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

    Gene ID: 10102, updated on 4-Jul-2021

    Summary

    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See TSFM in Genome Data Viewer
    Location:
    12q14.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (57782787..57802856)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58176570..58196639)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene methyltransferase 1, tRNA methylguanosine Neighboring gene EEF1A lysine methyltransferase 3 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translational elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5001..25112
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172695.2NP_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/Swiss-Prot
      P43897
      Related
      ENSP00000440987.1, ENST00000540550.6
      Conserved Domains (2) summary
      cd14275
      Location:4884
      UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
      pfam00889
      Location:117142
      EF_TS; Elongation factor TS
    2. NM_001172696.2NP_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:43334
      Tsf; Translation elongation factor EF-Ts [Translation, ribosomal structure and biogenesis]
      cd14275
      Location:4884
      UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
      pfam00889
      Location:117334
      EF_TS; Elongation factor TS
    3. NM_001172697.2NP_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/Swiss-Prot
      P43897
      Related
      ENSP00000439342.1, ENST00000543727.5
      Conserved Domains (2) summary
      cd14275
      Location:4884
      UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
      pfam00889
      Location:117142
      EF_TS; Elongation factor TS
    4. NM_005726.6NP_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
      P43897
      UniProtKB/TrEMBL
      E5KS95
      Related
      ENSP00000499171.2, ENST00000652027.2
      Conserved Domains (3) summary
      COG0264
      Location:43313
      Tsf; Translation elongation factor EF-Ts [Translation, ribosomal structure and biogenesis]
      cd14275
      Location:4884
      UBA_EF-Ts; UBA domain found in elongation factor Ts (EF-Ts) from bacteria, chloroplasts and mitochondria of eukaryotes
      pfam00889
      Location:117313
      EF_TS; Elongation factor TS

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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