7ol3 - Revision history

OCA at 12:52, 1 February 2024

OCA — Thu, 01 Feb 2024 12:52:03 GMT

←Older revision		Revision as of 12:52, 1 February 2024
Line 3:		Line 3:
	<StructureSection load='7ol3' size='340' side='right'caption='[[7ol3]], [[Resolution\|resolution]] 1.90Å' scene=''>		<StructureSection load='7ol3' size='340' side='right'caption='[[7ol3]], [[Resolution\|resolution]] 1.90Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[7ol3]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/~~Human Human~~]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7OL3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7OL3 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[7ol3]] 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=7OL3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7OL3 FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ALF:TETRAFLUOROALUMINATE+ION'>ALF</scene>, <scene name='pdbligand=GDP:GUANOSINE-5-DIPHOSPHATE'>GDP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</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]] 1.9Å</td></tr>
-	~~<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">ATL1, GBP3, SPG3A ([https://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=ALF:TETRAFLUOROALUMINATE+ION'>ALF</scene>, <scene name='pdbligand=GDP:GUANOSINE-5-DIPHOSPHATE'>GDP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></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=7ol3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7ol3 OCA], [https://pdbe.org/7ol3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7ol3 RCSB], [https://www.ebi.ac.uk/pdbsum/7ol3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7ol3 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=7ol3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7ol3 OCA], [https://pdbe.org/7ol3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7ol3 RCSB], [https://www.ebi.ac.uk/pdbsum/7ol3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7ol3 ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[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>	+	[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 ==
-	[[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>	+	[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>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">
	== Publication Abstract from PubMed ==		== Publication Abstract from PubMed ==
Line 23:		Line 23:

	==See Also==		==See Also==
		+	*[[Atlastin 3D structures\|Atlastin 3D structures]]
	*[[GTP-binding protein 3D structures\|GTP-binding protein 3D structures]]		*[[GTP-binding protein 3D structures\|GTP-binding protein 3D structures]]
	== References ==		== References ==
Line 28:		Line 29:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Kelly~~, C M~~]]	+	[[Category: Kelly CM]]
-	[[Category: Sondermann, H]]	+	[[Category: Sondermann H]]
-	~~[[Category: Dynamin-related protein]]~~	+
-	~~[[Category: Endoplasmic reticulum]]~~	+
-	~~[[Category: Membrane fusion]]~~	+
-	~~[[Category: Membrane protein~~]]	+

OCA at 07:13, 2 February 2022

OCA — Wed, 02 Feb 2022 07:13:39 GMT

←Older revision		Revision as of 07:13, 2 February 2022
Line 1:		Line 1:

	==Human ATL1 N417ins (catalytic core)==		==Human ATL1 N417ins (catalytic core)==
-	<StructureSection load='7ol3' size='340' side='right'caption='[[7ol3]]' scene=''>	+	<StructureSection load='7ol3' size='340' side='right'caption='[[7ol3]], [[Resolution\|resolution]] 1.90Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7OL3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7OL3 FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[7ol3]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7OL3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7OL3 FirstGlance]. <br>
-	</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=7ol3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7ol3 OCA], [https://pdbe.org/7ol3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7ol3 RCSB], [https://www.ebi.ac.uk/pdbsum/7ol3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7ol3 ProSAT]</span></td></tr>	+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ALF:TETRAFLUOROALUMINATE+ION'>ALF</scene>, <scene name='pdbligand=GDP:GUANOSINE-5-DIPHOSPHATE'>GDP</scene>, <scene name='pdbligand=MG:MAGNESIUM+ION'>MG</scene></td></tr>
		+	<tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">ATL1, GBP3, SPG3A ([https://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'>[https://proteopedia.org/fgij/fg.htm?mol=7ol3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7ol3 OCA], [https://pdbe.org/7ol3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7ol3 RCSB], [https://www.ebi.ac.uk/pdbsum/7ol3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7ol3 ProSAT]</span></td></tr>
	</table>		</table>
		+	== Disease ==
		+	[[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 ==
		+	[[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>
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of neuropathies affecting upper motor neurons and causing progressive gait disorder. Mutations in the gene SPG3A/atlastin-1 (ATL1), encoding a dynamin superfamily member, which utilizes the energy from GTP hydrolysis for membrane tethering and fusion to promote the formation of a highly branched, smooth endoplasmic reticulum (ER), account for approximately 10% of all HSP cases. The continued discovery and characterization of novel disease mutations are crucial for our understanding of HSP pathogenesis and potential treatments. Here, we report a novel disease-causing, in-frame insertion in the ATL1 gene, leading to inclusion of an additional asparagine residue at position 417 (N417ins). This mutation correlates with complex, early-onset spastic quadriplegia affecting all four extremities, generalized dystonia, and a thinning of the corpus callosum. We show using limited proteolysis and FRET-based studies that this novel insertion affects a region in the protein central to intramolecular interactions and GTPase-driven conformational change, and that this insertion mutation is associated with an aberrant prehydrolysis state. While GTPase activity remains unaffected by the insertion, membrane tethering is increased, indicative of a gain-of-function disease mechanism uncommon for ATL1-associated pathologies. In conclusion, our results identify a novel insertion mutation with altered membrane tethering activity that is associated with spastic quadriplegia, potentially uncovering a broad spectrum of molecular mechanisms that may affect neuronal function.
		+
		+	A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching.,Kelly CM, Zeiger PJ, Narayanan V, Ramsey K, Sondermann H J Biol Chem. 2022 Jan;298(1):101438. doi: 10.1016/j.jbc.2021.101438. Epub 2021, Nov 19. PMID:34808209<ref>PMID:34808209</ref>
		+
		+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
		+	</div>
		+	<div class="pdbe-citations 7ol3" style="background-color:#fffaf0;"></div>
		+
		+	==See Also==
		+	*[[GTP-binding protein 3D structures\|GTP-binding protein 3D structures]]
		+	== References ==
		+	<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
		+	[[Category: Human]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Kelly CM]]	+	[[Category: Kelly, C M]]
-	[[Category: Sondermann H]]	+	[[Category: Sondermann, H]]
		+	[[Category: Dynamin-related protein]]
		+	[[Category: Endoplasmic reticulum]]
		+	[[Category: Membrane fusion]]
		+	[[Category: Membrane protein]]

OCA at 08:59, 21 July 2021

OCA — Wed, 21 Jul 2021 08:59:47 GMT

←Older revision		Revision as of 08:59, 21 July 2021
Line 1:		Line 1:
-	'''Unreleased structure'''

-	~~The entry~~ 7ol3 ~~is ON HOLD~~	+	==Human ATL1 N417ins (catalytic core)==
-		+	<StructureSection load='7ol3' size='340' side='right'caption='[[7ol3]]' scene=''>
-	~~Authors~~: ~~Kelly~~, C.M., ~~Sondermann~~, H.	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=7OL3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7OL3 FirstGlance]. <br>
-	~~Description: Human ATL1 N417ins (catalytic core)~~	+	</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=7ol3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7ol3 OCA], [https://pdbe.org/7ol3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7ol3 RCSB], [https://www.ebi.ac.uk/pdbsum/7ol3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7ol3 ProSAT]</span></td></tr>
-	[[Category: ~~Unreleased~~ Structures]]	+	</table>
-	[[Category: ~~Sondermann, H~~]]	+	__TOC__
-	[[Category: ~~Kelly, C.M~~]]	+	</StructureSection>
		+	[[Category: Large Structures]]
		+	[[Category: Kelly CM]]
		+	[[Category: Sondermann H]]

OCA: Protected "7ol3" [edit=sysop:move=sysop]

OCA — Wed, 26 May 2021 08:10:45 GMT

Protected "7ol3" [edit=sysop:move=sysop]

←Older revision

Revision as of 08:10, 26 May 2021

OCA: New page: '''Unreleased structure''' The entry 7ol3 is ON HOLD Authors: Kelly, C.M., Sondermann, H. Description: Human ATL1 N417ins (catalytic core) Category: Unreleased Structures [[Categor...

OCA — Wed, 26 May 2021 08:10:44 GMT

New page: '''Unreleased structure''' The entry 7ol3 is ON HOLD Authors: Kelly, C.M., Sondermann, H. Description: Human ATL1 N417ins (catalytic core) Category: Unreleased Structures [[Categor...

New page

'''Unreleased structure'''

The entry 7ol3 is ON HOLD

Authors: Kelly, C.M., Sondermann, H.

Description: Human ATL1 N417ins (catalytic core)
[[Category: Unreleased Structures]]
[[Category: Sondermann, H]]
[[Category: Kelly, C.M]]