2cp9: Difference between revisions
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{{STRUCTURE_2cp9| PDB=2cp9 | SCENE= }} | {{STRUCTURE_2cp9| PDB=2cp9 | SCENE= }} | ||
===Solution structure of RSGI RUH-042, a UBA domain from human mitochondrial elongation factor Ts=== | |||
=== | ==Disease== | ||
[[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> | |||
==Function== | |||
[[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]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hirota, H.]] | [[Category: Hirota, H.]] | ||
Revision as of 21:32, 24 March 2013
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
- ↑ 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
