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Mouse Anti-FERMT1 (AA 180-270) Recombinant Antibody (CBXF-0501) (CBMAB-F0392-CQ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXF-0501
Antibody Isotype
IgG2a, κ
Application
ELISA, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG2a, κ
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.2
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 180-270

Target

Full Name
Fermitin Family Member 1
Introduction
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.
Entrez Gene ID
55612
UniProt ID
Q9BQL6
Alternative Names
Fermitin Family Member 1; Unc-112-Related Protein 1; Kindlin Syndrome Protein; Kindlin-1; Kindlerin; C20orf42; KIND1; URP1; Fermitin Family Homolog 1 (Drosophila);
Research Area
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.
Biological Process
Basement membrane organization Source: Ensembl
Cell adhesion Source: UniProtKB
Cell-matrix adhesion Source: GO_Central
Establishment of epithelial cell polarity Source: UniProtKB
Integrin-mediated signaling pathway Source: InterPro
Keratinocyte migration Source: UniProtKB
Keratinocyte proliferation Source: UniProtKB
Negative regulation of canonical Wnt signaling pathway Source: Ensembl
Negative regulation of gene expression Source: Ensembl
Negative regulation of protein import into nucleus Source: Ensembl
Negative regulation of stem cell proliferation Source: Ensembl
Negative regulation of timing of anagen Source: Ensembl
Positive regulation of cell adhesion mediated by integrin Source: Ensembl
Positive regulation of cell-matrix adhesion Source: Ensembl
Positive regulation of integrin activation Source: ARUK-UCL
Positive regulation of transforming growth factor beta production Source: Ensembl
Positive regulation of transforming growth factor beta receptor signaling pathway Source: Ensembl
Positive regulation of wound healing, spreading of epidermal cells Source: ARUK-UCL
Cellular Location
Cytoskeleton; Ruffle membrane; Focal adhesion. 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.
Involvement in disease
Kindler syndrome (KNDLRS):
The disease is caused by variants affecting the gene represented in this entry. 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).
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.
More Infomation

Ainiwan, M., Wang, Q., Yesitayi, G., & Ma, X. (2022). Identification of FERMT1 and SGCD as key marker in acute aortic dissection from the perspective of predictive, preventive, and personalized medicine. EPMA Journal, 1-18.

Li, L., Li, P., Zhang, W., Zhou, H., Guo, E., Hu, G., & Zhang, L. (2022). FERMT1 contributes to the migration and invasion of nasopharyngeal carcinoma through epithelial–mesenchymal transition and cell cycle arrest. Cancer cell international, 22(1), 1-14.

Mamoor, S. (2022). Elevated FERMT1 expression distinguishes basal-like human breast cancer.

Wang, X., & Chen, Q. (2021). FERMT1 knockdown inhibits oral squamous cell carcinoma cell epithelial-mesenchymal transition by inactivating the PI3K/AKT signaling pathway. BMC Oral Health, 21(1), 1-9.

Kawamura, E., Hamilton, G. B., Miskiewicz, E. I., & MacPhee, D. J. (2021). Examination of FERMT1 expression in placental chorionic villi and its role in HTR8-SVneo cell invasion. Histochemistry and Cell Biology, 155(6), 669-681.

Fan, H., Zhang, S., Zhang, Y., Liang, W., & Cao, B. (2020). FERMT1 promotes gastric cancer progression by activating the NF-κB pathway and predicts poor prognosis. Cancer biology & therapy, 21(9), 815-825.

Meng, L., Yang, X., Wu, Y., Zhao, Z., Yang, L., Li, M., ... & Zhang, G. (2020). A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome. Experimental and therapeutic medicine, 20(5), 1-1.

Valinotto, L. E., Natale, M. I., Lusso, S. B., Cella, E., Gutiérrez, O., Sebastiani, F., & Manzur, G. B. (2020). A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina. Pediatric Dermatology, 37(2), 337-341.

Yan, Q., Chen, T., Yang, H., Yu, H., Zheng, Y., He, T., & Wang, J. (2019). The effect of FERMT1 regulated by miR-24 on the growth and radiation resistance of esophageal cancer. Journal of Biomedical Nanotechnology, 15(3), 621-631.

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For research use only. Not intended for any clinical use.

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