Human Gene TSFM (ENST00000540550.6) Description and Page Index
  Description: Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), transcript variant 3, mRNA. (from RefSeq NM_001172695)
RefSeq Summary (NM_001172695): 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: ENST00000540550.6
Gencode Gene: ENSG00000123297.19
Transcript (Including UTRs)
   Position: hg38 chr12:57,782,761-57,797,587 Size: 14,827 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr12:57,782,802-57,796,197 Size: 13,396 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:57,782,761-57,797,587)mRNA (may differ from genome)Protein (167 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
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).
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="";

-  MalaCards Disease Associations
  MalaCards Gene Search: TSFM
Diseases sorted by gene-association score: combined oxidative phosphorylation deficiency 3* (1691), dilated cardiomyopathy* (103), central nervous system mesenchymal non-meningothelial tumor (7), extraosseous ewing's sarcoma (6), horner's syndrome (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.95 RPKM in Adrenal Gland
Total median expression: 110.01 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.4041-0.254 Picture PostScript Text
3' UTR -377.001390-0.271 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001816 - Transl_elong_EFTs/EF1B
IPR014039 - Transl_elong_EFTs/EF1B_dimer
IPR018101 - Transl_elong_Ts_CS
IPR009060 - UBA-like
IPR000449 - UBA/transl_elong_EF1B_N

Pfam Domains:
PF00889 - Elongation factor TS
PF00627 - UBA/TS-N domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help


ModBase Predicted Comparative 3D Structure on P43897
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003746 translation elongation factor activity
GO:0005515 protein binding

Biological Process:
GO:0006412 translation
GO:0006414 translational elongation
GO:0032784 regulation of DNA-templated transcription, elongation
GO:0070125 mitochondrial translational elongation
GO:0070129 regulation of mitochondrial translation

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix

-  Descriptions from all associated GenBank mRNAs
  AK308981 - Homo sapiens cDNA, FLJ99022.
KM576716 - Homo sapiens clone METTL21B-TSFM_M2-T2-T5out mRNA sequence.
LF384691 - JP 2014500723-A/192194: Polycomb-Associated Non-Coding RNAs.
MA620268 - JP 2018138019-A/192194: Polycomb-Associated Non-Coding RNAs.
AK313453 - Homo sapiens cDNA, FLJ93997.
AK304621 - Homo sapiens cDNA FLJ50108 complete cds, highly similar to Elongation factor Ts, mitochondrial precursor.
BC022862 - Homo sapiens Ts translation elongation factor, mitochondrial, mRNA (cDNA clone MGC:23697 IMAGE:4076880), complete cds.
AK295323 - Homo sapiens cDNA FLJ60259 complete cds, highly similar to Elongation factor Ts, mitochondrial precursor.
BC093068 - Homo sapiens Ts translation elongation factor, mitochondrial, mRNA (cDNA clone MGC:111185 IMAGE:30722527), complete cds.
AF110399 - Homo sapiens elongation factor Ts mRNA, nuclear gene encoding mitochondrial protein, complete cds.
KJ898158 - Synthetic construct Homo sapiens clone ccsbBroadEn_07552 TSFM gene, encodes complete protein.
KR711974 - Synthetic construct Homo sapiens clone CCSBHm_00034394 TSFM (TSFM) mRNA, encodes complete protein.
L37936 - Human nuclear-encoded mitochondrial elongation factor Ts (EF-Ts) mRNA, 3' end of cds.
LF324076 - JP 2014500723-A/131579: Polycomb-Associated Non-Coding RNAs.
MA559653 - JP 2018138019-A/131579: Polycomb-Associated Non-Coding RNAs.
LF324075 - JP 2014500723-A/131578: Polycomb-Associated Non-Coding RNAs.
MA559652 - JP 2018138019-A/131578: Polycomb-Associated Non-Coding RNAs.
LF324071 - JP 2014500723-A/131574: Polycomb-Associated Non-Coding RNAs.
MA559648 - JP 2018138019-A/131574: Polycomb-Associated Non-Coding RNAs.
LF324070 - JP 2014500723-A/131573: Polycomb-Associated Non-Coding RNAs.
MA559647 - JP 2018138019-A/131573: Polycomb-Associated Non-Coding RNAs.
LF324069 - JP 2014500723-A/131572: Polycomb-Associated Non-Coding RNAs.
MA559646 - JP 2018138019-A/131572: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P43897 (Reactome details) participates in the following event(s):

R-HSA-5419269 TSFM binds TUFM displacing GDP
R-HSA-5419268 TUFM binds GTP displacing TSFM
R-HSA-5389840 Mitochondrial translation elongation
R-HSA-5368287 Mitochondrial translation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B4E391, EFTS_HUMAN, NM_001172695, P43897, Q561V7, Q8TBC2, Q9UQK0, uc010ssf.1, uc010ssf.2, uc010ssf.3
UCSC ID: uc010ssf.3
RefSeq Accession: NM_001172695
Protein: P43897 (aka EFTS_HUMAN)
CCDS: CCDS53811.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TSFM:
ataxias (Hereditary Ataxia Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.