3g1n

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{{STRUCTURE_3g1n| PDB=3g1n | SCENE= }}
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==Catalytic domain of the human E3 ubiquitin-protein ligase HUWE1==
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===Catalytic domain of the human E3 ubiquitin-protein ligase HUWE1===
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<StructureSection load='3g1n' size='340' side='right' caption='[[3g1n]], [[Resolution|resolution]] 2.60&Aring;' scene=''>
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== Structural highlights ==
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<table><tr><td colspan='2'>[[3g1n]] 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=3G1N OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3G1N FirstGlance]. <br>
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</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=NA:SODIUM+ION'>NA</scene></td></tr>
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<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">HSPC272, HUWE1, KIAA0312, KIAA1578, UREB1 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr>
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<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=3g1n FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3g1n OCA], [http://www.rcsb.org/pdb/explore.do?structureId=3g1n RCSB], [http://www.ebi.ac.uk/pdbsum/3g1n PDBsum]</span></td></tr>
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</table>
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== Disease ==
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[[http://www.uniprot.org/uniprot/HUWE1_HUMAN HUWE1_HUMAN]] Defects in HUWE1 are the cause of mental retardation syndromic X-linked Turner type (MRXST) [MIM:[http://omim.org/entry/300706 300706]]; also known as mental retardation and macrocephaly syndrome. MRXST shows clinical variability. Associated phenotypes include macrocephaly and variable contractures. A chromosomal microduplication involving HUWE1 and HSD17B10 is the cause of mental retardation X-linked type 17 (MRX17) [MIM:[http://omim.org/entry/300705 300705]]; also known as mental retardation X-linked type 31 (MRX31). Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation.<ref>PMID:18252223</ref>
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== Function ==
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[[http://www.uniprot.org/uniprot/HUWE1_HUMAN HUWE1_HUMAN]] E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation.<ref>PMID:15989956</ref> <ref>PMID:15989957</ref> <ref>PMID:15767685</ref> <ref>PMID:15567145</ref> <ref>PMID:17567951</ref> <ref>PMID:18488021</ref> <ref>PMID:19713937</ref>
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== Evolutionary Conservation ==
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[[Image:Consurf_key_small.gif|200px|right]]
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Check<jmol>
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<jmolCheckbox>
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<scriptWhenChecked>select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/g1/3g1n_consurf.spt"</scriptWhenChecked>
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<scriptWhenUnchecked>script /wiki/extensions/Proteopedia/spt/initialview01.spt</scriptWhenUnchecked>
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<text>to colour the structure by Evolutionary Conservation</text>
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</jmolCheckbox>
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</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/chain_selection.php?pdb_ID=2ata ConSurf].
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<div style="clear:both"></div>
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==Disease==
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==See Also==
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[[http://www.uniprot.org/uniprot/HUWE1_HUMAN HUWE1_HUMAN]] Defects in HUWE1 are the cause of mental retardation syndromic X-linked Turner type (MRXST) [MIM:[http://omim.org/entry/300706 300706]]; also known as mental retardation and macrocephaly syndrome. MRXST shows clinical variability. Associated phenotypes include macrocephaly and variable contractures. A chromosomal microduplication involving HUWE1 and HSD17B10 is the cause of mental retardation X-linked type 17 (MRX17) [MIM:[http://omim.org/entry/300705 300705]]; also known as mental retardation X-linked type 31 (MRX31). Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation.<ref>PMID:18252223</ref>
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*[[Ubiquitin protein ligase|Ubiquitin protein ligase]]
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== References ==
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==Function==
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<references/>
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[[http://www.uniprot.org/uniprot/HUWE1_HUMAN HUWE1_HUMAN]] E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Mediates monoubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair. Also ubiquitinates the p53/TP53 tumor suppressor and core histones including H1, H2A, H2B, H3 and H4. Binds to an upstream initiator-like sequence in the preprodynorphin gene. Regulates neural differentiation and proliferation by catalyzing the polyubiquitination and degradation of MYCN. May regulate abundance of CDC6 after DNA damage by polyubiquitinating and targeting CDC6 to degradation.<ref>PMID:15989956</ref><ref>PMID:15989957</ref><ref>PMID:15767685</ref><ref>PMID:15567145</ref><ref>PMID:17567951</ref><ref>PMID:18488021</ref><ref>PMID:19713937</ref>
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__TOC__
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</StructureSection>
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==About this Structure==
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[[3g1n]] 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=3G1N OCA].
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==Reference==
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<references group="xtra"/><references/>
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[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Arrowsmith, C H.]]
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[[Category: Arrowsmith, C H]]
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[[Category: Botchkarev, A.]]
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[[Category: Botchkarev, A]]
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[[Category: Bountra, C.]]
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[[Category: Bountra, C]]
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[[Category: Davis, T.]]
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[[Category: Davis, T]]
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[[Category: Dhe-Paganon, S.]]
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[[Category: Dhe-Paganon, S]]
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[[Category: Edwards, A M.]]
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[[Category: Edwards, A M]]
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[[Category: Li, Y.]]
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[[Category: Li, Y]]
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[[Category: Qiu, L.]]
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[[Category: Qiu, L]]
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[[Category: SGC, Structural Genomics Consortium.]]
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[[Category: Structural genomic]]
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[[Category: Tempel, W.]]
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[[Category: Tempel, W]]
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[[Category: Walker, J R.]]
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[[Category: Walker, J R]]
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[[Category: Weigelt, J.]]
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[[Category: Weigelt, J]]
[[Category: Differentiation]]
[[Category: Differentiation]]
[[Category: Disease mutation]]
[[Category: Disease mutation]]
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[[Category: Phosphoprotein]]
[[Category: Phosphoprotein]]
[[Category: Sgc]]
[[Category: Sgc]]
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[[Category: Structural genomic]]
 
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[[Category: Structural genomics consortium]]
 
[[Category: Ubl conjugation pathway]]
[[Category: Ubl conjugation pathway]]
[[Category: Ubl-conjugation pathway]]
[[Category: Ubl-conjugation pathway]]

Revision as of 13:35, 18 December 2014

Catalytic domain of the human E3 ubiquitin-protein ligase HUWE1

3g1n, resolution 2.60Å

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