Human Gene TSFM (ENST00000543727.5) Description and Page Index
Description: Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), transcript variant 4, mRNA. (from RefSeq NM_001172697) RefSeq Summary (NM_001172697): This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]. Gencode Transcript: ENST00000543727.5 Gencode Gene: ENSG00000123297.19 Transcript (Including UTRs) Position: hg38 chr12:57,782,799-57,802,631 Size: 19,833 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chr12:57,782,802-57,802,631 Size: 19,830 Coding Exon Count: 6
ID:EFTS_HUMAN DESCRIPTION: RecName: Full=Elongation factor Ts, mitochondrial; Short=EF-Ts; Short=EF-TsMt; Flags: Precursor; FUNCTION: 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). SUBCELLULAR LOCATION: Mitochondrion. TISSUE SPECIFICITY: Expressed in all tissues, with the highest levels of expression in skeletal muscle, liver and kidney. DISEASE: 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. SIMILARITY: Belongs to the EF-Ts family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TSFM";
ModBase Predicted Comparative 3D Structure on P43897
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.