6b9e: Difference between revisions

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==Human ATL1 mutant - R77A / F151S bound to GDP==
==Human ATL1 mutant - R77A / F151S bound to GDP==
<StructureSection load='6b9e' size='340' side='right' caption='[[6b9e]], [[Resolution|resolution]] 1.99&Aring;' scene=''>
<StructureSection load='6b9e' size='340' side='right'caption='[[6b9e]], [[Resolution|resolution]] 1.99&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[6b9e]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6B9E OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6B9E FirstGlance]. <br>
<table><tr><td colspan='2'>[[6b9e]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6B9E OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6B9E FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=GDP:GUANOSINE-5-DIPHOSPHATE'>GDP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.99&#8491;</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">ATL1, GBP3, SPG3A ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GDP:GUANOSINE-5-DIPHOSPHATE'>GDP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></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=6b9e FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6b9e OCA], [http://pdbe.org/6b9e PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6b9e RCSB], [http://www.ebi.ac.uk/pdbsum/6b9e PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6b9e ProSAT]</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=6b9e FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6b9e OCA], [https://pdbe.org/6b9e PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6b9e RCSB], [https://www.ebi.ac.uk/pdbsum/6b9e PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6b9e ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/ATLA1_HUMAN ATLA1_HUMAN]] Hereditary sensory and autonomic neuropathy type 1;Autosomal dominant spastic paraplegia type 3. Spastic paraplegia autosomal dominant 3 (SPG3) [MIM:[http://omim.org/entry/182600 182600]]: A form of spastic paraplegia, 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. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:17321752</ref> <ref>PMID:11685207</ref> <ref>PMID:12112092</ref> <ref>PMID:12939451</ref> <ref>PMID:14695538</ref> <ref>PMID:15184642</ref> <ref>PMID:16533974</ref> <ref>PMID:17427918</ref> <ref>PMID:20932283</ref> <ref>PMID:20718791</ref>  Hereditary sensory neuropathy 1D (HSN1D) [MIM:[http://omim.org/entry/613708 613708]]: A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:21194679</ref>
[https://www.uniprot.org/uniprot/ATLA1_HUMAN ATLA1_HUMAN] Hereditary sensory and autonomic neuropathy type 1;Autosomal dominant spastic paraplegia type 3. Spastic paraplegia autosomal dominant 3 (SPG3) [MIM:[https://omim.org/entry/182600 182600]: A form of spastic paraplegia, 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. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:17321752</ref> <ref>PMID:11685207</ref> <ref>PMID:12112092</ref> <ref>PMID:12939451</ref> <ref>PMID:14695538</ref> <ref>PMID:15184642</ref> <ref>PMID:16533974</ref> <ref>PMID:17427918</ref> <ref>PMID:20932283</ref> <ref>PMID:20718791</ref>  Hereditary sensory neuropathy 1D (HSN1D) [MIM:[https://omim.org/entry/613708 613708]: A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:21194679</ref>  
== Function ==
== Function ==
[[http://www.uniprot.org/uniprot/ATLA1_HUMAN ATLA1_HUMAN]] GTPase tethering membranes through formation of trans-homooligomer and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development.<ref>PMID:14506257</ref> <ref>PMID:17321752</ref> <ref>PMID:18270207</ref> <ref>PMID:19665976</ref>
[https://www.uniprot.org/uniprot/ATLA1_HUMAN ATLA1_HUMAN] GTPase tethering membranes through formation of trans-homooligomer and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development.<ref>PMID:14506257</ref> <ref>PMID:17321752</ref> <ref>PMID:18270207</ref> <ref>PMID:19665976</ref>  
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== Publication Abstract from PubMed ==
== Publication Abstract from PubMed ==
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==See Also==
*[[Atlastin 3D structures|Atlastin 3D structures]]
*[[GTP-binding protein 3D structures|GTP-binding protein 3D structures]]
== References ==
== References ==
<references/>
<references/>
__TOC__
__TOC__
</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Homo sapiens]]
[[Category: Donnell, J P.O]]
[[Category: Large Structures]]
[[Category: Sondermann, H]]
[[Category: O'Donnell JP]]
[[Category: Dynamin related protein]]
[[Category: Sondermann H]]
[[Category: Gtpase]]
[[Category: Hydrolase]]
[[Category: Hydrolysis-deficient]]

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