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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.
基因功能參考文獻:
Kindlin-1 is mainly expressed in the cytoplasm of normal esophageal squamous epithelium and Esophageal cancer (EC) cells. Kindlin-1 expression is positively correlated with tumor cell differentiation and is higher in stage I tumors. Kindlin-1 expression is higher in non-smoker patients than in smoker patients, and in patients with a family history of EC. PMID: 28667517
Kindlin supports platelet GPIIB IIIA activation by interacting with paxillin. PMID: 28954813
we demonstrated that Kindlin-1 promotes CRC progression by recruiting SARA and Smad3 to TbetaRI and thereby activates TGF-beta/Smad3 signaling. Thus, Kindlin-1 is a novel regulator of TGF-beta/Smad3 signaling and may also be a potential target for CRC therapeutics. PMID: 27776350
Sequence analysis of KIND1 exons in patient 1 revealed a commonly reported homozygous nonsense mutation in exon 6 (c.811C>T;p.R271X). Both Patients 2 and 3 had novel homozygous single nucleotide deletions PMID: 27862150
KS patients' periodontal disease activity could be taken under control with regular follow-up. PMID: 29168364
these data define a novel role for Kin1 in microtubule acetylation and stability PMID: 26993041
keratinocytes derived from KS patients are unable to undergo electrotaxis, and this defect is restored by overexpression of wild-type kindlin-1 but not a W612A mutation that prevents kindlin-integrin binding. PMID: 27427485
FERMT1 activates the beta-catenin transcriptional activity to promote EMT in CC metastasis. PMID: 27641329
KIND1 is important not only for keratinocyte proliferation but also for the suppression of UV-induced inflammation and DNA damage. PMID: 27725201
We show a direct relationship between kindlin-1 abundance and UV-B induced apoptosis in keratinocytes, whereas kindlin-2 overexpression has no compensatory effect. PMID: 27798104
These results indicate that Kindlin-1 is essential in EGF-induced re-epithelialization in skin wound healing and provide additional rationale for the clinical application of EGF in the treatment of acute wounds. PMID: 28290610
KS is caused by mutations in the FERMT1 gene. Including the present, more than 60 mutations in FERMT1 have been identified since 2003. In spite of the expanding FERMT1 mutation database, there seems to be a lack of a clear genotype-phenotype correlation in KS PMID: 25865288
A nonsense mutation in Exon 5 of KIND1 Gene in an Iranian Family may lead to incomplete and non-functional protein products and is pathogenic and has meaningful implications for the diagnosis of patients with Kindler syndrome. PMID: 27293055
we show that a certain number of KS patients may harbor FERMT1 transcriptional regulatory mutations which are not routinely detected. PMID: 25156791
Kindlin-1 is highly expressed in epithelial tissues derived from ectoderm and endoderm, whereas Kindlin-2 is mainly expressed in mesoderm-derived tissues. Likewise, Kindlin-1 was also found highly expressed in endoderm/ectoderm-derived tissues in embryos. PMID: 25591451
our data suggest that Kindlin-1 could play an important role in hepatocellular carcinoma and might serve as a promising prognostic marker and potential target for hepatocellular carcinoma therapy. PMID: 25592379
A spectrum of FERMT1 mutations in 13 Iranian families with a diagnosis of Kindler syndrome have been ascertained. PMID: 25599393
We identified a novel mutation in FERMT1. These data are in agreement with the fact that the majority of KS-causing mutations in FERMT1 lead to premature termination of translation and to loss of kindlin-1 function in Kindler sysndrome PMID: 24635080
C-terminal LIM domains of migfilin dictate its focal adhesion localization, and these domains mediate an interaction with kindlin in vitro and in cells, demonstrating that kindlin is important for normal migfilin dynamics. PMID: 24165133
Data uncover a role for kindlin-1 in the regulation of integrin trafficking and adhesion turnover. PMID: 23776470
Short interfering RNA-mediated depletion of Kindlin-1 increases formation of abnormal mitotic spindles which is dependent on the ability of Kindlin-1 to bind integrins and Polo-like kinase 1-mediated Kindlin-1 phosphorylation. PMID: 23804033
Individuals with Kindler syndrome (KS) have loss-of-function mutations in the FERMT1 gene PMID: 23278235
Whereas both Integrin-linked kinase (Ilk) and Kindlin-1 cooperate with Integrin alpha3beta1 to resist trauma-induced epidermal defects, Kindlin-1 and Ilk, surprisingly, do not act synergistically but in parallel. PMID: 23549420
Kindlin-1 expression is involved in the progression of pancreatic cancer via enhancement of cell migration and invasion. PMID: 23440354
Kindlin-1 and Kindlin-2 have opposite roles in lung cancers PMID: 23209705
the results of this study indicate that FERMT1 is expressed specifically in colon carcinoma cells, and has roles in matrix invasion and cell growth PMID: 23267142
Direct sequencing of the FERMT1 gene revealed a homozygous insertion of cytosine at position 676 (c.676insC) in exon 5 in seven patients. PMID: 22220914
There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications in Kindler syndrome ( FERMT1 ) PMID: 21936020
Kindlin-1 expression in breast tumors is associated with lung metastasis and lung metastasis-free survival through regulation of TGF-beta signaling. Kindlin-1-silencing prevented tumor growth and lung metastasis in mice. PMID: 21832234
FERMT1 is a novel prognostic factor for colon carcinoma. PMID: 21220475
Describe five novel and three recurrent loss-of-function FERMT1 mutations in eight individuals with Kindler syndrome, and provide an overview of genotype-phenotype correlation in this disorder. PMID: 21336475
Induction of phenotype modifying cytokines by FERMT1 mutations PMID: 21309038
The phenotype of kindlin-1-deficient cells can be modulated by regulating kindlin-2 gene expression and vice versa. PMID: 21356350
In summary, we have described a recurrent splice-site deletion mutation in KIND1 in Kindler syndrome. PMID: 21146372
A novel mutation in the FERMT1 gene in a Spanish family with Kindler's syndrome is reported. PMID: 20028441
cellular functions and possible clinical relevance of kindlin-1 [REVIEW] PMID: 19854292
Null mutations in FERMT1 result in skin blistering from birth and early childhood progressive poikiloderma, mucosal fragility, and increased risk of cancer PMID: 19945623
kindlerin has a role in mediating cell processes that depend on integrins PMID: 14634021
loss-of-function KIND1 mutations demonstrate the importance of kindlin-1 in maintaining epithelial integrity PMID: 14962093
Kindlin-1 is considered to be a component in the linkage of the actin cytoskeleton to the extracellular matrix and as such is proposed to have both structural and cell-signalling functions. Review. PMID: 15927810
Mutated at intron 13 in Kindler syndrome. PMID: 16051467
The abundance of repetitive elements in intronic regions of KIND1, together with the identification of a large deletion, suggests that genomic rearrangements could be responsible for a significant proportion of Kindler syndrome cases PMID: 16675959
Kindlin-1 has roles in regulation of polarity, proliferation, and motility of epidermal keratinocytes PMID: 17012746
Kindlin-1 links the actin cytoskeleton to the extracellular matrix and is supposed to have cell-signaling functions owing to different functional domains. PMID: 17178989
analysis of KIND1 gene mutations in Kindler syndrome [case reports] PMID: 17460733
The KIND1 mutation c.67insC represents the most common recurrent pathogenic gene mutation in patients with KS. PMID: 17916195
Two patients with Kindler Syndrome have mutations in KIND-1. In patient 1, there was a duplication of cytosine at position 676 in exon 5 of kindlin-1 mRNA. In patient 2, a novel mutation of exon 3 of KIND1 gene c.170C>A. PMID: 17989907
a splice site mutation in the first position of intron 13 of the FERMT1 gene caused skipping of exon 13. PMID: 18652585
A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. PMID: 18835760
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Kindler syndrome (KNDLRS)
亞細(xì)胞定位:
Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note=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.
蛋白家族:
Kindlin family
組織特異性:
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 tu