LOCUS       NM_003321               2011 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens Tu translation elongation factor, mitochondrial
            (TUFM), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_003321
VERSION     NM_003321.5
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 2011)
  AUTHORS   Zhang,J., Zhou,X.Y., Wang,A., Lai,Y.H., Zhang,X.F., Liu,X.T.,
            Wang,Z., Liu,Y.D., Tang,S.Y. and Chen,S.L.
  TITLE     Novel Tu translation elongation factor, mitochondrial (TUFM)
            homozygous variant in a consanguineous family with premature
            ovarian insufficiency
  JOURNAL   Clin Genet 104 (5), 516-527 (2023)
   PUBMED   37461298
  REMARK    GeneRIF: Novel Tu translation elongation factor, mitochondrial
            (TUFM) homozygous variant in a consanguineous family with premature
            ovarian insufficiency.
REFERENCE   2  (bases 1 to 2011)
  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 2011)
  AUTHORS   Zhong,B.R., Zhou,G.F., Song,L., Wen,Q.X., Deng,X.J., Ma,Y.L.,
            Hu,L.T. and Chen,G.J.
  TITLE     TUFM is involved in Alzheimer's disease-like pathologies that are
            associated with ROS
  JOURNAL   FASEB J 35 (5), e21445 (2021)
   PUBMED   33774866
  REMARK    GeneRIF: TUFM is involved in Alzheimer's disease-like pathologies
            that are associated with ROS.
REFERENCE   4  (bases 1 to 2011)
  AUTHORS   Girodat,D., Blanchard,S.C., Wieden,H.J. and Sanbonmatsu,K.Y.
  TITLE     Elongation Factor Tu Switch I Element is a Gate for Aminoacyl-tRNA
            Selection
  JOURNAL   J Mol Biol 432 (9), 3064-3077 (2020)
   PUBMED   32061931
  REMARK    GeneRIF: Elongation Factor Tu Switch I Element is a Gate for
            Aminoacyl-tRNA Selection.
REFERENCE   5  (bases 1 to 2011)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2011)
  AUTHORS   Chang,S.Y., Park,S.G., Kim,S. and Kang,C.Y.
  TITLE     Interaction of the C-terminal domain of p43 and the alpha subunit
            of ATP synthase. Its functional implication in endothelial cell
            proliferation
  JOURNAL   J Biol Chem 277 (10), 8388-8394 (2002)
   PUBMED   11741979
REFERENCE   7  (bases 1 to 2011)
  AUTHORS   Shah,Z.H., Migliosi,V., Miller,S.C., Wang,A., Friedman,T.B. and
            Jacobs,H.T.
  TITLE     Chromosomal locations of three human nuclear genes (RPSM12, TUFM,
            and AFG3L1) specifying putative components of the mitochondrial
            gene expression apparatus
  JOURNAL   Genomics 48 (3), 384-388 (1998)
   PUBMED   9545647
REFERENCE   8  (bases 1 to 2011)
  AUTHORS   Ling,M., Merante,F., Chen,H.S., Duff,C., Duncan,A.M. and
            Robinson,B.H.
  TITLE     The human mitochondrial elongation factor tu (EF-Tu) gene: cDNA
            sequence, genomic localization, genomic structure, and
            identification of a pseudogene
  JOURNAL   Gene 197 (1-2), 325-336 (1997)
   PUBMED   9332382
REFERENCE   9  (bases 1 to 2011)
  AUTHORS   Woriax,V.L., Burkhart,W. and Spremulli,L.L.
  TITLE     Cloning, sequence analysis and expression of mammalian
            mitochondrial protein synthesis elongation factor Tu
  JOURNAL   Biochim Biophys Acta 1264 (3), 347-356 (1995)
   PUBMED   8547323
REFERENCE   10 (bases 1 to 2011)
  AUTHORS   Wells,J., Henkler,F., Leversha,M. and Koshy,R.
  TITLE     A mitochondrial elongation factor-like protein is over-expressed in
            tumours and differentially expressed in normal tissues
  JOURNAL   FEBS Lett 358 (2), 119-125 (1995)
   PUBMED   7828719
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC133550.2, BC010041.2 and
            CA420396.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_003321.4.
            
            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].
            
            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 :: SRR1660805.291522.1,
                                           SRR1803613.251890.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145313
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000313511.8/
                                                  ENSP00000322439.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AC133550.2         41494-41519
            27-1631             BC010041.2         1-1605
            1632-2011           CA420396.1         19-398              c
FEATURES             Location/Qualifiers
     source          1..2011
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2011
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /note="Tu translation elongation factor, mitochondrial"
                     /db_xref="GeneID:7284"
                     /db_xref="HGNC:HGNC:12420"
                     /db_xref="MIM:602389"
     exon            1..131
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..1447
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; elongation factor Tu, mitochondrial; EF-Tu;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="elongation factor Tu, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_003312.3"
                     /db_xref="CCDS:CCDS10642.1"
                     /db_xref="GeneID:7284"
                     /db_xref="HGNC:HGNC:12420"
                     /db_xref="MIM:602389"
                     /translation="MTTMAAATLLRATPHFSGLAAGRTFLLQGLLRLLKAPALPLLCR
                     GLAVEAKKTYVRDKPHVNVGTIGHVDHGKTTLTAAITKILAEGGGAKFKKYEEIDNAP
                     EERARGITINAAHVEYSTAARHYAHTDCPGHADYVKNMITGTAPLDGCILVVAANDGP
                     MPQTREHLLLARQIGVEHVVVYVNKADAVQDSEMVELVELEIRELLTEFGYKGEETPV
                     IVGSALCALEGRDPELGLKSVQKLLDAVDTYIPVPARDLEKPFLLPVEAVYSVPGRGT
                     VVTGTLERGILKKGDECELLGHSKNIRTVVTGIEMFHKSLERAEAGDNLGALVRGLKR
                     EDLRRGLVMVKPGSIKPHQKVEAQVYILSKEEGGRHKPFVSHFMPVMFSLTWDMACRI
                     ILPPEKELAMPGEDLKFNLILRQPMILEKGQRFTLRDGNRTIGTGLVTNTLAMTEEEK
                     NIKWG"
     exon            132..326
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /inference="alignment:Splign:2.1.0"
     exon            327..493
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /inference="alignment:Splign:2.1.0"
     exon            494..598
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /inference="alignment:Splign:2.1.0"
     exon            599..763
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /inference="alignment:Splign:2.1.0"
     exon            764..896
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1001
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1153
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /inference="alignment:Splign:2.1.0"
     exon            1154..1273
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /inference="alignment:Splign:2.1.0"
     exon            1274..2011
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /note="hexamer: AGTAAA"
     polyA_site      1635
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /note="major polyA site"
     regulatory      1991..1996
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
                     /note="hexamer: AATAAA"
     polyA_site      2011
                     /gene="TUFM"
                     /gene_synonym="COXPD4; EF-TuMT; EFTU; P43"
ORIGIN      
        1 gccttccagc cgcaggcgcc cttcttcttc tgtgcgctcg ggctcctggt cccggctccc
       61 cggttaccgg ggcgcgagta tgaccacaat ggcggccgcc accctgctgc gcgcgacgcc
      121 ccacttcagc ggtctcgccg ccggccggac cttcctgctg cagggtctgt tgcggctgct
      181 gaaagccccg gcattgcctc tcttgtgccg cggcctggcc gtggaggcca agaagactta
      241 cgtgcgcgac aagccacatg tgaatgtggg taccatcggc catgtggacc acgggaagac
      301 cacgctgact gcagccatca cgaagattct agctgaggga ggtggggcta agttcaagaa
      361 gtacgaggag attgacaatg ccccggagga gcgagctcgg ggtatcacca tcaatgcggc
      421 tcatgtggag tatagcactg ccgcccgcca ctacgcccac acagactgcc cgggtcatgc
      481 agattatgtt aagaatatga tcacaggcac tgcacccctc gacggctgca tcctggtggt
      541 agcagccaat gacggcccca tgccccagac ccgagagcac ttattactgg ccagacagat
      601 tggggtggag catgtggtgg tgtatgtgaa caaggctgac gctgtccagg actctgagat
      661 ggtggaactg gtggaactgg agatccggga gctgctcacc gagtttggct ataaagggga
      721 ggagacccca gtcatcgtag gctctgctct ctgtgccctt gagggtcggg accctgagtt
      781 aggcctgaag tctgtgcaga agctactgga tgctgtggac acttacatcc cagtgcccgc
      841 ccgggacctg gagaagcctt tcctgctgcc tgtggaggcg gtgtactccg tccctggccg
      901 tggcaccgtg gtgacaggta cactagagcg tggcatttta aagaagggag acgagtgtga
      961 gctcctagga catagcaaga acatccgcac tgtggtgaca ggcattgaga tgttccacaa
     1021 gagcctggag agggccgagg ccggagataa cctcggggcc ctggtccgag gcttgaagcg
     1081 ggaggacttg cggcggggcc tggtcatggt caagccaggt tccatcaagc cccaccagaa
     1141 ggtggaggcc caggtttaca tcctcagcaa ggaggaaggt ggccgccaca agccctttgt
     1201 gtcccacttc atgcctgtca tgttctccct gacttgggac atggcctgtc ggattatcct
     1261 gcccccagag aaggagcttg ccatgcccgg ggaggacctg aagttcaacc taatcttgcg
     1321 gcagccaatg atcttagaga aaggccagcg tttcaccctg cgagatggca accggactat
     1381 tggcaccggt ctagtcacca acacgctggc catgactgag gaggagaaga atatcaaatg
     1441 gggttgagtg tgcagatctc tgctcagctt cccttgcgtt taaggcctgc cctagccagg
     1501 gctccctcct gcttccagta ccctctcatg gcataggctg caacccagca gagggcagct
     1561 agatggacat ttcccctgct cggaagggtt ggcctgcctg gctggggagg tcagtaaact
     1621 ttgaatagta agccagcctg tgtcctgtgt cctttgtgca aattggagag gataggggag
     1681 gacaaaaagg gtgttgaacc ccagacagat ggggagcttg tgagatccca gagcagtttt
     1741 aacggataaa tcaagtccag tgagcttagt gattgcctag acacagtagg atgccgttat
     1801 tcagcctcct gggagatagt gggaaagaat gttctatcgc tctggagcca gcatggcttc
     1861 agctcaggtg ccaaacccat cttgtttcct cggaatacta agtgaatgtc tagcatccat
     1921 tcacattctg tgggaacagg gactggacag gcatacctca gatgctgtag gtttgcttcc
     1981 agactaccac aataaagcag gtcacaaatt t
//
