2q5h
From Proteopedia
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|SITE= | |SITE= | ||
|LIGAND= | |LIGAND= | ||
| - | |ACTIVITY= [http://en.wikipedia.org/wiki/Glycine--tRNA_ligase Glycine--tRNA ligase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=6.1.1.14 6.1.1.14] | + | |ACTIVITY= <span class='plainlinks'>[http://en.wikipedia.org/wiki/Glycine--tRNA_ligase Glycine--tRNA ligase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=6.1.1.14 6.1.1.14] </span> |
|GENE= GARS ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | |GENE= GARS ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens]) | ||
| + | |DOMAIN= | ||
| + | |RELATEDENTRY=[[2q5i|2Q5I]] | ||
| + | |RESOURCES=<span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2q5h FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2q5h OCA], [http://www.ebi.ac.uk/pdbsum/2q5h PDBsum], [http://www.rcsb.org/pdb/explore.do?structureId=2q5h RCSB]</span> | ||
}} | }} | ||
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==Disease== | ==Disease== | ||
| - | Known | + | Known disease associated with this structure: Charcot-Marie-Tooth disease, type 2D OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287 600287]], Neuropathy, distal hereditary motor, type V OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600287 600287]] |
==About this Structure== | ==About this Structure== | ||
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[[Category: structural genomic]] | [[Category: structural genomic]] | ||
| - | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on | + | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Mon Mar 31 04:45:08 2008'' |
Revision as of 01:45, 31 March 2008
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| , resolution 3.0Å | |||||||
|---|---|---|---|---|---|---|---|
| Gene: | GARS (Homo sapiens) | ||||||
| Activity: | Glycine--tRNA ligase, with EC number 6.1.1.14 | ||||||
| Related: | 2Q5I
| ||||||
| Resources: | FirstGlance, OCA, PDBsum, RCSB | ||||||
| Coordinates: | save as pdb, mmCIF, xml | ||||||
Crystal structure of apo-wildtype Glycyl-tRNA synthetase
Contents |
Overview
Dominant mutations in the ubiquitous enzyme glycyl-tRNA synthetase (GlyRS), including S581L, lead to motor nerve degeneration. We have determined crystal structures of wildtype and S581L-mutant human GlyRS. The S581L mutation is approximately 50A from the active site, and yet gives reduced aminoacylation activity. The overall structures of wildtype and S581L-GlyRS, including the active site, are very similar. However, residues 567-575 of the anticodon-binding domain shift position and in turn could indirectly affect glycine binding via the tRNA or alternatively inhibit conformational changes. Reduced enzyme activity may underlie neuronal degeneration, although a dominant-negative effect is more likely in this autosomal dominant disorder.
Disease
Known disease associated with this structure: Charcot-Marie-Tooth disease, type 2D OMIM:[600287], Neuropathy, distal hereditary motor, type V OMIM:[600287]
About this Structure
2Q5H is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy., Cader MZ, Ren J, James PA, Bird LE, Talbot K, Stammers DK, FEBS Lett. 2007 Jun 26;581(16):2959-64. Epub 2007 May 29. PMID:17544401
Page seeded by OCA on Mon Mar 31 04:45:08 2008
Categories: Glycine--tRNA ligase | Homo sapiens | Single protein | Bird, L E. | Cader, M Z. | James, P A. | OPPF, Oxford Protein Production Facility. | Ren, J. | Stammers, D K. | Talbot, K. | Aminoacyl-trna synthetase | Atp-binding | Glycyl-trna synthetase | Oppf | Oxford protein production facility | Structural genomic
