2cp9

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[[Image:2cp9.png|left|200px]]
 
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{{STRUCTURE_2cp9| PDB=2cp9 | SCENE= }}
{{STRUCTURE_2cp9| PDB=2cp9 | SCENE= }}
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===Solution structure of RSGI RUH-042, a UBA domain from human mitochondrial elongation factor Ts===
===Solution structure of RSGI RUH-042, a UBA domain from human mitochondrial elongation factor Ts===
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==Disease==
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[[http://www.uniprot.org/uniprot/EFTS_HUMAN EFTS_HUMAN]] Defects in TSFM are the cause of combined oxidative phosphorylation deficiency type 3 (COXPD3) [MIM:[http://omim.org/entry/610505 610505]]. Defects in the mitochondrial oxidative phosphorylation system result in devastating, mainly multisystem, diseases. COXPD3 symptoms include severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes.<ref>PMID:17033963</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/EFTS_HUMAN EFTS_HUMAN]] Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome (By similarity).[HAMAP-Rule:MF_03135]
==About this Structure==
==About this Structure==
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==See Also==
==See Also==
*[[Elongation factor|Elongation factor]]
*[[Elongation factor|Elongation factor]]
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Hirota, H.]]
[[Category: Hirota, H.]]

Revision as of 21:32, 24 March 2013

Template:STRUCTURE 2cp9

Contents

Solution structure of RSGI RUH-042, a UBA domain from human mitochondrial elongation factor Ts

Disease

[EFTS_HUMAN] Defects in TSFM are the cause of combined oxidative phosphorylation deficiency type 3 (COXPD3) [MIM:610505]. Defects in the mitochondrial oxidative phosphorylation system result in devastating, mainly multisystem, diseases. COXPD3 symptoms include severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes.[1]

Function

[EFTS_HUMAN] Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome (By similarity).[HAMAP-Rule:MF_03135]

About this Structure

2cp9 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

See Also

Reference

  1. ↑ Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet. 2006 Nov;79(5):869-77. Epub 2006 Sep 15. PMID:17033963 doi:S0002-9297(07)60830-1

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OCA

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