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| - | {{STRUCTURE_4bxu| PDB=4bxu | SCENE= }} | |
| - | ===Structure of Pex14 in complex with Pex5 LVxEF motif=== | |
| - | {{ABSTRACT_PUBMED_24235149}} | |
| | | | |
| - | ==Disease== | + | ==Structure of Pex14 in complex with Pex5 LVxEF motif== |
| - | [[http://www.uniprot.org/uniprot/PEX14_HUMAN PEX14_HUMAN]] Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/PEX5_HUMAN PEX5_HUMAN]] Defects in PEX5 are the cause of peroxisome biogenesis disorder 2A (PBD2A) [MIM:[http://omim.org/entry/214110 214110]]. A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically 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.<ref>PMID:7719337</ref> Defects in PEX5 are the cause of peroxisome biogenesis disorder 2B (PBD2B) [MIM:[http://omim.org/entry/202370 202370]]. A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. | + | <StructureSection load='4bxu' size='340' side='right'caption='[[4bxu]]' scene=''> |
| - | | + | == Structural highlights == |
| - | ==Function== | + | <table><tr><td colspan='2'>[[4bxu]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4BXU OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=4BXU FirstGlance]. <br> |
| - | [[http://www.uniprot.org/uniprot/PEX14_HUMAN PEX14_HUMAN]] Component of the peroxisomal translocation machinery with PEX13 and PEX17. Interacts with both the PTS1 and PTS2 receptors. Binds directly to PEX17. [[http://www.uniprot.org/uniprot/PEX5_HUMAN PEX5_HUMAN]] Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.<ref>PMID:7719337</ref> <ref>PMID:7790377</ref> <ref>PMID:7706321</ref> | + | </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=4bxu FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4bxu OCA], [https://pdbe.org/4bxu PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=4bxu RCSB], [https://www.ebi.ac.uk/pdbsum/4bxu PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=4bxu ProSAT]</span></td></tr> |
| - | | + | </table> |
| - | ==About this Structure==
| + | == Disease == |
| - | [[4bxu]] is a 2 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4BXU OCA].
| + | [[https://www.uniprot.org/uniprot/PEX14_HUMAN PEX14_HUMAN]] Zellweger syndrome;Neonatal adrenoleukodystrophy;Infantile Refsum disease. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. |
| - | | + | == Function == |
| - | ==Reference==
| + | [[https://www.uniprot.org/uniprot/PEX14_HUMAN PEX14_HUMAN]] Component of the peroxisomal translocation machinery with PEX13 and PEX17. Interacts with both the PTS1 and PTS2 receptors. Binds directly to PEX17. |
| - | <ref group="xtra">PMID:024235149</ref><references group="xtra"/><references/>
| + | __TOC__ |
| - | [[Category: Kooshapur, H.]] | + | </StructureSection> |
| - | [[Category: Madl, T.]] | + | [[Category: Homo sapiens]] |
| - | [[Category: Meyer, H N.]] | + | [[Category: Large Structures]] |
| - | [[Category: Sattler, M.]] | + | [[Category: Kooshapur H]] |
| - | [[Category: Protein transport]] | + | [[Category: Madl T]] |
| - | [[Category: Translocation]] | + | [[Category: Meyer HN]] |
| | + | [[Category: Sattler M]] |
