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==Solution structure of the MIT domain from human Spartin==
==Solution structure of the MIT domain from human Spartin==
<StructureSection load='2dl1' size='340' side='right'caption='[[2dl1]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>
<StructureSection load='2dl1' size='340' side='right'caption='[[2dl1]]' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2dl1]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. 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 [https://proteopedia.org/fgij/fg.htm?mol=2DL1 FirstGlance]. <br>
<table><tr><td colspan='2'>[[2dl1]] is a 1 chain structure with sequence from [https://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 [https://proteopedia.org/fgij/fg.htm?mol=2DL1 FirstGlance]. <br>
</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SPG20, KIAA0610, TAHCCP1 ([https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2dl1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dl1 OCA], [https://pdbe.org/2dl1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2dl1 RCSB], [https://www.ebi.ac.uk/pdbsum/2dl1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2dl1 ProSAT], [https://www.topsan.org/Proteins/RSGI/2dl1 TOPSAN]</span></td></tr>
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2dl1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2dl1 OCA], [https://pdbe.org/2dl1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2dl1 RCSB], [https://www.ebi.ac.uk/pdbsum/2dl1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2dl1 ProSAT], [https://www.topsan.org/Proteins/RSGI/2dl1 TOPSAN]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[https://www.uniprot.org/uniprot/SPG20_HUMAN SPG20_HUMAN]] Defects in SPG20 are the cause of spastic paraplegia autosomal recessive type 20 (SPG20) [MIM:[https://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> 
[https://www.uniprot.org/uniprot/SPART_HUMAN SPART_HUMAN] Autosomal recessive spastic paraplegia type 20. The disease is caused by variants affecting the gene represented in this entry.
== Function ==
== Function ==
[[https://www.uniprot.org/uniprot/SPG20_HUMAN SPG20_HUMAN]] May be implicated in endosomal trafficking, or microtubule dynamics, or both.<ref>PMID:12676568</ref>
[https://www.uniprot.org/uniprot/SPART_HUMAN SPART_HUMAN] May be implicated in endosomal trafficking, or microtubule dynamics, or both. Participates in cytokinesis (PubMed:20719964).<ref>PMID:20719964</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>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Large Structures]]
[[Category: Hayashi, F]]
[[Category: Hayashi F]]
[[Category: Structural genomic]]
[[Category: Suetake T]]
[[Category: Suetake, T]]
[[Category: Yokoyama S]]
[[Category: Yokoyama, S]]
[[Category: Mit]]
[[Category: National project on protein structural and functional analyse]]
[[Category: Nppsfa]]
[[Category: Protein transport]]
[[Category: Rsgi]]
[[Category: Spartin]]
[[Category: Spg20]]
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