LOCUS       NM_005726               1997 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens Ts translation elongation factor, mitochondrial
            (TSFM), transcript variant 2, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_005726
VERSION     NM_005726.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1997)
  AUTHORS   Li,X.Y., Zhou,G.F., Xie,X.Y., Pu,Y.L., -Chen,X., Li,C.L., Yang,J.,
            Wang,L. and Chen,G.J.
  TITLE     Short-term regulation of TSFM level does not alter amyloidogenesis
            and mitochondrial function in type-specific cells
  JOURNAL   Mol Biol Rep 51 (1), 484 (2024)
   PUBMED   38578353
  REMARK    GeneRIF: Short-term regulation of TSFM level does not alter
            amyloidogenesis and mitochondrial function in type-specific cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1997)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 1997)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1997)
  AUTHORS   Emperador,S., Bayona-Bafaluy,M.P., Fernandez-Marmiesse,A.,
            Pineda,M., Felgueroso,B., Lopez-Gallardo,E., Artuch,R., Roca,I.,
            Ruiz-Pesini,E., Couce,M.L. and Montoya,J.
  TITLE     Molecular-genetic characterization and rescue of a TSFM mutation
            causing childhood-onset ataxia and nonobstructive cardiomyopathy
  JOURNAL   Eur J Hum Genet 25 (1), 153-156 (2016)
   PUBMED   27677415
  REMARK    GeneRIF: 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.
REFERENCE   5  (bases 1 to 1997)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (bases 1 to 1997)
  AUTHORS   Smeitink,J.A., Elpeleg,O., Antonicka,H., Diepstra,H., Saada,A.,
            Smits,P., Sasarman,F., Vriend,G., Jacob-Hirsch,J., Shaag,A.,
            Rechavi,G., Welling,B., Horst,J., Rodenburg,R.J., van den Heuvel,B.
            and Shoubridge,E.A.
  TITLE     Distinct clinical phenotypes associated with a mutation in the
            mitochondrial translation elongation factor EFTs
  JOURNAL   Am J Hum Genet 79 (5), 869-877 (2006)
   PUBMED   17033963
  REMARK    GeneRIF: Molecular modeling showed that the Arg333Trp substitution
            disrupts local subdomain structure and the dimerization interface.
REFERENCE   7  (bases 1 to 1997)
  AUTHORS   Antonicka,H., Sasarman,F., Kennaway,N.G. and Shoubridge,E.A.
  TITLE     The molecular basis for tissue specificity of the oxidative
            phosphorylation deficiencies in patients with mutations in the
            mitochondrial translation factor EFG1
  JOURNAL   Hum Mol Genet 15 (11), 1835-1846 (2006)
   PUBMED   16632485
REFERENCE   8  (bases 1 to 1997)
  AUTHORS   Vernon,J.L., Burr,P.C., Wiley,J.E. and Farwell,M.A.
  TITLE     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
  JOURNAL   Cytogenet Cell Genet 89 (3-4), 145-146 (2000)
   PUBMED   10965106
REFERENCE   9  (bases 1 to 1997)
  AUTHORS   Xin,H., Woriax,V., Burkhart,W. and Spremulli,L.L.
  TITLE     Cloning and expression of mitochondrial translational elongation
            factor Ts from bovine and human liver
  JOURNAL   J Biol Chem 270 (29), 17243-17249 (1995)
   PUBMED   7615523
REFERENCE   10 (bases 1 to 1997)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB448773.1, AF110399.1 and
            AK304621.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_005726.5.
            
            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].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.1535.1,
                                           SRR1803611.186929.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000652027.2/
                                                  ENSP00000499171.2
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DB448773.1         43-54
            13-994              AF110399.1         1-982
            995-1997            AK304621.1         933-1935
FEATURES             Location/Qualifiers
     source          1..1997
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q14.1"
     gene            1..1997
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /note="Ts translation elongation factor, mitochondrial"
                     /db_xref="GeneID:10102"
                     /db_xref="HGNC:HGNC:12367"
                     /db_xref="MIM:604723"
     exon            1..72
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..993
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; mitochondrial elongation factor Ts"
                     /codon_start=1
                     /product="elongation factor Ts, mitochondrial isoform 2
                     precursor"
                     /protein_id="NP_005717.3"
                     /db_xref="CCDS:CCDS8958.2"
                     /db_xref="GeneID:10102"
                     /db_xref="HGNC:HGNC:12367"
                     /db_xref="MIM:604723"
                     /translation="MSLLRSLRVFLVARTGSYPAGSLLRQSPQPRHTFYAGPRLSASA
                     SSKELLMKLRRKTGYSFVNCKKALETCGGDLKQAEIWLHKEAQKEGWSKAAKLQGRKT
                     KEGLIGLLQEGNTTVLVEVNCETDFVSRNLKFQLLVQQVALGTMMHCQTLKDQPSAYS
                     KGFLNSSELSGLPAGPDREGSLKDQLALAIGKLGENMILKRAAWVKVPSGFYVGSYVH
                     GAMQSPSLHKLVLGKYGALVICETSEQKTNLEDVGRRLGQHVVGMAPLSVGSLDDEPG
                     GEAETKMLSQPYLLDPSITLGQYVQPQGVSVVDFVRFECGEGEEAAETE"
     exon            73..246
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /inference="alignment:Splign:2.1.0"
     exon            247..375
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /inference="alignment:Splign:2.1.0"
     exon            376..498
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /inference="alignment:Splign:2.1.0"
     exon            499..586
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /inference="alignment:Splign:2.1.0"
     exon            587..1997
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1124..1129
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /note="hexamer: AATAAT"
     polyA_site      1148
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /note="major polyA site"
     regulatory      1976..1981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
                     /note="hexamer: ATTAAA"
     polyA_site      1997
                     /gene="TSFM"
                     /gene_synonym="EFTS; EFTSMT"
ORIGIN      
        1 atcgcggcta gagagatgtc gctgctgcgg tcgctgcgcg tgtttctggt cgcgcggacc
       61 gggagctacc cggctgggtc tcttctgcgt cagtcgcccc agccaaggca cacattttat
      121 gctgggcccc gtctgtctgc ctcggcctcc agcaaggagc tcctcatgaa gctgcggcgg
      181 aaaacaggct actcctttgt aaattgcaag aaagctctgg agacttgtgg cggggacctc
      241 aaacaggcag agatctggct ccacaaggag gcccagaagg agggctggag caaagctgcc
      301 aagctccaag ggaggaagac caaagaaggc ctgattgggc tgttgcagga aggaaacaca
      361 actgtattag tagaggtaaa ctgtgagaca gattttgttt ctagaaattt aaaatttcaa
      421 ctgttggtcc agcaagtagc ccttggaacc atgatgcatt gtcagaccct aaaggatcaa
      481 ccctctgcat acagtaaagg tttcttgaat tcctctgagc tttctggact tccagctggg
      541 cctgacagag aaggctcact caaggatcag ttggctttag caattggaaa actgggagaa
      601 aacatgattc ttaaacgagc tgcatgggtg aaggtgccat ctgggttcta cgttggctct
      661 tatgtccacg gagcaatgca gagtccctca cttcacaagc tggtgctggg gaagtatggg
      721 gccctggtca tctgtgagac gtctgaacag aaaacaaacc ttgaagacgt tggccgccgc
      781 cttgggcagc atgtggtggg catggccccc ctctctgttg gctccctgga cgatgagcct
      841 gggggagagg cagagactaa gatgctgtcc cagccgtatt tgctggatcc ctccattacc
      901 ttggggcagt atgtgcagcc tcagggggtg tcggtagtag actttgtgcg gtttgaatgt
      961 ggagaaggtg aagaggcagc agaaactgaa taggttccag agacttttgg cccaggagga
     1021 atatttactt ttagctctgg acatcattac aaaaaggaat atttcccaaa cctcttcaga
     1081 ccgagaatgc atgggtaaaa ttattaaata gttgtataat aaaaataatt ttttccttgt
     1141 ttgcgtaata ctggatttag cttttctgtg cctttcaaaa acaacaggtg ggccttattg
     1201 acgtgatagt gtcgtggaga acaggcatca acaatactgc tgctcccttc aacatagatt
     1261 tattatggta tttctgaaat ttctaactta tatgttctgt cttacacctt ttatgacata
     1321 gaactctttt gttctgtttt tgctttgcga cactgtgaac cgtgcttctg cctcggaacc
     1381 tccctagtta tattacttgt gccacatgga tttctttagg attattgatt caaacctaga
     1441 gttgtctgga aaatgtgggt tctcttcttt gtgattgtct gtagtatgct ttgaaggtgc
     1501 tctgcagtgg tagacacact ggttctggcc tcatttaatg aaattaataa cacatgcccc
     1561 tatttctctt ttggatgatg tgtgggtggg tgggtactga ggtttcctgg ccagctgtaa
     1621 ggcagatttt gacattcttg tgccagaaac agaaattaga gtagtccagt tacccagaga
     1681 gctcacttaa cattgcctct ttacttcccc agtactgaaa catttcttca agtataacat
     1741 aaaattaccg taacaagcag acccagaata ctgaaaataa ctccatttgt tcattatagg
     1801 tatctttatt tgaaaagtga aaaatgcttt gacacattac agatctgggt atttggattt
     1861 tgcctatgga gtgcatatat gatttcaatg atttacaggc taaatagatt ttagaaataa
     1921 tcatcttaaa attgaaaaca aaggtaggtc ctggtataat attaaacata aagttattaa
     1981 acattttaag cattgtt
//
