2dzj

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<StructureSection load='2dzj' size='340' side='right' caption='[[2dzj]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='2dzj' size='340' side='right' caption='[[2dzj]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
== Structural highlights ==
== Structural highlights ==
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<table><tr><td colspan='2'>[[2dzj]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DZJ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DZJ FirstGlance]. <br>
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<table><tr><td colspan='2'>[[2dzj]] 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=2DZJ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DZJ FirstGlance]. <br>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">GPSN2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">GPSN2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
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<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=2dzj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dzj OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2dzj RCSB], [http://www.ebi.ac.uk/pdbsum/2dzj PDBsum], [http://www.topsan.org/Proteins/RSGI/2dzj TOPSAN]</span></td></tr>
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<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=2dzj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dzj OCA], [http://pdbe.org/2dzj PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2dzj RCSB], [http://www.ebi.ac.uk/pdbsum/2dzj PDBsum], [http://www.topsan.org/Proteins/RSGI/2dzj TOPSAN]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
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[[http://www.uniprot.org/uniprot/GPSN2_HUMAN GPSN2_HUMAN]] Defects in TECR are the cause of mental retardation autosomal recessive type 14 (MRT14) [MIM:[http://omim.org/entry/614020 614020]]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.<ref>PMID:21212097</ref>
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[[http://www.uniprot.org/uniprot/TECR_HUMAN TECR_HUMAN]] Autosomal recessive non-syndromic intellectual disability. The disease is caused by mutations affecting the gene represented in this entry.
== Function ==
== Function ==
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[[http://www.uniprot.org/uniprot/GPSN2_HUMAN GPSN2_HUMAN]] Reduces trans-2,3-stearoyl-CoA to stearoyl-CoA of long and very long chain fatty acids.<ref>PMID:12482854</ref>
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[[http://www.uniprot.org/uniprot/TECR_HUMAN TECR_HUMAN]] Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme reduces the trans-2,3-enoyl-CoA fatty acid intermediate to an acyl-CoA that can be further elongated by entering a new cycle of elongation. Thereby, it participates to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.<ref>PMID:12482854</ref>
== 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>
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[[Category: Homo sapiens]]
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[[Category: Human]]
[[Category: Harada, T]]
[[Category: Harada, T]]
[[Category: Kigawa, T]]
[[Category: Kigawa, T]]

Revision as of 01:06, 10 September 2015

2DZJ/Solution Structure of the N-terminal Ubiquitin-like Domain in Human Synaptic Glycoprotein SC2

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