Property Summary

NCBI Gene PubMed Count 53
PubMed Score 85.79
PubTator Score 102.45

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (25)

Disease log2 FC p
malignant mesothelioma -4.700 7.3e-10
astrocytic glioma 3.500 1.2e-03
oligodendroglioma 3.700 2.8e-03
psoriasis 1.800 2.6e-88
osteosarcoma 1.804 1.2e-03
posterior fossa group B ependymoma 1.600 1.8e-07
glioblastoma 1.500 1.6e-03
cystic fibrosis 1.300 1.1e-05
medulloblastoma, large-cell 1.300 8.4e-05
adrenocortical carcinoma -1.162 3.0e-02
pancreatic ductal adenocarcinoma liver m... 2.115 2.0e-02
non-small cell lung cancer 3.298 2.1e-25
intraductal papillary-mucinous adenoma (... 2.800 1.3e-03
intraductal papillary-mucinous carcinoma... 2.400 9.2e-03
intraductal papillary-mucinous neoplasm ... 3.600 3.9e-03
lung cancer 3.700 8.4e-06
colon cancer 2.000 2.1e-03
pancreatic cancer 1.900 4.9e-07
interstitial cystitis -3.600 2.2e-05
lung adenocarcinoma 1.900 8.6e-10
adult high grade glioma 1.700 2.5e-04
pilocytic astrocytoma 2.700 2.0e-08
nasopharyngeal carcinoma 1.900 3.4e-05
Breast cancer -2.000 2.0e-09
ovarian cancer -1.300 9.6e-05

Gene RIF (45)

PMID Text
26083552 FERMT1 mutation causing Kindler syndrome.
25599393 A spectrum of FERMT1 mutations in 13 Iranian families with a diagnosis of Kindler syndrome have been ascertained.
25592379 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.
25591451 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.
25156791 we show that a certain number of KS patients may harbor FERMT1 transcriptional regulatory mutations which are not routinely detected.
24635080 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
24165133 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.
23804033 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.
23776470 Data uncover a role for kindlin-1 in the regulation of integrin trafficking and adhesion turnover.
23549420 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.
23440354 Kindlin-1 expression is involved in the progression of pancreatic cancer via enhancement of cell migration and invasion.
23278235 Individuals with Kindler syndrome (KS) have loss-of-function mutations in the FERMT1 gene
23267142 the results of this study indicate that FERMT1 is expressed specifically in colon carcinoma cells, and has roles in matrix invasion and cell growth
23209705 Kindlin-1 and Kindlin-2 have opposite roles in lung cancers
22220914 Direct sequencing of the FERMT1 gene revealed a homozygous insertion of cytosine at position 676 (c.676insC) in exon 5 in seven patients.
21936020 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 )
21832234 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.
21356350 The phenotype of kindlin-1-deficient cells can be modulated by regulating kindlin-2 gene expression and vice versa.
21336475 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.
21309038 Induction of phenotype modifying cytokines by FERMT1 mutations
21220475 FERMT1 is a novel prognostic factor for colon carcinoma.
21146372 In summary, we have described a recurrent splice-site deletion mutation in KIND1 in Kindler syndrome.
20306291 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20028441 A novel mutation in the FERMT1 gene in a Spanish family with Kindler's syndrome is reported.
19945623 Null mutations in FERMT1 result in skin blistering from birth and early childhood progressive poikiloderma, mucosal fragility, and increased risk of cancer
19854292 cellular functions and possible clinical relevance of kindlin-1 [REVIEW]
19804783 The authors demonstrate that the F0 domain of kindlin-1 is required for the ability of kindlin-1 to support talin-induced alphaIIbbeta3 integrin activation and for the localization of kindlin-1 to focal adhesions.
19762715 Kindlin-1 forms molecular complexes with beta1 integrin, alpha-actinin, migfilin, and focal adhesion kinase and regulates cell shape and migration by controlling lamellipodia formation.
19762710 This study provides evidence that fermitin family homolog-1 is implicated in integrin activation.
19292718 The study identified a novel large deletion mutation g.63601_66617del, which expanded the FERMT1 mutation repertoire.
19240021 Kindlin-1 and -2 directly bind the C-terminal region of beta integrin cytoplasmic tails and exert integrin-specific activation effects
19200189 skin changes on the extremities, face, and neck, including hyper- and hypopigmentation, atrophy, and telangiectasia in Kindler syndrome
18835760 A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome.
18652585 a splice site mutation in the first position of intron 13 of the FERMT1 gene caused skipping of exon 13.
18528435 Loss-of-function mutations in KIND1 result in marked variability in kindlin-1 immunolabeling in Kindler syndrome skin, which is mirrored by similar changes in kindlin-2 and migfilin immunoreactivity.
17989907 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.
17916195 The KIND1 mutation c.67insC represents the most common recurrent pathogenic gene mutation in patients with KS.
17460733 analysis of KIND1 gene mutations in Kindler syndrome [case reports]
17178989 Kindlin-1 links the actin cytoskeleton to the extracellular matrix and is supposed to have cell-signaling functions owing to different functional domains.
17012746 Kindlin-1 has roles in regulation of polarity, proliferation, and motility of epidermal keratinocytes
16675959 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
16051467 Mutated at intron 13 in Kindler syndrome.
15927810 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.
14962093 loss-of-function KIND1 mutations demonstrate the importance of kindlin-1 in maintaining epithelial integrity
14634021 kindlerin has a role in mediating cell processes that depend on integrins

AA Sequence

MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQINISQDWSDFALWWEQKHCWL      1 - 70
LKTHWTLDKYGVQADAKLLFTPQHKMLRLRLPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLK     71 - 140
PSGDYFKKKKKKDKNNKEPIIEDILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSP    141 - 210
LTEQNCSILAFSQPPQSPEALADMYQPRSLVDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDL    211 - 280
NPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDEIEAALSNL    281 - 350
EVTLEGGKADSLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNL    351 - 420
RGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASKGKTMADSSYQPEVLNIL    421 - 490
SFLRMKNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAHQNVAQMPLVEAKLRFIQAWQ    491 - 560
SLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIPVTTWRFTNIKQWNVNWETRQVVIEFDQNVF    561 - 630
TAFTCLSADCKIVHEYIGGYIFLSTRSKDQNETLDEDLFHKLTGGQD                           631 - 677
//

Text Mined References (58)

PMID Year Title
26083552 2015 A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.
25599393 2015 The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
25592379 2015 Expression of Kindlin-1 in human hepatocellular carcinoma and its prognostic significance.
25591451 2015 Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm.
25156791 2015 FERMT1 promoter mutations in patients with Kindler syndrome.
24635080 2014 New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.
24556642 2014 Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
24165133 2013 Kindlin binds migfilin tandem LIM domains and regulates migfilin focal adhesion localization and recruitment dynamics.
23804033 2013 Kindlin-1 regulates mitotic spindle formation by interacting with integrins and Plk-1.
23776470 2013 Kindlin-1 regulates integrin dynamics and adhesion turnover.
23549420 2013 Kindlin-1 mutant zebrafish as an in vivo model system to study adhesion mechanisms in the epidermis.
23440354 2013 Kindlin-1 expression is involved in migration and invasion of pancreatic cancer.
23278235 2013 Induction of senescence pathways in Kindler syndrome primary keratinocytes.
23267142 2013 Expression and function of FERMT genes in colon carcinoma cells.
23209705 2012 Opposite role of Kindlin-1 and Kindlin-2 in lung cancers.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22220914 2012 Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan.
21936020 2011 Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
21832234 2011 Role of the focal adhesion protein kindlin-1 in breast cancer growth and lung metastasis.
21356350 2011 Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification.
21336475 2011 Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
21309038 2011 Induction of phenotype modifying cytokines by FERMT1 mutations.
21269460 2011 Initial characterization of the human central proteome.
21220475 2011 Digital transcript profile analysis with aRNA-LongSAGE validates FERMT1 as a potential novel prognostic marker for colon cancer.
21146372 2011 Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome.
20306291 2010 A three-stage genome-wide association study of general cognitive ability: hunting the small effects.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20028441 2010 A novel mutation in the FERMT1 gene in a Spanish family with Kindler's syndrome.
19945623 2010 Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function.
19854292 2010 The role of kindlins in cell biology and relevance to human disease.
19804783 2009 The structure of the N-terminus of kindlin-1: a domain important for alphaiibbeta3 integrin activation.
19762715 2009 Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.
19762710 2009 Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.
19292718 2009 A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome.
19240021 2009 Kindlin-1 and -2 directly bind the C-terminal region of beta integrin cytoplasmic tails and exert integrin-specific activation effects.
19200189 2009 Kindler syndrome: report of three cases in a family and a brief review.
18835760 2008 A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18652585 2008 C-terminally truncated kindlin-1 leads to abnormal adhesion and migration of keratinocytes.
18528435 2008 Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.
17989907 2007 Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement.
17916195 2007 Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.
17460733 2007 Five new homozygous mutations in the KIND1 gene in Kindler syndrome.
17178989 2006 Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.
17012746 2006 Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes.
16675959 2006 Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
16051467 2005 Neonatal diagnosis of Kindler syndrome.
15927810 2005 Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14962093 2004 Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14634021 2004 The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion.
12789646 2003 Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
12697302 2003 URP1: a member of a novel family of PH and FERM domain-containing membrane-associated proteins is significantly over-expressed in lung and colon carcinomas.
12668616 2003 Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.