2cp9

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

Structural highlights

2cp9 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:Solution NMR
Resources:FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT, TOPSAN

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]

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

See Also

References

  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

Contents


PDB ID 2cp9

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