2qz4: Difference between revisions

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==Human paraplegin, AAA domain in complex with ADP==
==Human paraplegin, AAA domain in complex with ADP==
<StructureSection load='2qz4' size='340' side='right' caption='[[2qz4]], [[Resolution|resolution]] 2.22&Aring;' scene=''>
<StructureSection load='2qz4' size='340' side='right'caption='[[2qz4]], [[Resolution|resolution]] 2.22&Aring;' scene=''>
== Structural highlights ==
== Structural highlights ==
<table><tr><td colspan='2'>[[2qz4]] 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=2QZ4 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2QZ4 FirstGlance]. <br>
<table><tr><td colspan='2'>[[2qz4]] 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=2QZ4 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2QZ4 FirstGlance]. <br>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene></td></tr>
</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=ADP:ADENOSINE-5-DIPHOSPHATE'>ADP</scene></td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SPG7 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">SPG7 ([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://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2qz4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2qz4 OCA], [http://pdbe.org/2qz4 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2qz4 RCSB], [http://www.ebi.ac.uk/pdbsum/2qz4 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2qz4 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=2qz4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2qz4 OCA], [https://pdbe.org/2qz4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2qz4 RCSB], [https://www.ebi.ac.uk/pdbsum/2qz4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2qz4 ProSAT]</span></td></tr>
</table>
</table>
== Disease ==
== Disease ==
[[http://www.uniprot.org/uniprot/SPG7_HUMAN SPG7_HUMAN]] Defects in SPG7 are the cause of spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:[http://omim.org/entry/607259 607259]]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.<ref>PMID:9635427</ref> <ref>PMID:16534102</ref> <ref>PMID:17646629</ref> <ref>PMID:20186691</ref>  Note=Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera.  
[[https://www.uniprot.org/uniprot/SPG7_HUMAN SPG7_HUMAN]] Defects in SPG7 are the cause of spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:[https://omim.org/entry/607259 607259]]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.<ref>PMID:9635427</ref> <ref>PMID:16534102</ref> <ref>PMID:17646629</ref> <ref>PMID:20186691</ref>  Note=Defects in SPG7 may cause autosomal recessive osteogenesis imperfecta (OI). Osteogenesis imperfecta defines a group of connective tissue disorders characterized by bone fragility and low bone mass. Clinical features of SPG7-related osteogenesis imperfecta include recurrent fractures, mild bone deformities, delayed tooth eruption, normal hearing and white sclera.  
== Function ==
== Function ==
[[http://www.uniprot.org/uniprot/SPG7_HUMAN SPG7_HUMAN]] Putative ATP-dependent zinc metalloprotease.  
[[https://www.uniprot.org/uniprot/SPG7_HUMAN SPG7_HUMAN]] Putative ATP-dependent zinc metalloprotease.  
== Evolutionary Conservation ==
== Evolutionary Conservation ==
[[Image:Consurf_key_small.gif|200px|right]]
[[Image:Consurf_key_small.gif|200px|right]]
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</StructureSection>
</StructureSection>
[[Category: Human]]
[[Category: Human]]
[[Category: Large Structures]]
[[Category: Arrowsmith, C H]]
[[Category: Arrowsmith, C H]]
[[Category: Berg, S Van Den]]
[[Category: Berg, S Van Den]]
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