Description
Antibody Name: | FERMT1 Antibody (PACO58528) |
Antibody SKU: | PACO58528 |
Size: | 50ug |
Host Species: | Rabbit |
Tested Applications: | ELISA, IHC, IF |
Recommended Dilutions: | ELISA:1:2000-1:10000, IHC:1:500-1:1000, IF:1:200-1:500 |
Species Reactivity: | Human |
Immunogen: | Recombinant Human Fermitin family homolog 1 protein (321-420AA) |
Form: | Liquid |
Storage Buffer: | Preservative: 0.03% Proclin 300 Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 |
Purification Method: | >95%, Protein G purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
IHC image of PACO58528 diluted at 1:800 and staining in paraffin-embedded human colon cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system. | |
Immunofluorescence staining of Hela cells with PACO58528 at 1:266, counter-stained with DAPI. The cells were fixed in 4% formaldehyde, permeabilized using 0.2% Triton X-100 and blocked in 10% normal Goat Serum. The cells were then incubated with the antibody overnight at 4°C. The secondary antibody was Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L). |
Background: | 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-β 1 signaling in tumor progression. |
Synonyms: | Fermitin family homolog 1 (Kindlerin) (Kindlin syndrome protein) (Kindlin-1) (Unc-112-related protein 1), FERMT1, C20orf42 KIND1 URP1 |
UniProt Protein Function: | kindlin-1: 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. Defects in FERMT1 are the cause of Kindler syndrome (KINDS). 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. 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). Belongs to the kindlin family. 4 isoforms of the human protein are produced by alternative splicing.Protein type: Cytoskeletal; Motility/polarity/chemotaxisChromosomal Location of Human Ortholog: 20p12.3Cellular Component: cell junction; cytosolBiological Process: cell adhesion; keratinocyte migration; keratinocyte proliferationDisease: Kindler Syndrome |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009] |
UniProt Code: | Q9BQL6 |
NCBI GenInfo Identifier: | 26392456 |
NCBI Gene ID: | 55612 |
NCBI Accession: | Q9BQL6.1 |
UniProt Secondary Accession: | Q9BQL6,Q8IX34, Q8IYH2, Q9NWM2, Q9NXQ3, D3DW10 |
UniProt Related Accession: | Q9BQL6 |
Molecular Weight: | 56,516 Da |
NCBI Full Name: | Fermitin family homolog 1 |
NCBI Synonym Full Names: | fermitin family member 1 |
NCBI Official Symbol: | FERMT1 |
NCBI Official Synonym Symbols: | URP1; KIND1; DTGCU2; UNC112A; C20orf42 |
NCBI Protein Information: | fermitin family homolog 1 |
UniProt Protein Name: | Fermitin family homolog 1 |
UniProt Synonym Protein Names: | Kindlerin; Kindlin syndrome protein; Kindlin-1; Unc-112-related protein 1 |
Protein Family: | Fermitin family |
UniProt Gene Name: | FERMT1 |
UniProt Entry Name: | FERM1_HUMAN |