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FLASH GENE
Symbol KRT14 last update : 24/09/2008
HGNC name keratin 14
HGNC id 6416
Corresponding disease
EBS2B epidermolysis bullosa simplex, generalized other
EBS3B epidermolysis bullosa simplex, localized
EBS5B epidermolysis bullosa herpetiformis, Dowling-Meara type
Location 17q12-q21
Synonym name
  • cytokeratin 14
  • keratin, type I cytoskeletal 14
  • keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
    • Synonym symbol(s) K14, CK14, EBS3, EBS4, NFJ
    DNA RNA EXP/sub-loc PROTEIN PATHOLOGY
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 4.61 kb     8 Exon(s)    3 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • at least one pseudogene has been identified at 17p12-p11
  • clustered with KRT16 and KRT17
    • MAPPING cloned Y linked N status confirmed
    Map 5' - KRT19 - KRT15 - KRT17 - KRT16 - KRT14 - 3'
    Authors Milisavljevic (96)
    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
    kDaAAspecific expressionauthor
    KRT14 8 - 1653
    51.6 472 - -
    -
    EXPRESSION / SUBCELLULAR LOCALIZATION
    EXPRESSION (based on citations) widely
       expressed in
    organ(s)
    SystemOrgan 1organ 2organ 3organ 4level
    Digestiveesophagus   moderately
     mouthtongue  moderately
     pharynx   predominantly
    Endocrinethyroid   moderately
    Nervousbrain   moderately
     nervecranial nerve  lowly
    Reproductivefemale systemplacenta  lowly
     female systembreastmammary gland lowly
     male systemprostate  moderately
    Respiratoryrespiratory tractlarynx  predominantly
    Skin/Tegumentskin   highly
    Urinarybladder   highly
    Visualeye   lowly
    tissue
    SystemTissueS_TissueSs_Tissuelevel
    Epithelialbarrier/lining  moderately
    cells
    SystemCell
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    PROTEIN
    PHYSICAL PROPERTIES acid
    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)
  • flanked by the homology domain H1
  • by variable region (V1, V2)
  • end sequences (E1, E2)
    • secondary structure . four helical domains (1A,1B,2A,2B) . non alpha helical linkers (L1, 2, 3)
    mono polymer heteromer , dimer , tetramer
    HOMOLOGY
    interspecies
     
    		 homolog to rattus Krt1-14 (92.01 pc)
    homolog to murine Krt14 (92.93 pc)
    intraspecies
     
    Homologene
    FAMILY
  • intermediate filament family
  • type I keratin family
    • CATEGORY structural protein
    basic FUNCTION
  • forming the cytoskeleton of epithelial cells
    • implicated in a
    process
    cellular process
    physiological development
    text epidermis development
    pathway
    metabolism
    signaling
    a component
    structural
  • heterotetramer of two type I and two type II keratins
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • KRT5
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EBS2B , EBS3B , EBS5B
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     over  
    in gastric cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Therapy target treatments based on thyroid hormone and IFN-gamma that suppress promoter activity could become effective agents in therapy for patients with EBS (epidermolysis bullosa simplex)
    animal or cellular model