2dl1

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{{STRUCTURE_2dl1| PDB=2dl1 | SCENE= }}
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==Solution structure of the MIT domain from human Spartin==
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===Solution structure of the MIT domain from human Spartin===
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<StructureSection load='2dl1' size='340' side='right' caption='[[2dl1]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
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== Structural highlights ==
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==Disease==
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<table><tr><td colspan='2'>[[2dl1]] 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=2DL1 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2DL1 FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/SPG20_HUMAN SPG20_HUMAN]] Defects in SPG20 are the cause of spastic paraplegia autosomal recessive type 20 (SPG20) [MIM:[http://omim.org/entry/275900 275900]]; also known as Troyer syndrome (TRS). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature.<ref>PMID:12134148</ref>
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</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SPG20, KIAA0610, TAHCCP1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2dl1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dl1 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2dl1 RCSB], [http://www.ebi.ac.uk/pdbsum/2dl1 PDBsum], [http://www.topsan.org/Proteins/RSGI/2dl1 TOPSAN]</span></td></tr>
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==Function==
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<table>
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[[http://www.uniprot.org/uniprot/SPG20_HUMAN SPG20_HUMAN]] May be implicated in endosomal trafficking, or microtubule dynamics, or both.<ref>PMID:12676568</ref>
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== Disease ==
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[[http://www.uniprot.org/uniprot/SPG20_HUMAN SPG20_HUMAN]] Defects in SPG20 are the cause of spastic paraplegia autosomal recessive type 20 (SPG20) [MIM:[http://omim.org/entry/275900 275900]]; also known as Troyer syndrome (TRS). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature.<ref>PMID:12134148</ref>
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==About this Structure==
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== Function ==
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[[2dl1]] 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=2DL1 OCA].
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[[http://www.uniprot.org/uniprot/SPG20_HUMAN SPG20_HUMAN]] May be implicated in endosomal trafficking, or microtubule dynamics, or both.<ref>PMID:12676568</ref>
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== Evolutionary Conservation ==
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==Reference==
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[[Image:Consurf_key_small.gif|200px|right]]
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<references group="xtra"/><references/>
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/dl/2dl1_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</jmol>, as determined by [http://consurfdb.tau.ac.il/ ConSurfDB]. You may read the [[Conservation%2C_Evolutionary|explanation]] of the method and the full data available from [http://bental.tau.ac.il/new_ConSurfDB/chain_selection.php?pdb_ID=2ata ConSurf].
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<div style="clear:both"></div>
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== References ==
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Hayashi, F.]]
[[Category: Hayashi, F.]]

Revision as of 00:51, 30 September 2014

Solution structure of the MIT domain from human Spartin

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