3lrq: Difference between revisions

Revision as of 09:02, 1 November 2017

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

Structural highlights

3lrq is a 4 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:	ZN
NonStd Res:	MSE
Gene:	KIAA0898, MUL, POB1, TRIM37 (HUMAN)
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

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]

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

↑ 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
↑ 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
↑ 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
↑ 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
↑ 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
↑ 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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OCA

[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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@@ Line 43: / Line 43: @@
 [[Category: Tong, L]]
 [[Category: Xiao, R]]
+[[Category: Coiled coil]]
 [[Category: Ligase]]
 [[Category: Metal-binding]]
@@ Line 48: / Line 49: @@
 [[Category: Peroxisome]]
 [[Category: Phosphoprotein]]
+[[Category: Polymorphism]]
 [[Category: PSI, Protein structure initiative]]
+[[Category: Ubl conjugation]]
 [[Category: Ubl conjugation pathway]]
+[[Category: Zinc]]
 [[Category: Zinc-finger]]

3lrq: Difference between revisions

Revision as of 09:02, 1 November 2017

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

Structural highlights

Disease

Function

Evolutionary Conservation

References

Contents

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