Overview

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQI NISQDWSDFALWWEQKHCWLLKTHWTLDKYGVQADAKLLFTPQHKMLRLR LPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKK KKDKNNKEPIIEDILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPAS STMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSLVDKAKLNAGW LDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAI LLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDEIEAALSNL EVTLEGGKADSLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTS IAYFKNKELEQGEPLEKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNE MYLRCDHENQYAQWMAACMLASKGKTMADSSYQPEVLNILSFLRMKNRNS ASQVASSLENMDMNPECFVSPRCAKKHKSKQLAARILEAHQNVAQMPLVE AKLRFIQAWQSLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIP VTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADCKIVHEYIGGY IFLSTRSKDQNETLDEDLFHKLTGGQD
    • Molecular weight

      104 kDa including tags
    • Amino acids

      1 to 677

Associated products

Specifications

Our Abpromise guarantee covers the use of ab132290 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 µg/µl.
    Best use within three months from the date of receipt of this protein.

     This product was previously labelled as Kindlin

     

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • C20orf42
    • Chromosome 20 open reading frame 42
    • DTGCU 2
    • DTGCU2
    • FERM1_HUMAN
    • Fermitin family homolog 1
    • Fermitin family member 1
    • Fermt1
    • FLJ20116
    • FLJ23423
    • KIND 1
    • KIND1
    • Kinderlin
    • Kindlerin
    • Kindlin 1
    • Kindlin syndrome protein
    • Kindlin-1
    • Kindlin1
    • Unc 112 related protein 1
    • Unc-112-related protein 1
    • Unc112 related protein
    • UNC112A
    • URP 1
    • URP1
    see all
  • Function

    Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression.
  • Tissue specificity

    Expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta. Weakly or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood leukocytes. Overexpressed in some colon and lung tumors. In skin, it is localized within the epidermis and particularly in basal keratocytes. Not detected in epidermal melanocytes and dermal fibroblasts.
  • Involvement in disease

    Defects in FERMT1 are the cause of Kindler syndrome (KINDS) [MIM:173650]. An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy. Note=Although most FERMT1 mutations are predicted to lead to premature termination of translation, and to loss of FERMT1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications (PubMed:21936020).
  • Sequence similarities

    Belongs to the kindlin family.
    Contains 1 FERM domain.
    Contains 1 PH domain.
  • Domain

    The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain. The FERM domain contains the subdomains F1, F2 and F3. It is preceded by a F0 domain with a ubiquitin-like fold. The F0 domain is required for integrin activation and for localization at focal adhesions.
  • Cellular localization

    Cytoplasm > cytoskeleton. Cell junction > focal adhesion. Cell projection > ruffle membrane. Constituent of focal adhesions. Localized at the basal aspect of skin keratinocytes, close to the cell membrane. Colocalizes with filamentous actin. Upon TGFB1 treatment, it localizes to membrane ruffles.
  • Information by UniProt

Images

  • 12.5% SDS-PAGE stained with Coomassie Blue showing ab132290.

References

ab132290 has not yet been referenced specifically in any publications.

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