1n3l
From Proteopedia
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| - | [[Image:1n3l.png|left|200px]] | ||
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{{STRUCTURE_1n3l| PDB=1n3l | SCENE= }} | {{STRUCTURE_1n3l| PDB=1n3l | SCENE= }} | ||
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===Crystal structure of a human aminoacyl-tRNA synthetase cytokine=== | ===Crystal structure of a human aminoacyl-tRNA synthetase cytokine=== | ||
| + | {{ABSTRACT_PUBMED_12427973}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/SYYC_HUMAN SYYC_HUMAN]] Defects in YARS are the cause of Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:[http://omim.org/entry/608323 608323]]. CMTDIC is a form of Charcot-Marie-Tooth disease characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.<ref>PMID:16429158</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/SYYC_HUMAN SYYC_HUMAN]] Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr) (By similarity). | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:012427973</ref><references group="xtra"/> | + | <ref group="xtra">PMID:012427973</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Tyrosine--tRNA ligase]] | [[Category: Tyrosine--tRNA ligase]] | ||
Revision as of 18:02, 24 March 2013
Contents |
Crystal structure of a human aminoacyl-tRNA synthetase cytokine
Template:ABSTRACT PUBMED 12427973
Disease
[SYYC_HUMAN] Defects in YARS are the cause of Charcot-Marie-Tooth disease dominant intermediate type C (CMTDIC) [MIM:608323]. CMTDIC is a form of Charcot-Marie-Tooth disease characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.[1]
Function
[SYYC_HUMAN] Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr) (By similarity).
About this Structure
1n3l is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- Yang XL, Skene RJ, McRee DE, Schimmel P. Crystal structure of a human aminoacyl-tRNA synthetase cytokine. Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15369-74. Epub 2002 Nov 11. PMID:12427973 doi:10.1073/pnas.242611799
- ↑ Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006 Feb;38(2):197-202. Epub 2006 Jan 22. PMID:16429158 doi:10.1038/ng1727
