1av1: Difference between revisions

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-[[Image:1av1.gif|left|200px]]
- {{Structure
+==CRYSTAL STRUCTURE OF HUMAN APOLIPOPROTEIN A-I==
-|PDB= 1av1 |SIZE=350|CAPTION= <scene name='initialview01'>1av1</scene>, resolution 4.0&Aring;
+<StructureSection load='1av1' size='340' side='right'caption='[[1av1]], [[Resolution|resolution]] 4.00&Aring;' scene=''>
-|SITE=
+== Structural highlights ==
-|LIGAND=
+<table><tr><td colspan='2'>[[1av1]] is a 4 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=1AV1 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1AV1 FirstGlance]. <br>
-|ACTIVITY=
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 4&#8491;</td></tr>
-|GENE=
+<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1av1 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1av1 OCA], [https://pdbe.org/1av1 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1av1 RCSB], [https://www.ebi.ac.uk/pdbsum/1av1 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1av1 ProSAT]</span></td></tr>
-}}
+</table>
+== Disease ==
-'''CRYSTAL STRUCTURE OF HUMAN APOLIPOPROTEIN A-I'''
+[https://www.uniprot.org/uniprot/APOA1_HUMAN APOA1_HUMAN] Defects in APOA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) [MIM:[https://omim.org/entry/604091 604091]; also known as familial hypoalphalipoproteinemia (FHA). Inheritance is autosomal dominant.<ref>PMID:8240372</ref> <ref>PMID:8282791</ref>   Defects in APOA1 are a cause of the low HDL levels observed in high density lipoprotein deficiency type 1 (HDLD1) [MIM:[https://omim.org/entry/205400 205400]; also known as analphalipoproteinemia or Tangier disease (TGD). HDLD1 is a recessive disorder characterized by the absence of plasma HDL, accumulation of cholesteryl esters, premature coronary artery disease, hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. In HDLD1 patients, ApoA-I fails to associate with HDL probably because of the faulty conversion of pro-ApoA-I molecules into mature chains, either due to a defect in the converting enzyme activity or a specific structural defect in Tangier ApoA-I.<ref>PMID:8240372</ref> <ref>PMID:8282791</ref>   Note=A mutation in APOA1 is the cause of amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA); also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III. AMYLIOWA is a hereditary generalized amyloidosis due to deposition of amyloid mainly constituted by apolipoprotein A1. The clinical picture is dominated by neuropathy in the early stages of the disease and nephropathy late in the course. Death is due in most cases to renal amyloidosis. Severe peptic ulcer disease can occurr in some and hearing loss is frequent. Cataracts is present in several, but vitreous opacities are not observed.<ref>PMID:8240372</ref> <ref>PMID:8282791</ref> <ref>PMID:3142462</ref> <ref>PMID:2123470</ref>   Defects in APOA1 are a cause of amyloidosis type 8 (AMYL8) [MIM:[https://omim.org/entry/105200 105200]; also known as systemic non-neuropathic amyloidosis or Ostertag-type amyloidosis. AMYL8 is a hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash.<ref>PMID:8240372</ref> <ref>PMID:8282791</ref> <ref>PMID:1502149</ref>
+== Function ==
+[https://www.uniprot.org/uniprot/APOA1_HUMAN APOA1_HUMAN] Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility.<ref>PMID:1909888</ref>
-==Overview==
+== Evolutionary Conservation ==
-The structure of truncated human apolipoprotein A-I (apo A-I), the major protein component of high density lipoprotein, has been determined at 4-A resolution. The crystals comprise residues 44-243 (exon 4) of apo A-I, a fragment that binds to lipid similarly to intact apo A-I and that retains the lipid-bound conformation even in the absence of lipid. The molecule consists almost entirely of a pseudo-continuous, amphipathic alpha-helix that is punctuated by kinks at regularly spaced proline residues; it adopts a shape similar to a horseshoe of dimensions 125 x 80 x 40 A. Four molecules in the asymmetric unit associate via their hydrophobic faces to form an antiparallel four-helix bundle with an elliptical ring shape. Based on this structure, we propose a model for the structure of apo A-I bound to high density lipoprotein.
+[[Image:Consurf_key_small.gif|200px|right]]
+Check<jmol>
-==Disease==
+  <jmolCheckbox>
-Known diseases associated with this structure: Amyloidosis, 3 or more types OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680 107680]], ApoA-I and apoC-III deficiency, combined OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680 107680]], Corneal clouding, autosomal recessive OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680 107680]], Hypertriglyceridemia, one form OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680 107680]], Hypoalphalipoproteinemia OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107680 107680]]
+    <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/av/1av1_consurf.spt"</scriptWhenChecked>
+    <scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
-==About this Structure==
+    <text>to colour the structure by Evolutionary Conservation</text>
-AV1 is a [[Single protein]] structure of 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=1AV1 OCA].
+  </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/main_output.php?pdb_ID=1av1 ConSurf].
-==Reference==
+<div style="clear:both"></div>
-Crystal structure of truncated human apolipoprotein A-I suggests a lipid-bound conformation., Borhani DW, Rogers DP, Engler JA, Brouillette CG, Proc Natl Acad Sci U S A. 1997 Nov 11;94(23):12291-6. PMID:[http://www.ncbi.nlm.nih.gov/pubmed/9356442 9356442]
+== References ==
+<references/>
+__TOC__
+</StructureSection>
 [[Category: Homo sapiens]]
-[[Category: Single protein]]
+[[Category: Large Structures]]
-[[Category: Borhani, D W.]]
+[[Category: Borhani DW]]
-[[Category: Brouillette, C G.]]
+[[Category: Brouillette CG]]
-[[Category: Engler, J A.]]
+[[Category: Engler JA]]
-[[Category: Rogers, D P.]]
+[[Category: Rogers DP]]
-[[Category: atherosclerosis]]
-[[Category: cholesterol metabolism]]
-[[Category: hdl]]
-[[Category: lcat-activation]]
-[[Category: lipid transport]]
-[[Category: lipoprotein]]
-''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Thu Mar 20 10:02:37 2008''