha helical linkers (L1, 2, 3) and flanked by the homology domain H1
  • variable region (V1, V2) and end sequences (E1, E2)
    • mono polymer heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • intermediate filaments family
  • type I keratin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • may be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial "stem cells"
  • regulating cell growth through binding to the adaptor protein 14-3-3sigma
  • immunomodulatory role in Hedgehog driven basaloid skin tumors that could impact additional tumor settings, psoriasis and wound repair
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TNF (acting as two novel and interdependent regulators of hair cycling)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PC217 , STM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    dermatologyskin 
    potentially attractive target for new therapies aimed at curtailing conditions driven by or linked to chronic cutaneous inflammation
    ANIMAL & CELL MODELS