Home Page
Orphanet References omim sequences swissprot Entrez Gene Source
HGNC genecards Ensembl Unigene
FLASH GENE
Symbol KRT5 last update : 04/10/2008
HGNC name keratin 5
HGNC id 6442
Corresponding disease
DDD Dowling-Degos disease
EBS2A epidermolysis bullosa simplex, generalized other
EBS3A epidermolysis bullosa simplex, localized
EBS5A epidermolysis bullosa herpetiformis, Dowling-Meara type
EBSMP epidermolysis bullosa simplex with mottled pigmentation
Location 12q13.2-q13.3
Synonym name
  • epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types
  • 58 kda cytokeratin
  • cytokeratin 5
    • Synonym symbol(s) EBS2, K5, CK5, KRT5A, DDD
    DNA RNA EXP/sub-loc PROTEIN PATHOLOGY
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text type II cytokeratins are clustered in a region of chromosome 12q12-q13
    STRUCTURE 5.90 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    NR4A1 12q13 nuclear receptor subfamily 4, group A, member 1 FLJ11773 12q13.13 hypothetical protein FLJ11773 OR7E47P 12q13.13 olfactory receptor, family 7, subfamily E, member 47 pseudogene LOC144501 12q13.13 hypothetical protein LOC144501 LOC283403 12q13.13 hypothetical protein LOC283403 KRT7 12q13 keratin 7 KRTHBP4 12q13 keratin, hair, basic, pseudogene 4 KRTHBP3 12q13 keratin, hair, basic, pseudogene 3 LOC387859 12 LOC387859 KRTHB1 12q13 keratin, hair, basic, 1 KRTHB6 12q13 keratin, hair, basic, 6 (monilethrix) KRTHB3 12q13 keratin, hair, basic, 3 KRTHBP2 12q13 keratin, hair, basic, pseudogene 2 KRTHB5 12q13 keratin, hair, basic, 5 KRTHB4 12q13 keratin, hair, basic, 4 KRTHB2 12q13 keratin, hair, basic, 2 KRTHBP1 12q13 keratin, hair, basic, pseudogene 1 K6HF 12q13 cytokeratin type II KRT6B 12q13.1-q13.2 keratin 6B KRT6E 12q13.13 keratin 6E KRT6A 12q13 keratin 6A KRT6C 12q12-q13 keratin 6C KRT5 12q13.2-q13.3 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) KRT6IRS 12q13.13 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) K6IRS4 12q13.13 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) K6IRS2 12q13.13 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) K6IRS3 12q13.3 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) KRT2A 12q13.1-q13.2 keratin 2A (epidermal ichthyosis bullosa of Siemens) KRT1 12q13 keratin 1 (epidermolytic hyperkeratosis) LOC387860 12 similar to keratin 1b LOC341409 12q13.13 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 LOC387861 12 similar to K+ channel tetramerization protein HUMCYT2A 12q13.13 cytokeratin 2 KRT3 12q13 keratin 3 KRT4 12q13 keratin 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    kDaAAspecific expressionauthor
    KRT5 9 - 2320
    62.4 590 - Schweizer (2006)
    -
    EXPRESSION / SUBCELLULAR LOCALIZATION
    EXPRESSION (based on citations) widely
       expressed in
    organ(s)
    SystemOrgan 1organ 2organ 3organ 4level
    Digestiveesophagus   highly
     mouth   highly
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin    
    tissue
    SystemTissueS_TissueSs_Tissuelevel
    Epithelialbarrier/lining   
    cells
    SystemCell
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved central rod domain, made of four helical domains (1A, 1B, 2A, 2B)
  • non alpha helical linkers (L1,2,3) and flanked by the homology domains H1 and H2, by variable region (V1,V2) and end sequences (E1, E2)
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies
     
    intraspecies
     
    Homologene
    FAMILY
  • intermediate filament family
  • type II keratin family
    • CATEGORY structural protein
    basic FUNCTION
  • consisting of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues
    • implicated in a
    process
    cellular process
    physiological
    pathway
    metabolism
    signaling
    a component
    structural
  • heterotetramer of two type I and two type II keratins
  • associated with keratin 14
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EBS2A , EBS3A , EBS5A , EBSMP , DDD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Therapy target
    animal or cellular model