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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
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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
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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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