3lrq: Difference between revisions
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{{STRUCTURE_3lrq| PDB=3lrq | SCENE= }} | {{STRUCTURE_3lrq| PDB=3lrq | SCENE= }} | ||
===Crystal structure of the U-box domain of human ubiquitin-protein ligase (E3), NORTHEAST STRUCTURAL GENOMICS CONSORTIUM TARGET HR4604D.=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/TRI37_HUMAN TRI37_HUMAN]] Defects in TRIM37 are the cause of mulibrey nanism (MUL) [MIM:[http://omim.org/entry/253250 253250]]; also known as muscle-liver-brain-eye nanism. MUL is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene. Characteristic features include severe growth failure of prenatal onset and constrictive pericardium with consequent hepatomegaly. In addition, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, typical dysmorphic features and hypoplasia of various endocrine glands causing hormonal deficiency are common.<ref>PMID:15885686</ref><ref>PMID:10888877</ref><ref>PMID:12754710</ref><ref>PMID:15108285</ref><ref>PMID:17100991</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/TRI37_HUMAN TRI37_HUMAN]] E3 ubiquitin-protein ligase.<ref>PMID:15885686</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[3lrq]] 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=3LRQ OCA]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Acton, T B.]] | [[Category: Acton, T B.]] | ||
| Line 31: | Line 29: | ||
[[Category: Tong, L.]] | [[Category: Tong, L.]] | ||
[[Category: Xiao, R.]] | [[Category: Xiao, R.]] | ||
[[Category: Ligase]] | [[Category: Ligase]] | ||
[[Category: Metal-binding]] | [[Category: Metal-binding]] | ||
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[[Category: Peroxisome]] | [[Category: Peroxisome]] | ||
[[Category: Phosphoprotein]] | [[Category: Phosphoprotein]] | ||
[[Category: Protein structure initiative]] | [[Category: Protein structure initiative]] | ||
[[Category: Psi-2]] | [[Category: Psi-2]] | ||
[[Category: Structural genomic]] | [[Category: Structural genomic]] | ||
[[Category: Ubl conjugation pathway]] | [[Category: Ubl conjugation pathway]] | ||
[[Category: Zinc-finger]] | [[Category: Zinc-finger]] | ||