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Yorodumi- SASDB42: Human Filamin A Ig-like domains 16-17* truncation (1782-1956) L17... -
+Open data
-Basic information
Entry | Database: SASBDB / ID: SASDB42 |
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Sample | Human Filamin A Ig-like domains 16-17* truncation (1782-1956) L1788R patient mutation
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Function / homology | Function and homology information regulation of membrane repolarization during atrial cardiac muscle cell action potential / regulation of membrane repolarization during cardiac muscle cell action potential / establishment of Sertoli cell barrier / Myb complex / glycoprotein Ib-IX-V complex / formation of radial glial scaffolds / adenylate cyclase-inhibiting dopamine receptor signaling pathway / positive regulation of integrin-mediated signaling pathway / tubulin deacetylation / cytoplasmic sequestering of protein ...regulation of membrane repolarization during atrial cardiac muscle cell action potential / regulation of membrane repolarization during cardiac muscle cell action potential / establishment of Sertoli cell barrier / Myb complex / glycoprotein Ib-IX-V complex / formation of radial glial scaffolds / adenylate cyclase-inhibiting dopamine receptor signaling pathway / positive regulation of integrin-mediated signaling pathway / tubulin deacetylation / cytoplasmic sequestering of protein / actin crosslink formation / blood coagulation, intrinsic pathway / protein localization to bicellular tight junction / OAS antiviral response / positive regulation of actin filament bundle assembly / positive regulation of neuron migration / positive regulation of potassium ion transmembrane transport / Cell-extracellular matrix interactions / early endosome to late endosome transport / apical dendrite / Fc-gamma receptor I complex binding / cell-cell junction organization / positive regulation of neural precursor cell proliferation / positive regulation of platelet activation / protein localization to cell surface / wound healing, spreading of cells / negative regulation of transcription by RNA polymerase I / megakaryocyte development / GP1b-IX-V activation signalling / cortical cytoskeleton / positive regulation of axon regeneration / receptor clustering / SMAD binding / actin filament bundle / RHO GTPases activate PAKs / brush border / semaphorin-plexin signaling pathway / mitotic spindle assembly / cilium assembly / potassium channel regulator activity / epithelial to mesenchymal transition / blood vessel remodeling / axonal growth cone / heart morphogenesis / positive regulation of substrate adhesion-dependent cell spreading / release of sequestered calcium ion into cytosol / regulation of cell migration / dendritic shaft / protein localization to plasma membrane / mRNA transcription by RNA polymerase II / negative regulation of protein catabolic process / G protein-coupled receptor binding / actin filament / protein kinase C binding / kinase binding / synapse organization / trans-Golgi network / establishment of protein localization / negative regulation of DNA-binding transcription factor activity / cerebral cortex development / platelet aggregation / small GTPase binding / Z disc / actin filament binding / positive regulation of protein import into nucleus / cell-cell junction / actin cytoskeleton / negative regulation of neuron projection development / Platelet degranulation / GTPase binding / positive regulation of canonical NF-kappaB signal transduction / actin cytoskeleton organization / DNA-binding transcription factor binding / perikaryon / angiogenesis / transmembrane transporter binding / postsynapse / protein stabilization / cadherin binding / focal adhesion / glutamatergic synapse / negative regulation of apoptotic process / nucleolus / perinuclear region of cytoplasm / protein homodimerization activity / RNA binding / extracellular exosome / extracellular region / membrane / nucleus / plasma membrane / cytoplasm / cytosol Similarity search - Function |
Biological species | Homo sapiens (human) |
Citation | Date: 2017 Dec Title: Skeletal Dysplasia Mutations Effect on Human Filamins’ Structure and Mechanosensing Authors: Seppälä J / Bernardi R / Haataja T / Hellman M / Pentikäinen O / Schulten K / Permi P / Ylänne J |
Contact author |
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-Structure visualization
Structure viewer | Molecule: MolmilJmol/JSmol |
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-Downloads & links
-Data source
SASBDB page | SASDB42 |
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-Related structure data
Related structure data | C: citing same article (ref.) |
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Similar structure data |
-External links
Related items in Molecule of the Month |
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-Models
Model #383 | Type: dummy / Radius of dummy atoms: 2.00 A / Chi-square value: 1.400 / P-value: 0.000005 Search similar-shape structures of this assembly by Omokage search (details) |
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-Sample
Sample | Name: Human Filamin A Ig-like domains 16-17* truncation (1782-1956) L1788R patient mutation Specimen concentration: 1.00-5.00 |
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Buffer | Name: 20 mM Tris 50 mM NaCl 10 mM DTT / Concentration: 20.00 mM / Composition: 50mM NaCl, 10mM DTT |
Entity #247 | Name: FilaminA* / Type: protein / Description: Human Filamin A Ig-like domains 16-17* / Formula weight: 18.7 / Num. of mol.: 1 / Source: Homo sapiens / References: UniProt: P21333 Sequence: GLDVTSRRPF DLVIPFTIKK GEITGEVRMP SGKVAQPTIT DNKDGTVTVR YAPSEAGLHE MDIRYDNMHI PGSPLQFYVD YVNCGHVTAY GPGLTHGVVN KPATFTVNTK DAGEGGLSLA IEGPSKAEIS CTDNQDGTCS VSYLPVLPGD YSILVKYNEQ HVPGSPFTAR VTGDD |
-Experimental information
Beam | Instrument name: ESRF BM29 / City: Grenoble / 国: France / Type of source: X-ray synchrotron / Wavelength: 0.93 Å / Dist. spec. to detc.: 2.43 mm | |||||||||||||||||||||||||||||||||
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Detector | Name: Pilatus 1M | |||||||||||||||||||||||||||||||||
Scan | Title: Human Filamin A Ig-like domains 16-17* L1788R / Measurement date: Sep 30, 2013 / Storage temperature: 20 °C / Cell temperature: 20 °C / Exposure time: 1 sec. / Number of frames: 10 / Unit: 1/nm /
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Distance distribution function P(R) | Sofotware P(R): GNOM 4.5a / Number of points: 366 /
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Result | Type of curve: merged
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