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FLASH GENE
Symbol KRT81 contributors: mct/npt - updated : 30/10/2008
HGNC name keratin 81
HGNC id 6458
Corresponding disease
MNX monilethrix
Location 12q13      Physical location : 52.679.698 - 52.685.299
Synonym name
  • hard keratin type II 1
  • keratin, hair, basic, 1
  • keratin type II cuticular Hb1
    • Synonym symbol(s) HB1, KRTHB1, MLN137, ghHkb1, hHAKB2-1, HB-1, K81, K2.9
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 5.60 kb     9 Exon(s)
    MAPPING cloned Y linked   status provisional
    regionally located clustered with other basic keratins in a domain flanked by type II epithelial keratins, subcluster 1 (with KRTHB3, KRTHB6)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1926 54.8 505 - Schweizer (2006)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Reproductivefemale systembreastmammary gland highly
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumenthair follicle cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES basic
    STRUCTURE
    motifs/domains
  • N terminal cysteine-rich domain
  • a central rod domain composed of 4 alpha helical coiled coils repeats separated by linker region
  • a C terminal globular region
    • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • intermediate filament family
  • type II keratin family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • hair keratin found primarily in the hair cortex
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with KRTHA1
  • heterodimerizes with type I keratins to form hair and nails
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MNX
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS