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    TUFM Tu translation elongation factor, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 7284, updated on 26-Jul-2021

    Summary

    Official Symbol
    TUFMprovided by HGNC
    Official Full Name
    Tu translation elongation factor, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:12420
    See related
    Ensembl:ENSG00000178952 MIM:602389
    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
    P43; EFTU; COXPD4; EF-TuMT
    Summary
    This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 62.5), colon (RPKM 52.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TUFM in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (28842411..28846348, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28853732..28857669, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S15a pseudogene 33 Neighboring gene ataxin 2 like Neighboring gene microRNA 4721 Neighboring gene SH2B adaptor protein 1 Neighboring gene Sharpr-MPRA regulatory region 4004 Neighboring gene ATP2A1 antisense RNA 1 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    GeneReviews: Not available
    Combined oxidative phosphorylation deficiency 4
    MedGen: C1857682 OMIM: 610678 GeneReviews: Not available
    Compare labs
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TUFM PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human Tu translation elongation factor, mitochondrial (TUFM) at amino acid residues 81-82 and 149-150 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    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 GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    enables translation elongation factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translational elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in translational elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in translational elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    elongation factor Tu, mitochondrial
    Names
    EF-Tu
    epididymis secretory sperm binding protein

    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_008964.1 RefSeqGene

      Range
      5061..8998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001365360.2NP_001352289.1  elongation factor Tu, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC133550
      Conserved Domains (1) summary
      cl27768
      Location:50416
      SelB; Selenocysteine-specific translation elongation factor [Translation, ribosomal structure and biogenesis]
    2. NM_003321.5NP_003312.3  elongation factor Tu, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_003312.3

      Status: REVIEWED

      Source sequence(s)
      AC133550, BC010041, CA420396
      Consensus CDS
      CCDS10642.1
      UniProtKB/Swiss-Prot
      P49411
      Related
      ENSP00000322439.3, ENST00000313511.8
      Conserved Domains (1) summary
      cl27768
      Location:50444
      SelB; Selenocysteine-specific translation elongation factor [Translation, ribosomal structure and biogenesis]

    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_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      28842411..28846348 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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