First time at Proteopedia? Click on the green links: they change the 3D image. Click and drag the molecules. Proteopedia is a 3D, interactive encyclopedia of proteins, RNA, DNA and other molecules. With a free user account, you can edit pages in Proteopedia. Visit the Main Page to learn more.

3lrq

From Proteopedia

Jump to: navigation, search
3lrq, resolution 2.29Å ()
Ligands:
Non-Standard Residues:
Gene: KIAA0898, MUL, POB1, TRIM37 (Homo sapiens)
Resources: FirstGlance, OCA, RCSB, PDBsum
Coordinates: save as pdb, mmCIF, xml


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

Proteopedia Page Contributors and Editors (what is this?)

OCA

Personal tools