LOCUS       NM_024683               1306 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens transcription elongation factor, mitochondrial (TEFM),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_024683
VERSION     NM_024683.4
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 1306)
  AUTHORS   Van Haute,L., O'Connor,E., Diaz-Maldonado,H., Munro,B.,
            Polavarapu,K., Hock,D.H., Arunachal,G., Athanasiou-Fragkouli,A.,
            Bardhan,M., Barth,M., Bonneau,D., Brunetti-Pierri,N., Cappuccio,G.,
            Caruana,N.J., Dominik,N., Goel,H., Helman,G., Houlden,H.,
            Lenaers,G., Mention,K., Murphy,D., Nandeesh,B., Olimpio,C.,
            Powell,C.A., Preethish-Kumar,V., Procaccio,V., Rius,R.,
            Rebelo-Guiomar,P., Simons,C., Vengalil,S., Zaki,M.S., Ziegler,A.,
            Thorburn,D.R., Stroud,D.A., Maroofian,R., Christodoulou,J.,
            Gustafsson,C., Nalini,A., Lochmuller,H., Minczuk,M. and Horvath,R.
  TITLE     TEFM variants impair mitochondrial transcription causing
            childhood-onset neurological disease
  JOURNAL   Nat Commun 14 (1), 1009 (2023)
   PUBMED   36823193
  REMARK    GeneRIF: TEFM variants impair mitochondrial transcription causing
            childhood-onset neurological disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1306)
  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 1306)
  AUTHORS   Wan,L., Wang,Y., Zhang,Z., Wang,J., Niu,M., Wu,Y., Yang,Y.,
            Dang,Y., Hui,S., Ni,M., Wan,B. and Bao,D.
  TITLE     Elevated TEFM expression promotes growth and metastasis through
            activation of ROS/ERK signaling in hepatocellular carcinoma
  JOURNAL   Cell Death Dis 12 (4), 325 (2021)
   PUBMED   33771980
  REMARK    GeneRIF: Elevated TEFM expression promotes growth and metastasis
            through activation of ROS/ERK signaling in hepatocellular
            carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1306)
  AUTHORS   Hillen,H.S., Parshin,A.V., Agaronyan,K., Morozov,Y.I., Graber,J.J.,
            Chernev,A., Schwinghammer,K., Urlaub,H., Anikin,M., Cramer,P. and
            Temiakov,D.
  TITLE     Mechanism of Transcription Anti-termination in Human Mitochondria
  JOURNAL   Cell 171 (5), 1082-1093 (2017)
   PUBMED   29033127
  REMARK    GeneRIF: Data provide insights into target specificity of TEFM and
            mechanisms by which it regulates the switch between transcription
            and replication of mitochondrial DNA.
REFERENCE   5  (bases 1 to 1306)
  AUTHORS   Posse,V., Shahzad,S., Falkenberg,M., Hallberg,B.M. and
            Gustafsson,C.M.
  TITLE     TEFM is a potent stimulator of mitochondrial transcription
            elongation in vitro
  JOURNAL   Nucleic Acids Res 43 (5), 2615-2624 (2015)
   PUBMED   25690892
  REMARK    GeneRIF: Data indicate transcription elongation factor (TEFM) as an
            essential component of the mitochondrial transcription machinery.
REFERENCE   6  (bases 1 to 1306)
  AUTHORS   Minczuk,M., He,J., Duch,A.M., Ettema,T.J., Chlebowski,A.,
            Dzionek,K., Nijtmans,L.G., Huynen,M.A. and Holt,I.J.
  TITLE     TEFM (c17orf42) is necessary for transcription of human mtDNA
  JOURNAL   Nucleic Acids Res 39 (10), 4284-4299 (2011)
   PUBMED   21278163
  REMARK    GeneRIF: The TEFM protein is proposed to be a critical component of
            the transcription apparatus of human mitochondria.
REFERENCE   7  (bases 1 to 1306)
  AUTHORS   Visser,R., Koelma,N., Vijfhuizen,L., van der Wielen,M.J.,
            Kant,S.G., Breuning,M.H., Wit,J.M. and Losekoot,M.
  TITLE     RNF135 mutations are not present in patients with Sotos
            syndrome-like features
  JOURNAL   Am J Med Genet A 149A (4), 806-808 (2009)
   PUBMED   19291764
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1306)
  AUTHORS   Douglas,J., Cilliers,D., Coleman,K., Tatton-Brown,K., Barker,K.,
            Bernhard,B., Burn,J., Huson,S., Josifova,D., Lacombe,D., Malik,M.,
            Mansour,S., Reid,E., Cormier-Daire,V., Cole,T. and Rahman,N.
  CONSRTM   Childhood Overgrowth Collaboration
  TITLE     Mutations in RNF135, a gene within the NF1 microdeletion region,
            cause phenotypic abnormalities including overgrowth
  JOURNAL   Nat Genet 39 (8), 963-965 (2007)
   PUBMED   17632510
REFERENCE   9  (bases 1 to 1306)
  AUTHORS   Jenne,D.E., Tinschert,S., Reimann,H., Lasinger,W., Thiel,G.,
            Hameister,H. and Kehrer-Sawatzki,H.
  TITLE     Molecular characterization and gene content of breakpoint
            boundaries in patients with neurofibromatosis type 1 with 17q11.2
            microdeletions
  JOURNAL   Am J Hum Genet 69 (3), 516-527 (2001)
   PUBMED   11468690
REFERENCE   10 (bases 1 to 1306)
  AUTHORS   Jenne,D.E., Tinschert,S., Stegmann,E., Reimann,H., Nurnberg,P.,
            Horn,D., Naumann,I., Buske,A. and Thiel,G.
  TITLE     A common set of at least 11 functional genes is lost in the
            majority of NF1 patients with gross deletions
  JOURNAL   Genomics 66 (1), 93-97 (2000)
   PUBMED   10843809
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA647699.1, AJ314645.1 and BQ003763.1.
            
            On Nov 23, 2018 this sequence version replaced NM_024683.3.
            
            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 :: SRR3476690.1058795.1,
                                           SRR5189667.145602.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000581216.6/
                                                  ENSP00000462963.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DA647699.1         31-33
            4-638               AJ314645.1         1-635
            639-1306            BQ003763.1         22-689              c
FEATURES             Location/Qualifiers
     source          1..1306
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..1306
                     /gene="TEFM"
                     /gene_synonym="C17orf42; COXPD58"
                     /note="transcription elongation factor, mitochondrial"
                     /db_xref="GeneID:79736"
                     /db_xref="HGNC:HGNC:26223"
                     /db_xref="MIM:616422"
     exon            1..71
                     /gene="TEFM"
                     /gene_synonym="C17orf42; COXPD58"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1123
                     /gene="TEFM"
                     /gene_synonym="C17orf42; COXPD58"
                     /note="transcription elongation factor of mitochondria"
                     /codon_start=1
                     /product="transcription elongation factor, mitochondrial"
                     /protein_id="NP_078959.3"
                     /db_xref="CCDS:CCDS42291.1"
                     /db_xref="GeneID:79736"
                     /db_xref="HGNC:HGNC:26223"
                     /db_xref="MIM:616422"
                     /translation="MSGSVLFTAGERWRCFLTPSRSSLYWALHNFCCRKKSTTPKKIT
                     PNVTFCDENAKEPENALDKLFSSEQQASILHVLNTASTKELEAFRLLRGRRSINIVEH
                     RENFGPFQNLESLMNVPLFKYKSTVQVCNSILCPKTGREKRKSPENRFLRKLLKPDIE
                     RERLKAVNSIISIVFGTRRIAWAHLDRKLTVLDWQQSDRWSLMRGIYSSSVYLEEISS
                     IISKMPKADFYVLEKTGLSIQNSSLFPILLHFHIMEAMLYALLNKTFAQDGQHQVLSM
                     NRNAVGKHFELMIGDSRTSGKELVKQFLFDSILKADPRVFFPSDKIVHYRQMFLSTEL
                     QRVEELYDSLLQAIAFYELAVFDSQP"
     exon            72..535
                     /gene="TEFM"
                     /gene_synonym="C17orf42; COXPD58"
                     /inference="alignment:Splign:2.1.0"
     exon            536..685
                     /gene="TEFM"
                     /gene_synonym="C17orf42; COXPD58"
                     /inference="alignment:Splign:2.1.0"
     exon            686..1306
                     /gene="TEFM"
                     /gene_synonym="C17orf42; COXPD58"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1289..1294
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TEFM"
                     /gene_synonym="C17orf42; COXPD58"
                     /note="hexamer: AATAAA"
     polyA_site      1306
                     /gene="TEFM"
                     /gene_synonym="C17orf42; COXPD58"
                     /note="major polyA site"
ORIGIN      
        1 gtcaatggag gaagactgga cctactgatt caacttggag atgagcgggt ctgtcctctt
       61 cacggcggga gagaggtgga gatgctttct gaccccgtcg aggtcatccc tgtactgggc
      121 cttacataat ttctgctgtc ggaaaaaatc cactacacct aagaaaatta ctcccaatgt
      181 tactttttgt gatgaaaatg caaaggagcc cgaaaatgca cttgacaagc tcttctcttc
      241 agaacagcag gcttccatct tgcatgtgtt gaatacagca tctactaaag aacttgaagc
      301 tttccgattg cttcgtggaa gaaggtccat caatatcgta gagcacagag aaaactttgg
      361 gccatttcag aatttagaga gtttaatgaa tgtgcccttg tttaagtata aaagtacagt
      421 tcaagtttgt aactccatac tttgtccaaa gactggacgg gaaaaaagaa agtcaccgga
      481 aaaccggttc ctgagaaagc tcctcaaacc agacatagaa agagaaagac ttaaggcagt
      541 taatagtatc atatctatcg tttttggtac tcgaagaatt gcctgggctc accttgatcg
      601 taagttgaca gtgctggact ggcagcaaag tgaccgttgg agtttaatga gaggaatata
      661 ctcatcatca gtctatttag aagagatttc ctcgatcatt tcaaagatgc ctaaagcaga
      721 tttctatgtt ctggaaaaaa caggactttc cattcagaac tcatctctgt ttccaatact
      781 gttacatttt catatcatgg aagccatgct gtatgcctta ttaaataaaa cttttgccca
      841 ggatgggcag catcaggtgc tgagcatgaa tcgaaatgca gtggggaagc attttgaact
      901 gatgattggt gactcccgga ctagtggaaa agagctagtg aagcagtttc tcttcgattc
      961 tatactgaag gcggatcctc gggtgttctt cccatcagat aaaatagttc actacagaca
     1021 gatgttttta tctactgaac tacaaagagt agaagagctt tatgattcat tattacaagc
     1081 tattgccttc tatgaattag cagtgtttga ctctcagcct tagaattctg aggttaacgt
     1141 gctaaagtat aattattagc tctaacgtaa caccaactgt tgtgaacatc catgttattg
     1201 gaaaagaaca cattttcagt gtattttaga tgtttaaatt ctgacttttg gctattaaat
     1261 ggtttacaca ataagccaag accaaatcaa taaacatttt atgaga
//
