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Aliases for TSFM Gene

Aliases for TSFM Gene

  • Ts Translation Elongation Factor, Mitochondrial 2 3
  • EF-TsMt 3 4
  • EF-Ts 3 4
  • Elongation Factor Ts, Mitochondrial 3
  • Mitochondrial Elongation Factor Ts 3
  • EFTSMT 3
  • COXPD3 6
  • EFTS 3

External Ids for TSFM Gene

Summaries for TSFM Gene

Entrez Gene Summary for TSFM Gene

  • 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]

GeneCards Summary for TSFM Gene

TSFM (Ts Translation Elongation Factor, Mitochondrial) is a Protein Coding gene. Diseases associated with TSFM include combined oxidative phosphorylation deficiency 3 and fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3. GO annotations related to this gene include translation elongation factor activity.

UniProtKB/Swiss-Prot for TSFM Gene

  • 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.

Gene Wiki entry for TSFM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSFM Gene

Genomics for TSFM Gene

Genomic Location for TSFM Gene

Start:
57,782,589 bp from pter
End:
57,808,071 bp from pter
Size:
25,483 bases
Orientation:
Plus strand

Genomic View for TSFM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TSFM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSFM Gene

Regulatory Elements for TSFM Gene

Proteins for TSFM Gene

  • Protein details for TSFM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43897-EFTS_HUMAN
    Recommended name:
    Elongation factor Ts, mitochondrial
    Protein Accession:
    P43897
    Secondary Accessions:
    • B4E391
    • F5H2T7
    • Q561V7
    • Q8TBC2
    • Q9UQK0

    Protein attributes for TSFM Gene

    Size:
    325 amino acids
    Molecular mass:
    35391 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TSFM Gene

    Alternative splice isoforms for TSFM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSFM Gene

Proteomics data for TSFM Gene at MOPED

Post-translational modifications for TSFM Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys192

No data available for DME Specific Peptides for TSFM Gene

Domains for TSFM Gene

UniProtKB/Swiss-Prot:

EFTS_HUMAN
Family:
  • Belongs to the EF-Ts family.:
    • P43897
genes like me logo Genes that share domains with TSFM: view

No data available for Gene Families for TSFM Gene

Function for TSFM Gene

Molecular function for TSFM Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for TSFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 translation elongation factor activity IEA --
GO:0005515 protein binding --
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with TSFM: view

Phenotypes for TSFM Gene

genes like me logo Genes that share phenotypes with TSFM: view

miRNA for TSFM Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TSFM Gene

Localization for TSFM Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSFM Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TSFM Gene COMPARTMENTS Subcellular localization image for TSFM gene
Compartment Confidence
mitochondrion 5
nucleus 4
chloroplast 1
extracellular 1

Gene Ontology (GO) - Cellular Components for TSFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with TSFM: view

Pathways for TSFM Gene

SuperPathways for TSFM Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006414 translational elongation TAS 7615523
GO:0006996 organelle organization TAS --
GO:0032543 mitochondrial translation TAS --
GO:0032784 regulation of DNA-templated transcription, elongation TAS 7615523
GO:0070125 mitochondrial translational elongation TAS --
genes like me logo Genes that share ontologies with TSFM: view

No data available for Pathways by source for TSFM Gene

Compounds for TSFM Gene

(1) HMDB Compounds for TSFM Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(5) Novoseek inferred chemical compound relationships for TSFM Gene

Compound -log(P) Hits PubMed IDs
gdp 79.3 9
aminoacyl-trna 77.6 2
gtp 71.1 13
phenylalanine 25.3 1
magnesium 13.2 1
genes like me logo Genes that share compounds with TSFM: view

Transcripts for TSFM Gene

Unigene Clusters for TSFM Gene

Ts translation elongation factor, mitochondrial:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TSFM Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
SP1: - - -
SP2: - - - -
SP3: -
SP4: - - -
SP5: - -

Relevant External Links for TSFM Gene

GeneLoc Exon Structure for
TSFM
ECgene alternative splicing isoforms for
TSFM

Expression for TSFM Gene

mRNA expression in normal human tissues for TSFM Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TSFM Gene

SOURCE GeneReport for Unigene cluster for TSFM Gene Hs.632704

mRNA Expression by UniProt/SwissProt for TSFM Gene

P43897-EFTS_HUMAN
Tissue specificity: Expressed in all tissues, with the highest levels of expression in skeletal muscle, liver and kidney
genes like me logo Genes that share expressions with TSFM: view

Orthologs for TSFM Gene

This gene was present in the common ancestor of animals.

Orthologs for TSFM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSFM 36
  • 99.23 (n)
  • 98.84 (a)
TSFM 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TSFM 36
  • 87.97 (n)
  • 88.18 (a)
TSFM 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TSFM 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tsfm 36
  • 84.72 (n)
  • 86.54 (a)
Tsfm 16
Tsfm 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSFM 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tsfm 36
  • 84.62 (n)
  • 85.9 (a)
lizard
(Anolis carolinensis)
Reptilia TSFM 37
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16462 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10593 36
tsfm 36
  • 63.28 (n)
  • 64.41 (a)
zebrafish
(Danio rerio)
Actinopterygii tsfm 36
  • 56.9 (n)
  • 52.07 (a)
tsfm 37
  • 49 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009234 36
  • 51.59 (n)
  • 47.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6412 36
  • 49.94 (n)
  • 42.59 (a)
CG6412 37
  • 36 (a)
OneToOne
CG6412 38
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea tsfm-1 36
  • 45.43 (n)
  • 38.22 (a)
tsfm-1 37
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 31 (a)
OneToOne
Species with no ortholog for TSFM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TSFM Gene

ENSEMBL:
Gene Tree for TSFM (if available)
TreeFam:
Gene Tree for TSFM (if available)

Paralogs for TSFM Gene

No data available for Paralogs for TSFM Gene

Variants for TSFM Gene

Sequence variations from dbSNP and Humsavar for TSFM Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs724834 -- 57,786,633(+) GAGGA(C/G)GTTTG intron-variant
rs1599932 -- 57,784,160(-) tgtta(C/T)aactg intron-variant
rs2014886 -- 57,783,654(-) ATCGT(A/G)CCATT intron-variant
rs4301823 -- 57,792,811(+) GGTCT(C/T)AAACT intron-variant
rs4608121 -- 57,792,654(+) TTGGC(A/G)TAATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TSFM Gene

Variant ID Type Subtype PubMed ID
nsv899121 CNV Loss 21882294
nsv470296 CNV Loss 18288195
nsv510601 CNV Loss 20534489
nsv470297 CNV Gain 18288195

Relevant External Links for TSFM Gene

HapMap Linkage Disequilibrium report
TSFM
Human Gene Mutation Database (HGMD)
TSFM

Disorders for TSFM Gene

(1) OMIM Diseases for TSFM Gene (604723)

UniProtKB/Swiss-Prot

EFTS_HUMAN
  • Combined oxidative phosphorylation deficiency 3 (COXPD3) [MIM:610505]: A mitochondrial disease resulting in 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. {ECO:0000269 PubMed:17033963, ECO:0000269 PubMed:22499341}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TSFM

Genetic Association Database (GAD)
TSFM
Human Genome Epidemiology (HuGE) Navigator
TSFM
genes like me logo Genes that share disorders with TSFM: view

Publications for TSFM Gene

  1. Cloning and expression of mitochondrial translational elongation factor Ts from bovine and human liver. (PMID: 7615523) Xin H. … Spremulli L.L. (J. Biol. Chem. 1995) 2 3 4 23
  2. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. (PMID: 17033963) Smeitink J.A.M. … Shoubridge E.A. (Am. J. Hum. Genet. 2006) 3 4 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  5. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. (PMID: 16632485) Antonicka H. … Shoubridge E.A. (Hum. Mol. Genet. 2006) 3 23

Products for TSFM Gene

Sources for TSFM Gene

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