3lrq

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[[Image:3lrq.jpg|left|200px]]
 
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{{STRUCTURE_3lrq| PDB=3lrq | SCENE= }}
{{STRUCTURE_3lrq| PDB=3lrq | SCENE= }}
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===Crystal structure of the U-box domain of human ubiquitin-protein ligase (E3), NORTHEAST STRUCTURAL GENOMICS CONSORTIUM TARGET HR4604D.===
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===Crystal structure of the U-box domain of human ubiquitin-protein ligase (E3), NORTHEAST STRUCTURAL GENOMICS CONSORTIUM TARGET HR4604D.===
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==Disease==
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[[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>
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==Function==
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[[http://www.uniprot.org/uniprot/TRI37_HUMAN TRI37_HUMAN]] E3 ubiquitin-protein ligase.<ref>PMID:15885686</ref>
==About this Structure==
==About this Structure==
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3LRQ is a 4 chains structure with sequences 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].
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[[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].
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==Reference==
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<references group="xtra"/><references/>
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Mar 24 09:06:46 2010''
 

Revision as of 18:05, 24 March 2013

Template:STRUCTURE 3lrq

Contents

Crystal structure of the U-box domain of human ubiquitin-protein ligase (E3), NORTHEAST STRUCTURAL GENOMICS CONSORTIUM TARGET HR4604D.

Disease

[TRI37_HUMAN] Defects in TRIM37 are the cause of mulibrey nanism (MUL) [MIM: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.[1][2][3][4][5]

Function

[TRI37_HUMAN] E3 ubiquitin-protein ligase.[6]

About this Structure

3lrq is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  1. ↑ Kallijarvi J, Lahtinen U, Hamalainen R, Lipsanen-Nyman M, Palvimo JJ, Lehesjoki AE. TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. Exp Cell Res. 2005 Aug 1;308(1):146-55. PMID:15885686 doi:10.1016/j.yexcr.2005.04.001
  2. ↑ Avela K, Lipsanen-Nyman M, Idanheimo N, Seemanova E, Rosengren S, Makela TP, Perheentupa J, Chapelle AD, Lehesjoki AE. Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat Genet. 2000 Jul;25(3):298-301. PMID:10888877 doi:10.1038/77053
  3. ↑ Jagiello P, Hammans C, Wieczorek S, Arning L, Stefanski A, Strehl H, Epplen JT, Gencik M. A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. Hum Mutat. 2003 Jun;21(6):630-5. PMID:12754710 doi:10.1002/humu.10220
  4. ↑ Hamalainen RH, Avela K, Lambert JA, Kallijarvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE. Novel mutations in the TRIM37 gene in Mulibrey Nanism. Hum Mutat. 2004 May;23(5):522. PMID:15108285 doi:10.1002/humu.9233
  5. ↑ Hamalainen RH, Mowat D, Gabbett MT, O'brien TA, Kallijarvi J, Lehesjoki AE. Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism. Clin Genet. 2006 Dec;70(6):473-9. PMID:17100991 doi:10.1111/j.1399-0004.2006.00700.x
  6. ↑ Kallijarvi J, Lahtinen U, Hamalainen R, Lipsanen-Nyman M, Palvimo JJ, Lehesjoki AE. TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase. Exp Cell Res. 2005 Aug 1;308(1):146-55. PMID:15885686 doi:10.1016/j.yexcr.2005.04.001

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