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FLASH GENE
Symbol FERMT1 contributors: mct - updated : 19-01-2010
HGNC name fermitin family homolog 1 (Drosophila)
HGNC id 15889
Corresponding disease
KDLS Kindler syndrome
Location 20p12.3      Physical location : 6.055.492 - 6.104.191
Synonym name
  • kindlin 1
  • kindlerin
  • UNC-112 related protein 1
  • chromosome 20 open reading frame 42
  • kindlerin
  • Synonym symbol(s) FLJ20116, URP1, CT42, KIND1, DTGCU2, FLJ23423, C20orf42, UNC112A, FLJ23423
    DNA
    TYPE functioning gene
    STRUCTURE 48.70 kb     15 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 5167 77 677 - 2009 19804783
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificepithelial cell
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • NPKY domain
  • one PH domain
  • two C-terminal FERM domains, similar with that of talin, and typically composed of F1, F2, and F3 domains (F1 domain contains an even larger insert than that in talin F1 that disrupts the sequence alignment)
  • HOMOLOGY
    interspecies homolog to C elegans Unc-112
    ortholog to murine 5830467P10Rik
    intraspecies homolog to PLEKHC1
    Homologene
    FAMILY
  • kindlin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text intracellular protein that may be linked to plasma membrane
    basic FUNCTION
  • involved in cell adhesion processes via integrin signaling
  • playing a role in linking the actin cytoskeleton to the extracellular matrix
  • playing a major role in maintaining epithelial integrity
  • playing a role in mediating cell processes that depend on integrins
  • cytoplasmic component of cell–ECM adhesions that bind to beta-integrin cytoplasmic tails directly and cooperate with talin in integrin activation
  • essential role for integrin signalling and cell–ECM adhesion regulation
  • epithelial-specific member of the novel kindlin protein family, which are regulators of integrin functions
  • focal adhesion proteins implicated in integrin activation (Pubmed 19854292)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds directly to the C terminal region of beta integrin cytoplasmic tails and exerts intergrin-specific activation effects
  • interact with many components of cell–ECM adhesions—such as migfilin and integrin-linked kinase-to promote cytoskeletal reorganization
  • forms molecular complexes with beta1 integrin, alpha-actinin, migfilin, and focal adhesion kinase and regulates cell shape and migration by controlling lamellipodia formation
  • cell & other
    REGULATION
    induced by TGF-beta 1
    ASSOCIATED DISORDERS
    corresponding disease(s) KDLS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in some colon and lung carcinomas
    Susceptibility
    Variant & Polymorphism SNP four variants positions occur in the protein coding region and one results in a missense mutation (R425)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS