1nfo - Revision history

OCA at 06:30, 9 August 2023

OCA — Wed, 09 Aug 2023 06:30:56 GMT

←Older revision		Revision as of 06:30, 9 August 2023
Line 3:		Line 3:
	<StructureSection load='1nfo' size='340' side='right'caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>		<StructureSection load='1nfo' size='340' side='right'caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1nfo]] is a 1 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=1NFO OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1NFO FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1nfo]] 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=1NFO OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1NFO FirstGlance]. <br>
-	</td></tr><tr id='~~gene~~'><td class="sblockLbl"><b>[[~~Gene~~\|~~Gene~~:]]</b></td><td class="sblockDat">~~E2 (~~[~~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">X-ray diffraction, [[Resolution\|Resolution]] 2Å</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=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [https://pdbe.org/1nfo PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [https://www.ebi.ac.uk/pdbsum/1nfo PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1nfo 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=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [https://pdbe.org/1nfo PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [https://www.ebi.ac.uk/pdbsum/1nfo PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1nfo ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[https://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Defects in APOE are a cause of hyperlipoproteinemia type 3 (HLPP3) [MIM:[https://omim.org/entry/107741 107741]]; also known as familial dysbetalipoproteinemia. Individuals with HLPP3 are clinically characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The vast majority of the patients are homozygous for APOE2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE4 variant are at higher risk of CAD.<ref>PMID:8346443</ref> <ref>PMID:2556398</ref> <ref>PMID:1674745</ref> <ref>PMID:8287539</ref> <ref>PMID:22481068</ref> Genetic variations in APOE are associated with Alzheimer disease type 2 (AD2) [MIM:[https://omim.org/entry/104310 104310]]. It is a late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The APOE4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE4 alleles in 42 families with late onset AD. Thus APOE4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.<ref>PMID:8346443</ref> Defects in APOE are a cause of sea-blue histiocyte disease (SBHD) [MIM:[https://omim.org/entry/269600 269600]]; also known as sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.<ref>PMID:8346443</ref> <ref>PMID:11095479</ref> <ref>PMID:16094309</ref> Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:[https://omim.org/entry/611771 611771]]. LPG is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese origin. The disorder has rarely been described in Caucasians.<ref>PMID:8346443</ref> <ref>PMID:9176854</ref> <ref>PMID:10432380</ref> <ref>PMID:18077821</ref> Defects in APOE are a cause of familial hypercholesterolemia (FH) [MIM:[https://omim.org/entry/143890 143890]]. FH is a condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.<ref>PMID:8346443</ref> <ref>PMID:22949395</ref>	+	[https://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN] Defects in APOE are a cause of hyperlipoproteinemia type 3 (HLPP3) [MIM:[https://omim.org/entry/107741 107741]; also known as familial dysbetalipoproteinemia. Individuals with HLPP3 are clinically characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The vast majority of the patients are homozygous for APOE2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE4 variant are at higher risk of CAD.<ref>PMID:8346443</ref> <ref>PMID:2556398</ref> <ref>PMID:1674745</ref> <ref>PMID:8287539</ref> <ref>PMID:22481068</ref> Genetic variations in APOE are associated with Alzheimer disease type 2 (AD2) [MIM:[https://omim.org/entry/104310 104310]. It is a late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The APOE4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE4 alleles in 42 families with late onset AD. Thus APOE4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.<ref>PMID:8346443</ref> Defects in APOE are a cause of sea-blue histiocyte disease (SBHD) [MIM:[https://omim.org/entry/269600 269600]; also known as sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.<ref>PMID:8346443</ref> <ref>PMID:11095479</ref> <ref>PMID:16094309</ref> Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:[https://omim.org/entry/611771 611771]. LPG is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese origin. The disorder has rarely been described in Caucasians.<ref>PMID:8346443</ref> <ref>PMID:9176854</ref> <ref>PMID:10432380</ref> <ref>PMID:18077821</ref> Defects in APOE are a cause of familial hypercholesterolemia (FH) [MIM:[https://omim.org/entry/143890 143890]. FH is a condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.<ref>PMID:8346443</ref> <ref>PMID:22949395</ref>
	== Function ==		== Function ==
-	[[https://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.	+	[https://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN] Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]
Line 34:		Line 34:
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Human~~]]	+	[[Category: Homo sapiens]]
	[[Category: Large Structures]]		[[Category: Large Structures]]
-	[[Category: Parkin, S]]	+	[[Category: Parkin S]]
-	[[Category: Rupp, B]]	+	[[Category: Rupp B]]
-	~~[[Category: Hdl]]~~	+
-	~~[[Category: Heparin-binding]]~~	+
-	~~[[Category: Lipid transport]]~~	+
-	~~[[Category: Plasma protein]]~~	+
-	~~[[Category: Vldl~~]]	+

OCA at 15:23, 3 November 2021

OCA — Wed, 03 Nov 2021 15:23:48 GMT

←Older revision		Revision as of 15:23, 3 November 2021
Line 3:		Line 3:
	<StructureSection load='1nfo' size='340' side='right'caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>		<StructureSection load='1nfo' size='340' side='right'caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1nfo]] is a 1 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=1NFO OCA]. For a <b>guided tour on the structure components</b> use [~~http~~://proteopedia.org/fgij/fg.htm?mol=1NFO FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1nfo]] is a 1 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=1NFO OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1NFO FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([~~http~~://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([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'>[~~http~~://proteopedia.org/fgij/fg.htm?mol=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [~~http~~://pdbe.org/1nfo PDBe], [~~http~~://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [~~http~~://www.ebi.ac.uk/pdbsum/1nfo PDBsum], [~~http~~://prosat.h-its.org/prosat/prosatexe?pdbcode=1nfo 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=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [https://pdbe.org/1nfo PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [https://www.ebi.ac.uk/pdbsum/1nfo PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1nfo ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
-	[[~~http~~://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Defects in APOE are a cause of hyperlipoproteinemia type 3 (HLPP3) [MIM:[~~http~~://omim.org/entry/107741 107741]]; also known as familial dysbetalipoproteinemia. Individuals with HLPP3 are clinically characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The vast majority of the patients are homozygous for APOE2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE4 variant are at higher risk of CAD.<ref>PMID:8346443</ref> <ref>PMID:2556398</ref> <ref>PMID:1674745</ref> <ref>PMID:8287539</ref> <ref>PMID:22481068</ref> Genetic variations in APOE are associated with Alzheimer disease type 2 (AD2) [MIM:[~~http~~://omim.org/entry/104310 104310]]. It is a late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The APOE4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE4 alleles in 42 families with late onset AD. Thus APOE4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.<ref>PMID:8346443</ref> Defects in APOE are a cause of sea-blue histiocyte disease (SBHD) [MIM:[~~http~~://omim.org/entry/269600 269600]]; also known as sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.<ref>PMID:8346443</ref> <ref>PMID:11095479</ref> <ref>PMID:16094309</ref> Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:[~~http~~://omim.org/entry/611771 611771]]. LPG is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese origin. The disorder has rarely been described in Caucasians.<ref>PMID:8346443</ref> <ref>PMID:9176854</ref> <ref>PMID:10432380</ref> <ref>PMID:18077821</ref> Defects in APOE are a cause of familial hypercholesterolemia (FH) [MIM:[~~http~~://omim.org/entry/143890 143890]]. FH is a condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.<ref>PMID:8346443</ref> <ref>PMID:22949395</ref>	+	[[https://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Defects in APOE are a cause of hyperlipoproteinemia type 3 (HLPP3) [MIM:[https://omim.org/entry/107741 107741]]; also known as familial dysbetalipoproteinemia. Individuals with HLPP3 are clinically characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The vast majority of the patients are homozygous for APOE2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE4 variant are at higher risk of CAD.<ref>PMID:8346443</ref> <ref>PMID:2556398</ref> <ref>PMID:1674745</ref> <ref>PMID:8287539</ref> <ref>PMID:22481068</ref> Genetic variations in APOE are associated with Alzheimer disease type 2 (AD2) [MIM:[https://omim.org/entry/104310 104310]]. It is a late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The APOE4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE4 alleles in 42 families with late onset AD. Thus APOE4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.<ref>PMID:8346443</ref> Defects in APOE are a cause of sea-blue histiocyte disease (SBHD) [MIM:[https://omim.org/entry/269600 269600]]; also known as sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.<ref>PMID:8346443</ref> <ref>PMID:11095479</ref> <ref>PMID:16094309</ref> Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:[https://omim.org/entry/611771 611771]]. LPG is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese origin. The disorder has rarely been described in Caucasians.<ref>PMID:8346443</ref> <ref>PMID:9176854</ref> <ref>PMID:10432380</ref> <ref>PMID:18077821</ref> Defects in APOE are a cause of familial hypercholesterolemia (FH) [MIM:[https://omim.org/entry/143890 143890]]. FH is a condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.<ref>PMID:8346443</ref> <ref>PMID:22949395</ref>
	== Function ==		== Function ==
-	[[~~http~~://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.	+	[[https://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.
	== Evolutionary Conservation ==		== Evolutionary Conservation ==
	[[Image:Consurf_key_small.gif\|200px\|right]]		[[Image:Consurf_key_small.gif\|200px\|right]]

OCA at 08:50, 2 December 2020

OCA — Wed, 02 Dec 2020 08:50:00 GMT

←Older revision		Revision as of 08:50, 2 December 2020
Line 1:		Line 1:

	==APOLIPOPROTEIN E2 (APOE2, D154A MUTATION)==		==APOLIPOPROTEIN E2 (APOE2, D154A MUTATION)==
-	<StructureSection load='1nfo' size='340' side='right' caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>	+	<StructureSection load='1nfo' size='340' side='right'caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1nfo]] is a 1 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=1NFO OCA]. For a <b>guided tour on the structure components</b> use [http://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=1NFO FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1nfo]] is a 1 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=1NFO OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=1NFO FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([http://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'>[http://~~oca~~.~~weizmann.ac.il/oca-docs~~/fgij/fg.htm?mol=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [http://pdbe.org/1nfo PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [http://www.ebi.ac.uk/pdbsum/1nfo PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1nfo ProSAT]</span></td></tr>	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [http://pdbe.org/1nfo PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [http://www.ebi.ac.uk/pdbsum/1nfo PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1nfo ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 35:		Line 35:
	</StructureSection>		</StructureSection>
	[[Category: Human]]		[[Category: Human]]
		+	[[Category: Large Structures]]
	[[Category: Parkin, S]]		[[Category: Parkin, S]]
	[[Category: Rupp, B]]		[[Category: Rupp, B]]

OCA at 07:28, 7 February 2018

OCA — Wed, 07 Feb 2018 07:28:12 GMT

←Older revision		Revision as of 07:28, 7 February 2018
Line 1:		Line 1:
		+
	==APOLIPOPROTEIN E2 (APOE2, D154A MUTATION)==		==APOLIPOPROTEIN E2 (APOE2, D154A MUTATION)==
	<StructureSection load='1nfo' size='340' side='right' caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>		<StructureSection load='1nfo' size='340' side='right' caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>
Line 4:		Line 5:
	<table><tr><td colspan='2'>[[1nfo]] is a 1 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=1NFO OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1NFO FirstGlance]. <br>		<table><tr><td colspan='2'>[[1nfo]] is a 1 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=1NFO OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1NFO FirstGlance]. <br>
	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>		</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([http://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'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [http://pdbe.org/1nfo PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [http://www.ebi.ac.uk/pdbsum/1nfo PDBsum]</span></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=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [http://pdbe.org/1nfo PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [http://www.ebi.ac.uk/pdbsum/1nfo PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1nfo ProSAT]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 14:		Line 15:
	Check<jmol>		Check<jmol>
	<jmolCheckbox>		<jmolCheckbox>
-	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/nf/1nfo_consurf.spt"</scriptWhenChecked>	+	<scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/nf/1nfo_consurf.spt"</scriptWhenChecked>
	<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>		<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
	<text>to colour the structure by Evolutionary Conservation</text>		<text>to colour the structure by Evolutionary Conservation</text>

OCA at 07:27, 7 February 2016

OCA — Sun, 07 Feb 2016 07:27:08 GMT

←Older revision		Revision as of 07:27, 7 February 2016
Line 18:		Line 18:
	<text>to colour the structure by Evolutionary Conservation</text>		<text>to colour the structure by Evolutionary Conservation</text>
	</jmolCheckbox>		</jmolCheckbox>
-	</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].	+	</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/main_output.php?pdb_ID=1nfo ConSurf].
	<div style="clear:both"></div>		<div style="clear:both"></div>
	<div style="background-color:#fffaf0;">		<div style="background-color:#fffaf0;">

OCA at 23:10, 9 September 2015

OCA — Wed, 09 Sep 2015 23:10:44 GMT

←Older revision		Revision as of 23:10, 9 September 2015
Line 2:		Line 2:
	<StructureSection load='1nfo' size='340' side='right' caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>		<StructureSection load='1nfo' size='340' side='right' caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>
	== Structural highlights ==		== Structural highlights ==
-	<table><tr><td colspan='2'>[[1nfo]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/~~Homo_sapiens Homo sapiens~~]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1NFO OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1NFO FirstGlance]. <br>	+	<table><tr><td colspan='2'>[[1nfo]] is a 1 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=1NFO OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1NFO FirstGlance]. <br>
-	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 ~~Homo sapiens~~])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([http://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'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [http://www.ebi.ac.uk/pdbsum/1nfo PDBsum]</span></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=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [http://pdbe.org/1nfo PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [http://www.ebi.ac.uk/pdbsum/1nfo PDBsum]</span></td></tr>
	</table>		</table>
	== Disease ==		== Disease ==
Line 28:		Line 28:
	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>		From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
	</div>		</div>
		+	<div class="pdbe-citations 1nfo" style="background-color:#fffaf0;"></div>
	== References ==		== References ==
	<references/>		<references/>
	__TOC__		__TOC__
	</StructureSection>		</StructureSection>
-	[[Category: ~~Homo sapiens~~]]	+	[[Category: Human]]
	[[Category: Parkin, S]]		[[Category: Parkin, S]]
	[[Category: Rupp, B]]		[[Category: Rupp, B]]

OCA at 16:00, 5 January 2015

OCA — Mon, 05 Jan 2015 16:00:04 GMT

←Older revision		Revision as of 16:00, 5 January 2015
Line 3:		Line 3:
	== Structural highlights ==		== Structural highlights ==
	<table><tr><td colspan='2'>[[1nfo]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1NFO OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1NFO FirstGlance]. <br>		<table><tr><td colspan='2'>[[1nfo]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1NFO OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1NFO FirstGlance]. <br>
-	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>	+	</td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
-	<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=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [http://www.ebi.ac.uk/pdbsum/1nfo PDBsum]</span></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=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [http://www.ebi.ac.uk/pdbsum/1nfo PDBsum]</span></td></tr>
-	<table>	+	</table>
	== Disease ==		== Disease ==
	[[http://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Defects in APOE are a cause of hyperlipoproteinemia type 3 (HLPP3) [MIM:[http://omim.org/entry/107741 107741]]; also known as familial dysbetalipoproteinemia. Individuals with HLPP3 are clinically characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The vast majority of the patients are homozygous for APOE2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE4 variant are at higher risk of CAD.<ref>PMID:8346443</ref> <ref>PMID:2556398</ref> <ref>PMID:1674745</ref> <ref>PMID:8287539</ref> <ref>PMID:22481068</ref> Genetic variations in APOE are associated with Alzheimer disease type 2 (AD2) [MIM:[http://omim.org/entry/104310 104310]]. It is a late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The APOE4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE4 alleles in 42 families with late onset AD. Thus APOE4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.<ref>PMID:8346443</ref> Defects in APOE are a cause of sea-blue histiocyte disease (SBHD) [MIM:[http://omim.org/entry/269600 269600]]; also known as sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.<ref>PMID:8346443</ref> <ref>PMID:11095479</ref> <ref>PMID:16094309</ref> Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:[http://omim.org/entry/611771 611771]]. LPG is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese origin. The disorder has rarely been described in Caucasians.<ref>PMID:8346443</ref> <ref>PMID:9176854</ref> <ref>PMID:10432380</ref> <ref>PMID:18077821</ref> Defects in APOE are a cause of familial hypercholesterolemia (FH) [MIM:[http://omim.org/entry/143890 143890]]. FH is a condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.<ref>PMID:8346443</ref> <ref>PMID:22949395</ref>		[[http://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Defects in APOE are a cause of hyperlipoproteinemia type 3 (HLPP3) [MIM:[http://omim.org/entry/107741 107741]]; also known as familial dysbetalipoproteinemia. Individuals with HLPP3 are clinically characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The vast majority of the patients are homozygous for APOE2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE4 variant are at higher risk of CAD.<ref>PMID:8346443</ref> <ref>PMID:2556398</ref> <ref>PMID:1674745</ref> <ref>PMID:8287539</ref> <ref>PMID:22481068</ref> Genetic variations in APOE are associated with Alzheimer disease type 2 (AD2) [MIM:[http://omim.org/entry/104310 104310]]. It is a late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The APOE4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE4 alleles in 42 families with late onset AD. Thus APOE4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.<ref>PMID:8346443</ref> Defects in APOE are a cause of sea-blue histiocyte disease (SBHD) [MIM:[http://omim.org/entry/269600 269600]]; also known as sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.<ref>PMID:8346443</ref> <ref>PMID:11095479</ref> <ref>PMID:16094309</ref> Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:[http://omim.org/entry/611771 611771]]. LPG is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese origin. The disorder has rarely been described in Caucasians.<ref>PMID:8346443</ref> <ref>PMID:9176854</ref> <ref>PMID:10432380</ref> <ref>PMID:18077821</ref> Defects in APOE are a cause of familial hypercholesterolemia (FH) [MIM:[http://omim.org/entry/143890 143890]]. FH is a condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.<ref>PMID:8346443</ref> <ref>PMID:22949395</ref>
Line 33:		Line 33:
	</StructureSection>		</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
-	[[Category: Parkin, S.]]	+	[[Category: Parkin, S]]
-	[[Category: Rupp, B.]]	+	[[Category: Rupp, B]]
	[[Category: Hdl]]		[[Category: Hdl]]
	[[Category: Heparin-binding]]		[[Category: Heparin-binding]]

OCA at 15:12, 29 September 2014

OCA — Mon, 29 Sep 2014 15:12:31 GMT

←Older revision		Revision as of 15:12, 29 September 2014
Line 1:		Line 1:
-	~~{{STRUCTURE_1nfo\| PDB=1nfo \| SCENE= }}~~	+	==APOLIPOPROTEIN E2 (APOE2, D154A MUTATION)==
-	===APOLIPOPROTEIN E2 (APOE2, D154A MUTATION)===	+	<StructureSection load='1nfo' size='340' side='right' caption='[[1nfo]], [[Resolution\|resolution]] 2.00Å' scene=''>
-	~~{{ABSTRACT_PUBMED_8756331}}~~	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[1nfo]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1NFO OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1NFO FirstGlance]. <br>
-	==Disease==	+	</td></tr><tr><td class="sblockLbl"><b>[[Gene\|Gene:]]</b></td><td class="sblockDat">E2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
-	[[http://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Defects in APOE are a cause of hyperlipoproteinemia type 3 (HLPP3) [MIM:[http://omim.org/entry/107741 107741]]; also known as familial dysbetalipoproteinemia. Individuals with HLPP3 are clinically characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The vast majority of the patients are homozygous for APOE2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE4 variant are at higher risk of CAD.<ref>PMID:8346443</ref><ref>PMID:2556398</ref><ref>PMID:1674745</ref><ref>PMID:8287539</ref><ref>PMID:22481068</ref> Genetic variations in APOE are associated with Alzheimer disease type 2 (AD2) [MIM:[http://omim.org/entry/104310 104310]]. It is a late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The APOE4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE4 alleles in 42 families with late onset AD. Thus APOE4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.<ref>PMID:8346443</ref> Defects in APOE are a cause of sea-blue histiocyte disease (SBHD) [MIM:[http://omim.org/entry/269600 269600]]; also known as sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.<ref>PMID:8346443</ref><ref>PMID:11095479</ref><ref>PMID:16094309</ref> Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:[http://omim.org/entry/611771 611771]]. LPG is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese origin. The disorder has rarely been described in Caucasians.<ref>PMID:8346443</ref><ref>PMID:9176854</ref><ref>PMID:10432380</ref><ref>PMID:18077821</ref> Defects in APOE are a cause of familial hypercholesterolemia (FH) [MIM:[http://omim.org/entry/143890 143890]]. FH is a condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.<ref>PMID:8346443</ref><ref>PMID:22949395</ref>	+	<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=1nfo FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1nfo OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1nfo RCSB], [http://www.ebi.ac.uk/pdbsum/1nfo PDBsum]</span></td></tr>
-		+	<table>
-	==Function==	+	== Disease ==
		+	[[http://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Defects in APOE are a cause of hyperlipoproteinemia type 3 (HLPP3) [MIM:[http://omim.org/entry/107741 107741]]; also known as familial dysbetalipoproteinemia. Individuals with HLPP3 are clinically characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The vast majority of the patients are homozygous for APOE2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE4 variant are at higher risk of CAD.<ref>PMID:8346443</ref> <ref>PMID:2556398</ref> <ref>PMID:1674745</ref> <ref>PMID:8287539</ref> <ref>PMID:22481068</ref> Genetic variations in APOE are associated with Alzheimer disease type 2 (AD2) [MIM:[http://omim.org/entry/104310 104310]]. It is a late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The APOE4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE4 alleles in 42 families with late onset AD. Thus APOE4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.<ref>PMID:8346443</ref> Defects in APOE are a cause of sea-blue histiocyte disease (SBHD) [MIM:[http://omim.org/entry/269600 269600]]; also known as sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.<ref>PMID:8346443</ref> <ref>PMID:11095479</ref> <ref>PMID:16094309</ref> Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:[http://omim.org/entry/611771 611771]]. LPG is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese origin. The disorder has rarely been described in Caucasians.<ref>PMID:8346443</ref> <ref>PMID:9176854</ref> <ref>PMID:10432380</ref> <ref>PMID:18077821</ref> Defects in APOE are a cause of familial hypercholesterolemia (FH) [MIM:[http://omim.org/entry/143890 143890]]. FH is a condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.<ref>PMID:8346443</ref> <ref>PMID:22949395</ref>
		+	== Function ==
	[[http://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.		[[http://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.
		+	== Evolutionary Conservation ==
		+	[[Image:Consurf_key_small.gif\|200px\|right]]
		+	Check<jmol>
		+	<jmolCheckbox>
		+	<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/nf/1nfo_consurf.spt"</scriptWhenChecked>
		+	<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
		+	<text>to colour the structure by Evolutionary Conservation</text>
		+	</jmolCheckbox>
		+	</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].
		+	<div style="clear:both"></div>
		+	<div style="background-color:#fffaf0;">
		+	== Publication Abstract from PubMed ==
		+	The defective binding of apolipoprotein (apo) E2 to lipoprotein receptors, an underlying cause of type III hyperlipoproteinemia, results from replacement of Arg 158 with Cys, disrupting the naturally occurring salt bridge between Asp 154 and Arg 158. A new bond between Asp 154 and Arg 150 is formed, shifting Arg 150 out of the receptor binding region. Elimination of the 154-150 salt bridge by site-directed mutagenesis of Asp 154 to Ala restored the receptor binding activity to near normal levels. The X-ray crystal structure of apoE2 Ala 154 demonstrated that Arg 150 was relocated within the receptor binding region. Our results demonstrate that defective binding of apoE2 occurs by a novel mechanism of the replacement of one salt bridge with another.

-	~~==About this Structure==~~	+	Novel mechanism for defective receptor binding of apolipoprotein E2 in type III hyperlipoproteinemia.,Dong LM, Parkin S, Trakhanov SD, Rupp B, Simmons T, Arnold KS, Newhouse YM, Innerarity TL, Weisgraber KH Nat Struct Biol. 1996 Aug;3(8):718-22. PMID:8756331<ref>PMID:8756331</ref>
-	~~[[1nfo]] is a 1 chain structure with sequence from [http://en~~.~~wikipedia~~.~~org/wiki/Homo_sapiens Homo sapiens]~~. ~~Full crystallographic information is available from [http~~:/~~/oca.weizmann.ac.il/oca-bin/ocashort?id=1NFO OCA].~~	+

-	==~~Reference~~==	+	From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.<br>
-	~~<ref group="xtra">PMID:008756331</ref>~~<references ~~group="xtra"~~/><~~references~~/>	+	</div>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Parkin, S.]]		[[Category: Parkin, S.]]

OCA at 16:36, 24 March 2013

OCA — Sun, 24 Mar 2013 16:36:58 GMT

←Older revision		Revision as of 16:36, 24 March 2013
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-	[[Image:1nfo.png\|left\|200px]]
-
	{{STRUCTURE_1nfo\| PDB=1nfo \| SCENE= }}		{{STRUCTURE_1nfo\| PDB=1nfo \| SCENE= }}
-
	===APOLIPOPROTEIN E2 (APOE2, D154A MUTATION)===		===APOLIPOPROTEIN E2 (APOE2, D154A MUTATION)===
		+	{{ABSTRACT_PUBMED_8756331}}

-	~~{{ABSTRACT_PUBMED_8756331}}~~	+	==Disease==
		+	[[http://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Defects in APOE are a cause of hyperlipoproteinemia type 3 (HLPP3) [MIM:[http://omim.org/entry/107741 107741]]; also known as familial dysbetalipoproteinemia. Individuals with HLPP3 are clinically characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause. The vast majority of the patients are homozygous for APOE2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE4 variant are at higher risk of CAD.<ref>PMID:8346443</ref><ref>PMID:2556398</ref><ref>PMID:1674745</ref><ref>PMID:8287539</ref><ref>PMID:22481068</ref> Genetic variations in APOE are associated with Alzheimer disease type 2 (AD2) [MIM:[http://omim.org/entry/104310 104310]]. It is a late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. Note=The APOE4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE4 alleles in 42 families with late onset AD. Thus APOE4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.<ref>PMID:8346443</ref> Defects in APOE are a cause of sea-blue histiocyte disease (SBHD) [MIM:[http://omim.org/entry/269600 269600]]; also known as sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.<ref>PMID:8346443</ref><ref>PMID:11095479</ref><ref>PMID:16094309</ref> Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:[http://omim.org/entry/611771 611771]]. LPG is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese origin. The disorder has rarely been described in Caucasians.<ref>PMID:8346443</ref><ref>PMID:9176854</ref><ref>PMID:10432380</ref><ref>PMID:18077821</ref> Defects in APOE are a cause of familial hypercholesterolemia (FH) [MIM:[http://omim.org/entry/143890 143890]]. FH is a condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.<ref>PMID:8346443</ref><ref>PMID:22949395</ref>
		+
		+	==Function==
		+	[[http://www.uniprot.org/uniprot/APOE_HUMAN APOE_HUMAN]] Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.

	==About this Structure==		==About this Structure==
Line 11:		Line 13:

	==Reference==		==Reference==
-	<ref group="xtra">PMID:008756331</ref><references group="xtra"/>	+	<ref group="xtra">PMID:008756331</ref><references group="xtra"/><references/>
	[[Category: Homo sapiens]]		[[Category: Homo sapiens]]
	[[Category: Parkin, S.]]		[[Category: Parkin, S.]]

OCA: Protected "1nfo" [edit=sysop:move=sysop]

OCA — Wed, 05 Dec 2012 20:13:21 GMT

Protected "1nfo" [edit=sysop:move=sysop]

←Older revision

Revision as of 20:13, 5 December 2012