6nh9
From Proteopedia
(Difference between revisions)
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| - | '''Unreleased structure''' | ||
| - | + | ==Crystal structure of a human calcium/calmodulin dependent serine protein kinase (CASK) PDZ domain== | |
| - | + | <StructureSection load='6nh9' size='340' side='right'caption='[[6nh9]], [[Resolution|resolution]] 1.85Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[6nh9]] is a 3 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6NH9 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6NH9 FirstGlance]. <br> | |
| - | + | </td></tr><tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Non-specific_serine/threonine_protein_kinase Non-specific serine/threonine protein kinase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.7.11.1 2.7.11.1] </span></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=6nh9 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6nh9 OCA], [http://pdbe.org/6nh9 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6nh9 RCSB], [http://www.ebi.ac.uk/pdbsum/6nh9 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6nh9 ProSAT]</span></td></tr> |
| + | </table> | ||
| + | == Disease == | ||
| + | [[http://www.uniprot.org/uniprot/CSKP_HUMAN CSKP_HUMAN]] Defects in CASK are the cause of mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:[http://omim.org/entry/300749 300749]]. A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Patients with mental retardation X-linked CASK-related can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of mental retardation alone or associated with nystagmus.<ref>PMID:19165920</ref> Defects in CASK are the cause of FG syndrome type 4 (FGS4) [MIM:[http://omim.org/entry/300422 300422]]. FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.<ref>PMID:19200522</ref> | ||
| + | == Function == | ||
| + | [[http://www.uniprot.org/uniprot/CSKP_HUMAN CSKP_HUMAN]] Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TRB1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. | ||
| + | == References == | ||
| + | <references/> | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Large Structures]] | ||
| + | [[Category: Non-specific serine/threonine protein kinase]] | ||
| + | [[Category: Fuentes, E J]] | ||
[[Category: Gakhar, L]] | [[Category: Gakhar, L]] | ||
| - | [[Category: Sun, Y | + | [[Category: Sun, Y J]] |
| - | [[Category: | + | [[Category: C-terminal peptide binding]] |
| + | [[Category: Maguk protein family]] | ||
| + | [[Category: Pdz domain]] | ||
| + | [[Category: Peripheral plasma membrane protein]] | ||
| + | [[Category: Protein binding]] | ||
Revision as of 09:08, 25 December 2019
Crystal structure of a human calcium/calmodulin dependent serine protein kinase (CASK) PDZ domain
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