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Aliases for TSFM Gene

Aliases for TSFM Gene

  • Ts Translation Elongation Factor, Mitochondrial 2 3 5
  • EF-TsMt 3 4
  • EF-Ts 3 4
  • Elongation Factor Ts, Mitochondrial 3
  • Mitochondrial Elongation Factor Ts 3
  • EFTSMT 3
  • EFTS 3

External Ids for TSFM Gene

Previous GeneCards Identifiers for TSFM Gene

  • GC12P058319
  • GC12P057893
  • GC12P056462
  • GC12P058167
  • GC12P055213
  • GC12P058176

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 Dilated Cardiomyopathy. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include poly(A) RNA binding and 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSFM Gene

Genomics for TSFM Gene

Regulatory Elements for TSFM Gene

Enhancers for TSFM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G057733 1.7 FANTOM5 Ensembl ENCODE 43 -44.1 -44133 9.6 HDGF ARID4B ZNF143 ZNF548 SP3 REST ZNF662 SMARCA4 GLIS1 HMBOX1 TSFM NEMP1 ARHGAP9 ATP23 CTDSP2 AGAP2 DDIT3 KIF5A MARCH9 MBD6
GH12G057830 2 FANTOM5 Ensembl ENCODE dbSUPER 35 +56.9 56891 17.0 MLX FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ZNF610 GLIS1 EEF1AKMT3 TSFM ATP23 METTL1 CTDSP2 TSPAN31 CDK4 AGAP2 LOC283387 PIR34053
GH12G057743 1.1 ENCODE 59 -37.5 -37468 2.7 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A ZNF2 YY1 ZNF766 ZNF143 TSFM CYP27B1 METTL1 EEF1AKMT3 NEMP1 DDIT3 MBD6 MIR616 ATP23 TSPAN31
GH12G057782 1.2 ENCODE 52.5 +0.4 429 1.9 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 TSFM NAB2 ENSG00000224713 ATP23 ENSG00000270039
GH12G057793 1.1 FANTOM5 ENCODE 52.1 +11.5 11514 1.5 JUN FOSL1 ZNF121 CTBP1 GATA3 GATA2 FOSL2 FOS SMARCE1 STAT1 TSFM EEF1AKMT3 MIR26A2 METTL1 CYP27B1 DDIT3 OS9 ENSG00000270039
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TSFM on UCSC Golden Path with GeneCards custom track

Promoters for TSFM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052705 355 1001 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3

Genomic Location for TSFM Gene

Chromosome:
12
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

Genes around TSFM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSFM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSFM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TSFM Gene

  • Ubiquitination at Lys192
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TSFM Gene

Domains & Families for TSFM Gene

Graphical View of Domain Structure for InterPro Entry

P43897

UniProtKB/Swiss-Prot:

EFTS_HUMAN :
  • Belongs to the EF-Ts family.
Family:
  • Belongs to the EF-Ts family.
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:0003723 RNA binding IDA 22681889
GO:0003746 translation elongation factor activity IBA --
GO:0005515 protein binding IPI 25910212
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

Human Phenotype Ontology for TSFM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TSFM Gene

MGI Knock Outs for TSFM:
  • Tsfm tm1a(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for TSFM Gene

Inhibitory RNA Products

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

Localization for TSFM Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSFM Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSFM gene
Compartment Confidence
mitochondrion 5
nucleus 5
extracellular 1

Gene Ontology (GO) - Cellular Components for TSFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion TAS,IDA --
GO:0005759 mitochondrial matrix IBA --
genes like me logo Genes that share ontologies with TSFM: view

Pathways & Interactions for TSFM Gene

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

Pathways by source for TSFM Gene

Gene Ontology (GO) - Biological Process for TSFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006414 translational elongation TAS 7615523
GO:0032784 regulation of DNA-templated transcription, elongation TAS 7615523
GO:0070125 mitochondrial translational elongation IBA --
GO:0070129 regulation of mitochondrial translation IDA 27677415
genes like me logo Genes that share ontologies with TSFM: view

No data available for SIGNOR curated interactions for TSFM Gene

Drugs & Compounds for TSFM Gene

(3) Drugs for TSFM Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for TSFM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TSFM Gene

Protein differential expression in normal tissues from HIPED for TSFM Gene

This gene is overexpressed in Brain (9.1) and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TSFM Gene



Protein tissue co-expression partners for TSFM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TSFM Gene:

TSFM

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.

Evidence on tissue expression from TISSUES for TSFM Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Bone marrow(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSFM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • liver
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with TSFM: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TSFM Gene

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 34 35
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia TSFM 35
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TSFM 34 35
  • 87.97 (n)
mouse
(Mus musculus)
Mammalia Tsfm 34 16 35
  • 84.72 (n)
rat
(Rattus norvegicus)
Mammalia Tsfm 34
  • 84.62 (n)
oppossum
(Monodelphis domestica)
Mammalia TSFM 35
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSFM 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tsfm 34
  • 63.28 (n)
Str.10593 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16462 34
zebrafish
(Danio rerio)
Actinopterygii tsfm 34 35
  • 56.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009234 34
  • 51.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6412 36 34 35
  • 49.94 (n)
worm
(Caenorhabditis elegans)
Secernentea tsfm-1 34 35
  • 45.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToOne
Species where no ortholog for TSFM was found in the sources mined by GeneCards:
  • 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
rs121909485 Pathogenic, Combined oxidative phosphorylation deficiency 3 (COXPD3) [MIM:610505] 57,796,539(+) TTGTG(C/T)GGTTT intron-variant, reference, missense, utr-variant-3-prime
rs750799705 Combined oxidative phosphorylation deficiency 3 (COXPD3) [MIM:610505] 57,796,324(+) CATCT(C/G)TGAGA intron-variant, reference, missense, utr-variant-3-prime
rs201754030 Pathogenic 57,796,461(+) TGTCC(C/T)AGCCG intron-variant, reference, utr-variant-3-prime, stop-gained
rs587777688 Pathogenic 57,796,549(+) TGAAT(A/G)TGGAG intron-variant, reference, missense, utr-variant-3-prime
rs587777689 Pathogenic 57,782,862(+) CGGTG(A/G)GAAGT intron-variant, downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv470296 CNV loss 18288195
nsv470297 CNV gain 18288195
nsv510601 CNV deletion 20534489
nsv559046 CNV gain 21841781

Variation tolerance for TSFM Gene

Residual Variation Intolerance Score: 82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.62; 45.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TSFM Gene

Human Gene Mutation Database (HGMD)
TSFM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSFM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSFM Gene

Disorders for TSFM Gene

MalaCards: The human disease database

(5) MalaCards diseases for TSFM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TSFM in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:27677415}. 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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSFM
genes like me logo Genes that share disorders with TSFM: view

No data available for Genatlas for TSFM Gene

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 22 64
  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 22 64
  3. Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. (PMID: 27677415) Emperador S. … Montoya J. (Eur. J. Hum. Genet. 2016) 3 4 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  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 22 64

Products for TSFM Gene

Sources for TSFM Gene

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