4aw6

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{{STRUCTURE_4aw6| PDB=4aw6 | SCENE= }}
 
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===Crystal structure of the human nuclear membrane zinc metalloprotease ZMPSTE24 (FACE1)===
 
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{{ABSTRACT_PUBMED_23539603}}
 
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==Disease==
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==Crystal structure of the human nuclear membrane zinc metalloprotease ZMPSTE24 (FACE1)==
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[[http://www.uniprot.org/uniprot/FACE1_HUMAN FACE1_HUMAN]] Mandibuloacral dysplasia with type B lipodystrophy;Hutchinson-Gilford progeria syndrome;Lethal restrictive dermopathy. Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:[http://omim.org/entry/608612 608612]]: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:12913070</ref> <ref>PMID:17152860</ref> <ref>PMID:18435794</ref> <ref>PMID:20814950</ref> Lethal tight skin contracture syndrome (LTSCS) [MIM:[http://omim.org/entry/275210 275210]]: Rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:15317753</ref>
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<StructureSection load='4aw6' size='340' side='right'caption='[[4aw6]], [[Resolution|resolution]] 3.40&Aring;' scene=''>
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== Structural highlights ==
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<table><tr><td colspan='2'>[[4aw6]] 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=4AW6 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4AW6 FirstGlance]. <br>
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</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 3.4&#8491;</td></tr>
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<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=PC1:1,2-DIACYL-SN-GLYCERO-3-PHOSPHOCHOLINE'>PC1</scene>, <scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=4aw6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4aw6 OCA], [https://pdbe.org/4aw6 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4aw6 RCSB], [https://www.ebi.ac.uk/pdbsum/4aw6 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4aw6 ProSAT]</span></td></tr>
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</table>
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== Disease ==
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[https://www.uniprot.org/uniprot/FACE1_HUMAN FACE1_HUMAN] Mandibuloacral dysplasia with type B lipodystrophy;Hutchinson-Gilford progeria syndrome;Lethal restrictive dermopathy. Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:[https://omim.org/entry/608612 608612]: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:12913070</ref> <ref>PMID:17152860</ref> <ref>PMID:18435794</ref> <ref>PMID:20814950</ref> Lethal tight skin contracture syndrome (LTSCS) [MIM:[https://omim.org/entry/275210 275210]: Rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance. Note=The disease is caused by mutations affecting the gene represented in this entry.<ref>PMID:15317753</ref>
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== Function ==
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[https://www.uniprot.org/uniprot/FACE1_HUMAN FACE1_HUMAN] Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.
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<div style="background-color:#fffaf0;">
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== Publication Abstract from PubMed ==
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Mutations in the nuclear membrane zinc metalloprotease ZMPSTE24 lead to diseases of lamin processing (laminopathies), such as the premature aging disease progeria and metabolic disorders. ZMPSTE24 processes prelamin A, a component of the nuclear lamina intermediate filaments, by cleaving it at two sites. Failure of this processing results in accumulation of farnesylated, membrane-associated prelamin A. The 3.4 angstrom crystal structure of human ZMPSTE24 has a seven transmembrane alpha-helical barrel structure, surrounding a large, water-filled, intramembrane chamber, capped by a zinc metalloprotease domain with the catalytic site facing into the chamber. The 3.8 angstrom structure of a complex with a CSIM tetrapeptide showed that the mode of binding of the substrate resembles that of an insect metalloprotease inhibitor in thermolysin. Laminopathy-associated mutations predicted to reduce ZMPSTE24 activity map to the zinc metalloprotease peptide-binding site and to the bottom of the chamber.
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==Function==
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The structural basis of ZMPSTE24-dependent laminopathies.,Quigley A, Dong YY, Pike AC, Dong L, Shrestha L, Berridge G, Stansfeld PJ, Sansom MS, Edwards AM, Bountra C, von Delft F, Bullock AN, Burgess-Brown NA, Carpenter EP Science. 2013 Mar 29;339(6127):1604-7. doi: 10.1126/science.1231513. PMID:23539603<ref>PMID:23539603</ref>
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[[http://www.uniprot.org/uniprot/FACE1_HUMAN FACE1_HUMAN]] Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.
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==About this Structure==
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From MEDLINE&reg;/PubMed&reg;, a database of the U.S. National Library of Medicine.<br>
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[[4aw6]] is a 4 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=4AW6 OCA].
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</div>
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<div class="pdbe-citations 4aw6" style="background-color:#fffaf0;"></div>
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==Reference==
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== References ==
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<references group="xtra"/><references/>
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<references/>
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__TOC__
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Ste24 endopeptidase]]
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[[Category: Large Structures]]
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[[Category: Arrowsmith, C H.]]
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[[Category: Arrowsmith CH]]
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[[Category: Barr, A J.]]
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[[Category: Barr AJ]]
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[[Category: Berridge, G.]]
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[[Category: Berridge G]]
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[[Category: Bountra, C.]]
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[[Category: Bountra C]]
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[[Category: Bray, J E.]]
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[[Category: Bray JE]]
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[[Category: Bullock, A.]]
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[[Category: Bullock A]]
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[[Category: Burgess-Brown, N.]]
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[[Category: Burgess-Brown N]]
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[[Category: Carpenter, E P.]]
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[[Category: Carpenter EP]]
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[[Category: Chaikuad, A.]]
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[[Category: Chaikuad A]]
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[[Category: Chalk, R.]]
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[[Category: Chalk R]]
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[[Category: Cooper, C D.O.]]
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[[Category: Cooper CDO]]
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[[Category: Delft, F von.]]
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[[Category: Dong L]]
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[[Category: Dong, L.]]
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[[Category: Dong YY]]
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[[Category: Dong, Y Y.]]
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[[Category: Edwards A]]
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[[Category: Edwards, A.]]
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[[Category: Goubin S]]
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[[Category: Goubin, S.]]
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[[Category: Li Q]]
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[[Category: Li, Q.]]
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[[Category: Mukhopadhyay S]]
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[[Category: Mukhopadhyay, S.]]
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[[Category: Pike ACW]]
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[[Category: Pike, A C.W.]]
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[[Category: Quigley A]]
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[[Category: Quigley, A.]]
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[[Category: Shintre CA]]
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[[Category: Shintre, C A.]]
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[[Category: Shrestha L]]
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[[Category: Shrestha, L.]]
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[[Category: Xia X]]
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[[Category: Xia, X.]]
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[[Category: Yang J]]
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[[Category: Yang, J.]]
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[[Category: Von Delft F]]
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[[Category: Ageing]]
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[[Category: Hydrolase]]
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[[Category: Integral membrane protein]]
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[[Category: M48 peptidase]]
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[[Category: Prelamin a processing]]
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[[Category: Progeria]]
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Current revision

Crystal structure of the human nuclear membrane zinc metalloprotease ZMPSTE24 (FACE1)

PDB ID 4aw6

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