2cp2
From Proteopedia
(Difference between revisions)
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<StructureSection load='2cp2' size='340' side='right' caption='[[2cp2]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | <StructureSection load='2cp2' size='340' side='right' caption='[[2cp2]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
| - | <table><tr><td colspan='2'>[[2cp2]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/ | + | <table><tr><td colspan='2'>[[2cp2]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2CP2 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2CP2 FirstGlance]. <br> |
| - | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">Kazusa cDNA fh25236 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 | + | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">Kazusa cDNA fh25236 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr> |
| - | <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=2cp2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cp2 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2cp2 RCSB], [http://www.ebi.ac.uk/pdbsum/2cp2 PDBsum], [http://www.topsan.org/Proteins/RSGI/2cp2 TOPSAN]</span></td></tr> | + | <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=2cp2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2cp2 OCA], [http://pdbe.org/2cp2 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2cp2 RCSB], [http://www.ebi.ac.uk/pdbsum/2cp2 PDBsum], [http://www.topsan.org/Proteins/RSGI/2cp2 TOPSAN]</span></td></tr> |
</table> | </table> | ||
== Disease == | == Disease == | ||
| - | [[http://www.uniprot.org/uniprot/ | + | [[http://www.uniprot.org/uniprot/CLIP2_HUMAN CLIP2_HUMAN]] Williams syndrome. CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of CLIP2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. |
== Function == | == Function == | ||
| - | [[http://www.uniprot.org/uniprot/ | + | [[http://www.uniprot.org/uniprot/CLIP2_HUMAN CLIP2_HUMAN]] Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity). |
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
| - | [[Category: | + | [[Category: Human]] |
[[Category: Inoue, M]] | [[Category: Inoue, M]] | ||
[[Category: Kigawa, T]] | [[Category: Kigawa, T]] | ||
Revision as of 17:09, 10 September 2015
Solution structure of the 1st CAP-Gly domain in human CLIP-115/CYLN2
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