3ajb

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{{STRUCTURE_3ajb| PDB=3ajb | SCENE= }}
 
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===Crystal Structure of human Pex3p in complex with N-terminal Pex19p peptide===
 
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{{ABSTRACT_PUBMED_21102411}}
 
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==Disease==
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==Crystal Structure of human Pex3p in complex with N-terminal Pex19p peptide==
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[[http://www.uniprot.org/uniprot/Q6FGP5_HUMAN Q6FGP5_HUMAN]] Defects in PEX3 are the cause of peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:[http://omim.org/entry/614882 614882]]; also known as PBD-CGG. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies.<ref>PMID:10958759</ref> Defects in PEX3 are a cause of peroxisome biogenesis disorder 10A (PBD10A) [MIM:[http://omim.org/entry/614882 614882]]. A fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life.<ref>PMID:10848631</ref><ref>PMID:10958759</ref> [[http://www.uniprot.org/uniprot/PEX19_HUMAN PEX19_HUMAN]] Defects in PEX19 are the cause of peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:[http://omim.org/entry/614886 614886]]; also known as PBD-CGJ. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies.<ref>PMID:20683989</ref> Defects in PEX19 are the cause of peroxisome biogenesis disorder 12A (PBD12A) [MIM:[http://omim.org/entry/614886 614886]]. A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
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<StructureSection load='3ajb' size='340' side='right'caption='[[3ajb]], [[Resolution|resolution]] 2.50&Aring;' scene=''>
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== Structural highlights ==
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==Function==
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<table><tr><td colspan='2'>[[3ajb]] 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=3AJB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3AJB FirstGlance]. <br>
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[[http://www.uniprot.org/uniprot/Q6FGP5_HUMAN Q6FGP5_HUMAN]] Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes.<ref>PMID:10848631</ref><ref>PMID:15007061</ref> [[http://www.uniprot.org/uniprot/PEX19_HUMAN PEX19_HUMAN]] Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.<ref>PMID:10051604</ref><ref>PMID:10704444</ref><ref>PMID:11259404</ref><ref>PMID:11883941</ref><ref>PMID:15007061</ref><ref>PMID:14709540</ref>
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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]] 2.5&#8491;</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=3ajb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3ajb OCA], [https://pdbe.org/3ajb PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3ajb RCSB], [https://www.ebi.ac.uk/pdbsum/3ajb PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3ajb ProSAT]</span></td></tr>
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==About this Structure==
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</table>
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[[3ajb]] is a 2 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=3AJB OCA].
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== Disease ==
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[https://www.uniprot.org/uniprot/PEX3_HUMAN PEX3_HUMAN] Defects in PEX3 are the cause of peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:[https://omim.org/entry/614882 614882]; also known as PBD-CGG. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies.<ref>PMID:10958759</ref> Defects in PEX3 are a cause of peroxisome biogenesis disorder 10A (PBD10A) [MIM:[https://omim.org/entry/614882 614882]. A fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life.<ref>PMID:10848631</ref> <ref>PMID:10958759</ref>
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==Reference==
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== Function ==
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<ref group="xtra">PMID:021102411</ref><references group="xtra"/><references/>
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[https://www.uniprot.org/uniprot/PEX3_HUMAN PEX3_HUMAN] Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes.<ref>PMID:10848631</ref> <ref>PMID:15007061</ref>
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== 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: Kato, H.]]
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[[Category: Large Structures]]
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[[Category: Nakatsu, T.]]
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[[Category: Kato H]]
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[[Category: Sato, Y.]]
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[[Category: Nakatsu T]]
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[[Category: Shibata, H.]]
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[[Category: Sato Y]]
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[[Category: All alpha]]
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[[Category: Shibata H]]
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[[Category: Protein transport]]
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[[Category: Protein-protein complex]]
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Current revision

Crystal Structure of human Pex3p in complex with N-terminal Pex19p peptide

PDB ID 3ajb

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