6ajl: Difference between revisions
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The entry | ==DOCK7 mutant I1836Y complexed with Cdc42== | ||
<StructureSection load='6ajl' size='340' side='right'caption='[[6ajl]], [[Resolution|resolution]] 3.23Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[6ajl]] is a 8 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6AJL OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6AJL FirstGlance]. <br> | |||
</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[6aj4|6aj4]]</td></tr> | |||
[[Category: | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6ajl FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6ajl OCA], [http://pdbe.org/6ajl PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6ajl RCSB], [http://www.ebi.ac.uk/pdbsum/6ajl PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6ajl ProSAT]</span></td></tr> | ||
</table> | |||
== Disease == | |||
[[http://www.uniprot.org/uniprot/DOCK7_HUMAN DOCK7_HUMAN]] Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome. The disease is caused by mutations affecting the gene represented in this entry. | |||
== Function == | |||
[[http://www.uniprot.org/uniprot/DOCK7_HUMAN DOCK7_HUMAN]] Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity).[UniProtKB:Q8R1A4]<ref>PMID:16982419</ref> [[http://www.uniprot.org/uniprot/CDC42_HUMAN CDC42_HUMAN]] Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase. Plays a role in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia. Mediates CDC42-dependent cell migration.<ref>PMID:14978216</ref> <ref>PMID:15642749</ref> <ref>PMID:17038317</ref> | |||
== References == | |||
<references/> | |||
__TOC__ | |||
</StructureSection> | |||
[[Category: Large Structures]] | |||
[[Category: Kukimoto-Niino, M]] | |||
[[Category: Shirouzu, M]] | |||
[[Category: Cdc42]] | |||
[[Category: Dhr-2]] | |||
[[Category: Dock]] | |||
[[Category: Gef]] | |||
[[Category: Gtpase]] | |||
[[Category: Mutant]] | |||
[[Category: Rac]] | |||
[[Category: Rho]] | |||
[[Category: Signaling protein]] | |||
Revision as of 10:45, 20 March 2019
DOCK7 mutant I1836Y complexed with Cdc42DOCK7 mutant I1836Y complexed with Cdc42
Structural highlights
Disease[DOCK7_HUMAN] Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome. The disease is caused by mutations affecting the gene represented in this entry. Function[DOCK7_HUMAN] Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 'Ser-15' phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity).[UniProtKB:Q8R1A4][1] [CDC42_HUMAN] Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase. Plays a role in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia. Mediates CDC42-dependent cell migration.[2] [3] [4] References
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