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    TUFM Tu translation elongation factor, mitochondrial [ Homo sapiens ]

    Gene ID: 7284, updated on 11-May-2012
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    Summary

    Official Symbol
    TUFMprovided by HGNC
    Official Full Name
    Tu translation elongation factor, mitochondrialprovided by HGNC
    Primary source
    HGNC:12420
    See related
    Ensembl:ENSG00000178952; HPRD:03861; MIM:602389; Vega:OTTHUMG00000097039
    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]
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    Genomic context

    Location :
    16p11.2
    Sequence :
    Chromosome: 16; NC_000016.9 (28853732..28857729, complement)
    See TUFM in Epigenomics, MapViewer

    Chromosome 16 - NC_000016.9Genomic 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 uncharacterized LOC100289092 Neighboring gene ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. Nuclear import of histone deacetylase 5 by requisite nuclear localization signal phosphorylation. Greco TM, et al. Mol Cell Proteomics, 2011 Feb. PMID 21081666.

    See all (40) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    2. Results suggest that the R336Q mutant mt-EFTu variant fails to bind to aminoacylated mitochondrial tRNAs, thus explaining the observed impairment of mitochondrial translation.
      Title: The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex.
    3. Myoblasts isolated from the MELAS patients show A3243G mutation in tRNALeu(UUR) produces a severe respiratory chain deficiency and this phenotype can be partially suppressed by overexpression of EFTu and EFG2.
      Title: The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.
    4. Genetic investigation of patients with defective mitochondrial translation led to the discovery of novel mutations in the mitochondrial elongation factor G1 (EFG1) in one affected baby and in the mitochondrial elongation factor Tu (EFTu) in another one
      Title: Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
    Submit: New GeneRIF Correction
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    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

    Combined oxidative phosphorylation deficiency 4

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P49411 P38606 ATP6V1A    HPRD  PubMed  
    P49411 P35579 MYH9    HPRD  PubMed  
    BioGRID:113135 BioGRID:114342 BANF1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113135 BioGRID:128178 EIF2C4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113135 BioGRID:115331 HDAC5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113135 BioGRID:109622 ICT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113135 BioGRID:115783 NOP56    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113135 BioGRID:111513 PPP2R2B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113135 BioGRID:112344 SGK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113135 BioGRID:132223 SUMO4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113135 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:113135 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the TUFM gene: The TUFM gene is conserved in chimpanzee, , dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, A.thaliana, rice, and P.falciparum.
    • Map Viewer (Mouse, Rat)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    translation elongation factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    translational elongation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    elongation factor Tu, mitochondrial
    Names
    elongation factor Tu, mitochondrial
    EF-Tu
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    NCBI Reference Sequences (RefSeq)

    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
      5001..8998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003321.4 → NP_003312.3  elongation factor Tu, mitochondrial precursor

      Status: REVIEWED

      Source sequence(s)
      AC133550, BC010041, CA420396
      Consensus CDS
      CCDS10642.1
      UniProtKB/Swiss-Prot
      P49411
      Related
      ENSP00000322439, OTTHUMP00000122539, ENST00000313511, OTTHUMT00000214140
      Conserved Domains (4) summary
      cd03706
      Location:350 – 442
      Blast Score: 439
      mtEFTU_III; Domain III of mitochondrial EF-TU (mtEF-TU). mtEF-TU is highly conserved and is 55-60% identical to bacterial EF-TU. The overall structure is similar to that observed in the Escherichia coli and Thermus aquaticus EF-TU. However, compared with that ...
      cd03697
      Location:261 – 347
      Blast Score: 367
      EFTU_II; EFTU_II: Elongation factor Tu domain II. Elongation factors Tu (EF-Tu) are three-domain GTPases with an essential function in the elongation phase of mRNA translation. The GTPase center of EF-Tu is in the N-terminal domain (domain I), also known as the ...
      PRK00049
      Location:50 – 444
      Blast Score: 1467
      PRK00049; elongation factor Tu; Reviewed
      cd01884
      Location:59 – 253
      Blast Score: 855
      EF_Tu; Elongation Factor Tu (EF-Tu) GTP-binding proteins

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000016.9 Reference GRCh37.p5 Primary Assembly

      Range
      28853732..28857729, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000148.1 Alternate HuRef

      Range
      26721293..26725288, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC133550.2 (41433..45051) None
    genomic CH471267.1 EAW51997.1
      EAW51998.1
    mRNA BC001633.1 AAH01633.2
    mRNA BC010041.2 AAH10041.2
    mRNA CA420396.1 None
    mRNA L38995.1 AAB00499.1
    mRNA S75463.1 AAC60647.1
    mRNA X84694.1 CAA59169.1
    other-genetic HQ448224.1 ADQ32704.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49411.2 GenPept UniProtKB/Swiss-Prot:P49411
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
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