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5y4m
From Proteopedia
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| - | '''Unreleased structure''' | ||
| - | + | ==Discoidin domain of human CASPR2== | |
| - | + | <StructureSection load='5y4m' size='340' side='right' caption='[[5y4m]], [[Resolution|resolution]] 1.31Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | + | <table><tr><td colspan='2'>[[5y4m]] is a 1 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5Y4M OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5Y4M FirstGlance]. <br> | |
| - | + | </td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=EDO:1,2-ETHANEDIOL'>EDO</scene></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=5y4m FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5y4m OCA], [http://pdbe.org/5y4m PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5y4m RCSB], [http://www.ebi.ac.uk/pdbsum/5y4m PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5y4m ProSAT]</span></td></tr> |
| + | </table> | ||
| + | == Disease == | ||
| + | [[http://www.uniprot.org/uniprot/CNTP2_HUMAN CNTP2_HUMAN]] Pitt-Hopkins-like syndrome;Autism;Cortical dysplasia - focal epilepsy syndrome. Disease susceptibility is associated with variations affecting the gene represented in this entry. A chromosomal aberration involving CNTNAP2 is found in a patient with autism spectrum disorder. Paracentric inversion 46,XY,inv(7)(q11.22;q35). The inversion breakpoints disrupt the genes AUTS2 and CNTNAP2. The disease is caused by mutations affecting the gene represented in this entry. | ||
| + | == Function == | ||
| + | [[http://www.uniprot.org/uniprot/CNTP2_HUMAN CNTP2_HUMAN]] Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction.[UniProtKB:Q9CPW0] | ||
| + | __TOC__ | ||
| + | </StructureSection> | ||
| + | [[Category: Liang, W]] | ||
[[Category: Liu, H]] | [[Category: Liu, H]] | ||
| - | [[Category: | + | [[Category: Xu, F]] |
[[Category: Zhang, J]] | [[Category: Zhang, J]] | ||
| - | [[Category: | + | [[Category: Cell adhesion]] |
| + | [[Category: Epitope for autoantibody]] | ||
Revision as of 21:42, 9 August 2018
Discoidin domain of human CASPR2
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