Property Summary

NCBI Gene PubMed Count 53
Grant Count 5
R01 Count 5
Funding $480,618.33
PubMed Score 85.79
PubTator Score 102.45

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9BQL6 D3DW10 Q8IX34 Q8IYH2 Q9NWM2 Q9NXQ3
Symbols URP1
KIND1
DTGCU2
UNC112A
C20orf42

Gene

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.
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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.
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