7sib - Revision history

OCA at 09:35, 25 October 2023

2023-10-25T09:35:39Z

←Older revision		Revision as of 09:35, 25 October 2023
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	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[7sib]] is a 1 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=7SIB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7SIB FirstGlance]. <br>		<table><tr><td colspan='2'>[[7sib]] is a 1 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=7SIB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7SIB FirstGlance]. <br>
-	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NA:SODIUM+ION'>NA</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]] 1.78Å</td></tr>
		+	<tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NA:SODIUM+ION'>NA</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=7sib FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7sib OCA], [https://pdbe.org/7sib PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7sib RCSB], [https://www.ebi.ac.uk/pdbsum/7sib PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7sib 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=7sib FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7sib OCA], [https://pdbe.org/7sib PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7sib RCSB], [https://www.ebi.ac.uk/pdbsum/7sib PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7sib ProSAT]</span></td></tr>
	</table>		</table>

OCA at 07:32, 11 January 2023

2023-01-11T07:32:10Z

←Older revision		Revision as of 07:32, 11 January 2023
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-	'''Unreleased structure'''

-	~~The entry~~ 7sib is ~~ON HOLD~~ ~~until 2024~~-02-16	+	==Myocilin OLF mutant K500R==
		+	<StructureSection load='7sib' size='340' side='right'caption='[[7sib]], [[Resolution\|resolution]] 1.78Å' scene=''>
		+	== Structural highlights ==
		+	<table><tr><td colspan='2'>[[7sib]] is a 1 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=7SIB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7SIB FirstGlance]. <br>
		+	</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand\|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CA:CALCIUM+ION'>CA</scene>, <scene name='pdbligand=GOL:GLYCEROL'>GOL</scene>, <scene name='pdbligand=NA:SODIUM+ION'>NA</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=7sib FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7sib OCA], [https://pdbe.org/7sib PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7sib RCSB], [https://www.ebi.ac.uk/pdbsum/7sib PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7sib ProSAT]</span></td></tr>
		+	</table>
		+	== Disease ==
		+	[https://www.uniprot.org/uniprot/MYOC_HUMAN MYOC_HUMAN] Congenital glaucoma;Juvenile glaucoma. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270).<ref>PMID:15733270</ref>
		+	== Function ==
		+	[https://www.uniprot.org/uniprot/MYOC_HUMAN MYOC_HUMAN] Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migration through activation of PTK2 and the downstream phosphatidylinositol 3-kinase signaling. Plays a role in bone formation and promotes osteoblast differentiation in a dose-dependent manner through mitogen-activated protein kinase signaling. Mediates myelination in the peripheral nervous system through ERBB2/ERBB3 signaling. Plays a role as a regulator of muscle hypertrophy through the components of dystrophin-associated protein complex. Involved in positive regulation of mitochondrial depolarization. Plays a role in neurite outgrowth. May participate in the obstruction of fluid outflow in the trabecular meshwork.<ref>PMID:17516541</ref> <ref>PMID:17984096</ref> <ref>PMID:18855004</ref> <ref>PMID:19188438</ref> <ref>PMID:19959812</ref> <ref>PMID:21656515</ref> <ref>PMID:23629661</ref> <ref>PMID:23897819</ref>
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	Accurate predictions of pathogenicity for mutations associated with genetic disease are key to the success of precision medicine. Inherited, missense coding mutations in the myocilin gene (MYOC), within its olfactomedin (OLF) domain, comprise the strongest genetic link to primary open angle glaucoma via a toxic gain of function, and MYOC is an attractive precision medicine target. However, not all mutations in MYOC cause glaucoma, and common variants are expected to be neutral polymorphisms. The gnomAD database lists approximately 100 missense variants documented within OLF, all of which are relatively rare (allele frequency <0.001%) and nearly all are of unknown pathogenicity. To disambiguate disease from benign OLF variants, we first characterized the most prevalent population-based variants using a suite of cellular and biophysical assays, and identify two variants with features of aggregation-prone familial disease variants. Next, we consider all available biochemical and clinical data to demonstrate that pathogenic and benign variants can be differentiated statistically based on a single metric, thermal stability of OLF. Our results motivate genotyping MYOC in patients for clinical monitoring of this widespread, painless, and irreversible age-onset disease.

-	~~Authors:~~ Scelsi, ~~H.S.~~, Barlow, ~~B.M.~~, Lieberman~~, R~~.L.	+	Disambiguation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.,Scelsi HF, Hill KR, Barlow BM, Martin MD, Lieberman RL Dis Model Mech. 2022 Dec 29:dmm.049816. doi: 10.1242/dmm.049816. PMID:36579626<ref>PMID:36579626</ref>

-	~~Description~~: ~~Myocilin OLF mutant K500R~~	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	[[Category: ~~Unreleased Structures~~]]	+	</div>
-	[[Category: ~~Lieberman, R.L~~]]	+	<div class="pdbe-citations 7sib" style="background-color:#fffaf0;"></div>
-	[[Category: Barlow~~, B.M~~]]	+	== References ==
-	[[Category: Scelsi~~, H.S~~]]	+	<references/>
		+	__TOC__
		+	</StructureSection>
		+	[[Category: Homo sapiens]]
		+	[[Category: Large Structures]]
		+	[[Category: Barlow BM]]
		+	[[Category: Lieberman RL]]
		+	[[Category: Scelsi HS]]

OCA at 03:28, 25 August 2022

2022-08-25T03:28:51Z

←Older revision		Revision as of 03:28, 25 August 2022
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	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 7sib is ON HOLD until ~~Paper Publication~~	+	The entry 7sib is ON HOLD until 2024-02-16

	Authors: Scelsi, H.S., Barlow, B.M., Lieberman, R.L.		Authors: Scelsi, H.S., Barlow, B.M., Lieberman, R.L.

OCA at 12:51, 3 November 2021

2021-11-03T12:51:03Z

←Older revision		Revision as of 12:51, 3 November 2021
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	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 7sib is ON HOLD	+	The entry 7sib is ON HOLD until Paper Publication

	Authors: Scelsi, H.S., Barlow, B.M., Lieberman, R.L.		Authors: Scelsi, H.S., Barlow, B.M., Lieberman, R.L.
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	Description: Myocilin OLF mutant K500R		Description: Myocilin OLF mutant K500R
	[[Category: Unreleased Structures]]		[[Category: Unreleased Structures]]
-	[[Category: Scelsi, H.S]]
	[[Category: Lieberman, R.L]]		[[Category: Lieberman, R.L]]
	[[Category: Barlow, B.M]]		[[Category: Barlow, B.M]]
		+	[[Category: Scelsi, H.S]]

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

2021-10-20T15:09:32Z

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

←Older revision

Revision as of 15:09, 20 October 2021

OCA: New page: '''Unreleased structure''' The entry 7sib is ON HOLD Authors: Scelsi, H.S., Barlow, B.M., Lieberman, R.L. Description: Myocilin OLF mutant K500R Category: Unreleased Structures [[C...

2021-10-20T15:09:31Z

New page: '''Unreleased structure''' The entry 7sib is ON HOLD Authors: Scelsi, H.S., Barlow, B.M., Lieberman, R.L. Description: Myocilin OLF mutant K500R Category: Unreleased Structures [[C...

New page

'''Unreleased structure'''

The entry 7sib is ON HOLD

Authors: Scelsi, H.S., Barlow, B.M., Lieberman, R.L.

Description: Myocilin OLF mutant K500R
[[Category: Unreleased Structures]]
[[Category: Scelsi, H.S]]
[[Category: Lieberman, R.L]]
[[Category: Barlow, B.M]]