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    TSFM Ts translation elongation factor, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 10102, updated on 16-Apr-2024

    Summary

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    Official Symbol
    TSFMprovided by HGNC
    Official Full Name
    Ts translation elongation factor, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:12367
    See related
    Ensembl:ENSG00000123297 MIM:604723; AllianceGenome:HGNC:12367
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EFTS; EFTSMT
    Summary
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 18.8), kidney (RPKM 13.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q14.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57782787..57802856)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57751155..57771225)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58176570..58196639)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:58164747-58165946 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58166052-58166561 Neighboring gene methyltransferase 1, tRNA methylguanosine Neighboring gene EEF1A lysine methyltransferase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58176331-58177200 Neighboring gene advillin Neighboring gene RNA, U6 small nuclear 1083, pseudogene Neighboring gene CTD small phosphatase 2 Neighboring gene microRNA 26a-2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. Ahola S, et al. Neurology, 2014 Aug 19. PMID 25037205, Free PMC Article
    2. Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. Vedrenne V, et al. J Hepatol, 2012 Jan. PMID 21741925
    3. Assignment of the mitochondrial translation elongation factor Ts gene (TSFM) to human chromosome 12 bands q13-->q14 by in situ hybridization and with somatic cell hybrids. Vernon JL, et al. Cytogenet Cell Genet, 2000. PMID 10965106
    4. Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. Emperador S, et al. Eur J Hum Genet, 2016 Jan. PMID 27677415, Free PMC Article
    5. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Smeitink JA, et al. Am J Hum Genet, 2006 Nov. PMID 17033963, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Short-term regulation of TSFM level does not alter amyloidogenesis and mitochondrial function in type-specific cells.
      Title: Short-term regulation of TSFM level does not alter amyloidogenesis and mitochondrial function in type-specific cells.
    2. Different TSFM mutations can produce the same or very different clinical phenotypes, going from abortions to moderately severe presentations. On the other hand, the same TSFM mutation can also produce same or different phenotypes within the same range of presentations, therefore suggesting the involvement of unknown factors.
      Title: Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
    3. show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, ataxia, or Leigh disease
      Title: Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.
    4. identified a homozygous mutation changing a highly conserved arginine into a tryptophan (R312W) in a kindred with intrauterine growth retardation, neonatal lactic acidosis, liver dysfunction and multiple respiratory chain deficiency in muscle
      Title: Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    6. Molecular modeling showed that the Arg333Trp substitution disrupts local subdomain structure and the dimerization interface.
      Title: Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
    MedGen: C1864840 OMIM: 610505 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables translation elongation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial translational elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA-templated transcription elongation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of mitochondrial translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translational elongation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    elongation factor Ts, mitochondrial
    Names
    mitochondrial elongation factor Ts

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016971.1 RefSeqGene

      Range
      5043..19843
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172695.2 → NP_001166166.1  elongation factor Ts, mitochondrial isoform 3 precursor

      See identical proteins and their annotated locations for NP_001166166.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK304621
      Consensus CDS
      CCDS53811.1
      UniProtKB/TrEMBL
      F8VPA7
      Related
      ENSP00000440987.1, ENST00000540550.6
      Conserved Domains (2) summary
      cd14275
      Location:48 → 84
      UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
      pfam00889
      Location:117 → 142
      EF_TS; Elongation factor TS

    2. NM_001172696.2 → NP_001166167.1  elongation factor Ts, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001166167.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK304621, BC022862
      Consensus CDS
      CCDS53809.1
      UniProtKB/Swiss-Prot
      P43897
      Related
      ENSP00000313877.8, ENST00000323833.12
      Conserved Domains (3) summary
      COG0264
      Location:43 → 334
      Tsf; Translation elongation factor EF-Ts [Translation, ribosomal structure and biogenesis]
      cd14275
      Location:48 → 84
      UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
      pfam00889
      Location:117 → 334
      EF_TS; Elongation factor TS

    3. NM_001172697.2 → NP_001166168.1  elongation factor Ts, mitochondrial isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK308981
      Consensus CDS
      CCDS53810.1
      UniProtKB/TrEMBL
      F8VPA7
      Related
      ENSP00000439342.1, ENST00000543727.5
      Conserved Domains (2) summary
      cd14275
      Location:48 → 84
      UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
      pfam00889
      Location:117 → 142
      EF_TS; Elongation factor TS

    4. NM_005726.6 → NP_005717.3  elongation factor Ts, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_005717.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF110399, AK304621, DB448773
      Consensus CDS
      CCDS8958.2
      UniProtKB/Swiss-Prot
      B4E391, F5H2T7, P43897, Q561V7, Q8TBC2, Q9UQK0
      UniProtKB/TrEMBL
      B4DHY8, E5KS95
      Related
      ENSP00000499171.2, ENST00000652027.2
      Conserved Domains (3) summary
      COG0264
      Location:43 → 313
      Tsf; Translation elongation factor EF-Ts [Translation, ribosomal structure and biogenesis]
      cd14275
      Location:48 → 84
      UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
      pfam00889
      Location:117 → 313
      EF_TS; Elongation factor TS

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57782787..57802856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57751155..57771225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43897.2 GenPept UniProtKB/Swiss-Prot:P43897

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