Recombinant Human Kindlin protein (ab153403)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      PGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPE ALADMYQPRSLVDKAKLNAGWLDSSRSLMEQGIQEDEQLL
    • Amino acids
      180 to 269
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab153403 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • 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

  • ab153403 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab153403 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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