LOCUS       NM_139242               2746 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens mitochondrial methionyl-tRNA formyltransferase
            (MTFMT), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_139242
VERSION     NM_139242.4
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 2746)
  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   2  (bases 1 to 2746)
  AUTHORS   Seo,J.H., Hwang,C.S. and Yoo,J.Y.
  TITLE     MTFMT deficiency correlates with reduced mitochondrial integrity
            and enhanced host susceptibility to intracellular infection
  JOURNAL   Sci Rep 10 (1), 11183 (2020)
   PUBMED   32636430
  REMARK    GeneRIF: MTFMT deficiency correlates with reduced mitochondrial
            integrity and enhanced host susceptibility to intracellular
            infection.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2746)
  AUTHORS   Bai,R., Haude,K., Yang,E., Goldstein,A. and Anselm,I.
  TITLE     First report of childhood progressive cerebellar atrophy due to
            compound heterozygous MTFMT variants
  JOURNAL   Clin Genet 97 (5), 793-794 (2020)
   PUBMED   32133637
  REMARK    GeneRIF: First report of childhood progressive cerebellar atrophy
            due to compound heterozygous MTFMT variants.
REFERENCE   4  (bases 1 to 2746)
  AUTHORS   Sinha,A., Kohrer,C., Weber,M.H., Masuda,I., Mootha,V.K., Hou,Y.M.
            and RajBhandary,U.L.
  TITLE     Biochemical characterization of pathogenic mutations in human
            mitochondrial methionyl-tRNA formyltransferase
  JOURNAL   J Biol Chem 289 (47), 32729-32741 (2014)
   PUBMED   25288793
  REMARK    GeneRIF: Data indicate that methionyl-tRNA formyltransferase (MTF)
            mutation initiated poor formylation of mitochondrial methionyl-tRNA
            and thereby reduced mitochondrial translation efficiency, causing
            Leigh syndrome.
            GeneRIF: Recessive mutations in MTFMT underlie defects of the
            mitochondrial respiratory chain, leading to multi-system disease
            that includes Leigh syndrome.  This paper reports on the
            biochemical activity of such mutant alleles.
REFERENCE   5  (bases 1 to 2746)
  AUTHORS   Haack,T.B., Gorza,M., Danhauser,K., Mayr,J.A., Haberberger,B.,
            Wieland,T., Kremer,L., Strecker,V., Graf,E., Memari,Y., Ahting,U.,
            Kopajtich,R., Wortmann,S.B., Rodenburg,R.J., Kotzaeridou,U.,
            Hoffmann,G.F., Sperl,W., Wittig,I., Wilichowski,E., Schottmann,G.,
            Schuelke,M., Plecko,B., Stephani,U., Strom,T.M., Meitinger,T.,
            Prokisch,H. and Freisinger,P.
  TITLE     Phenotypic spectrum of eleven patients and five novel MTFMT
            mutations identified by exome sequencing and candidate gene
            screening
  JOURNAL   Mol Genet Metab 111 (3), 342-352 (2014)
   PUBMED   24461907
  REMARK    GeneRIF: We provide detailed clinical descriptions on eleven MTFMT
            patients and review five previously reported cases
REFERENCE   6  (bases 1 to 2746)
  AUTHORS   Tucker,E.J., Hershman,S.G., Kohrer,C., Belcher-Timme,C.A.,
            Patel,J., Goldberger,O.A., Christodoulou,J., Silberstein,J.M.,
            McKenzie,M., Ryan,M.T., Compton,A.G., Jaffe,J.D., Carr,S.A.,
            Calvo,S.E., RajBhandary,U.L., Thorburn,D.R. and Mootha,V.K.
  TITLE     Mutations in MTFMT underlie a human disorder of formylation causing
            impaired mitochondrial translation
  JOURNAL   Cell Metab 14 (3), 428-434 (2011)
   PUBMED   21907147
  REMARK    GeneRIF: Mutations in MTFMT underlie a human disorder of
            formylation causing impaired mitochondrial translation.
REFERENCE   7  (bases 1 to 2746)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2746)
  AUTHORS   Takeuchi,N., Kawakami,M., Omori,A., Ueda,T., Spremulli,L.L. and
            Watanabe,K.
  TITLE     Mammalian mitochondrial methionyl-tRNA transformylase from bovine
            liver. Purification, characterization, and gene structure
  JOURNAL   J Biol Chem 273 (24), 15085-15090 (1998)
   PUBMED   9614118
REFERENCE   9  (bases 1 to 2746)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC295382.1, BC033687.1,
            AC103691.2 and BQ774051.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_139242.3.
            
            Summary: The protein encoded by this nuclear gene localizes to the
            mitochondrion, where it catalyzes the formylation of
            methionyl-tRNA. [provided by RefSeq, Jun 2011].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.186666.1,
                                           SRR3476690.992099.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000220058.9/
                                                  ENSP00000220058.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DC295382.1         1-12
            13-1295             BC033687.1         1-1283
            1296-1748           BC033687.1         1285-1737
            1749-2537           AC103691.2         72333-73121         c
            2538-2746           BQ774051.1         18-226              c
FEATURES             Location/Qualifiers
     source          1..2746
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q22.31"
     gene            1..2746
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /note="mitochondrial methionyl-tRNA formyltransferase"
                     /db_xref="GeneID:123263"
                     /db_xref="HGNC:HGNC:29666"
                     /db_xref="MIM:611766"
     exon            1..235
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1196
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /EC_number="2.1.2.9"
                     /codon_start=1
                     /product="methionyl-tRNA formyltransferase, mitochondrial"
                     /protein_id="NP_640335.2"
                     /db_xref="CCDS:CCDS45280.1"
                     /db_xref="GeneID:123263"
                     /db_xref="HGNC:HGNC:29666"
                     /db_xref="MIM:611766"
                     /translation="MRVLVRRCWGPPLAHGARRGRPSPQWRALARLGWEDCRDSRVRE
                     KPPWRVLFFGTDQFAREALRALHAARENKEEELIDKLEVVTMPSPSPKGLPVKQYAVQ
                     SQLPVYEWPDVGSGEYDVGVVASFGRLLNEALILKFPYGILNVHPSCLPRWRGPAPVI
                     HTVLHGDTVTGVTIMQIRPKRFDVGPILKQETVPVPPKSTAKELEAVLSRLGANMLIS
                     VLKNLPESLSNGRQQPMEGATYAPKISAGTSCIKWEEQTSEQIFRLYRAIGNIIPLQT
                     LWMANTIKLLDLVEVNSSVLADPKLTGQALIPGSVIYHKQSQILLVYCKDGWIGVRSV
                     MLKKSLTATDFYNGYLHPWYQKNSQAQPSQCRFQTLRLPTKKKQKKTVAMQQCIE"
     exon            236..445
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /inference="alignment:Splign:2.1.0"
     exon            446..568
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /inference="alignment:Splign:2.1.0"
     exon            569..671
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /inference="alignment:Splign:2.1.0"
     exon            672..747
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /inference="alignment:Splign:2.1.0"
     exon            748..839
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /inference="alignment:Splign:2.1.0"
     exon            840..918
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1001
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..2746
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1240..1245
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /note="hexamer: ATTAAA"
     polyA_site      1263
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /note="major polyA site"
     regulatory      1722..1727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /note="hexamer: AATAAA"
     polyA_site      1748
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /note="major polyA site"
     regulatory      2729..2734
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
                     /note="hexamer: AATAAA"
     polyA_site      2746
                     /gene="MTFMT"
                     /gene_synonym="COXPD15; FMT1; MC1DN27"
ORIGIN      
        1 agggccggcc gccggcggcc gaggcgatga gggtgttggt gcggcgctgt tggggtcctc
       61 cgctggctca tggcgccagg cgtgggaggc cgagtcccca gtggcgagca ctggcccgac
      121 tcggctggga ggactgccgg gactccagag tccgcgagaa gcctccctgg cgggtgctct
      181 tcttcggcac ggaccagttc gcccgcgagg cgctgcgggc gctgcacgcc gccagggaaa
      241 acaaagaaga agagttaatc gacaaactgg aggtggtcac aatgccttcc ccatcaccaa
      301 aaggactgcc agtgaagcaa tatgctgtgc agtctcagct tcccgtatat gagtggccgg
      361 atgtgggatc tggagaatat gatgttggag tagtggcttc gtttggccga cttttgaatg
      421 aggctcttat tcttaaattt ccctatggca tattgaatgt tcatcccagt tgcctcccga
      481 gatggcgtgg cccagcccct gtaatccata cagtgcttca cggagacaca gttactggag
      541 taacaattat gcaaattaga cctaaaaggt ttgatgtagg cccaattctc aaacaagaaa
      601 ctgttcctgt gccacccaag agcactgcaa aggaattgga agcagtgttg tcaagactgg
      661 gtgccaacat gctcatttca gttttgaaaa atttgcctga aagtctgagc aatggaaggc
      721 agcagccaat ggagggggcg acttacgccc ctaagatttc tgctggtacc agttgtataa
      781 aatgggagga acaaacttca gaacaaatat tcagacttta ccgtgccatt ggaaatataa
      841 ttccgttgca gacgctctgg atggcgaata ccattaaact tctggatttg gtagaagtta
      901 acagttcagt ccttgctgat ccaaaattaa cgggacaggc tcttattcca ggatcagtaa
      961 tataccacaa acagtcacaa atactattgg tttattgcaa ggatggttgg attggtgttc
     1021 gatcagtgat gctcaagaaa tcactaacag ctactgactt ctacaatgga tatttgcacc
     1081 cctggtacca gaaaaattcc caagctcaac caagccaatg cagatttcag actctcagac
     1141 ttccaacaaa gaagaagcag aaaaaaactg ttgctatgca acaatgcatt gagtagttag
     1201 gaagaagatg gataaaaacc tattacatat ttgtaattta ttaaaaacct tatttacaag
     1261 gaattatctg gacttttttt tttttttttt tttttgagac agagtctcac tctgtcaccc
     1321 aggctggaat ccagtggcac tatctcagct cactgcaacc tccgcctccc aggttcaagc
     1381 aattctcctg cctcagcctc ctgagtagct gggattacag gcacacgcca ccacacgcag
     1441 ctaatttttg tatttttagt agagatgggg tttcaccatg ttggtcaggc tggtctcgaa
     1501 ctcctgacct tgtgatctgc ccacctcagc ctcccaaagt gctatgatta cagacgtgag
     1561 ccaccgtgcc tggcctggaa ttatctggac tttcaaagaa gatggcatta ttataagaag
     1621 agaagattat tgccgaaaag atggattgcc tcactttcca ctttttatgt aacagtagtt
     1681 aaaaaacagc ttttttttta cttgaattac aaaaaagttt aaataaaact tgtatttatg
     1741 atacgaaact caaggagatt atctttcctt aagaacaagg gcaaccctaa ctggtgtatg
     1801 tatgtaccta catacatact gagaagaggt tttttgtttt tatttttatt tttttgagac
     1861 ggagtcttgt tctgtggccc aggctggagt gcagtggcgt gatgtcagct cactgcaagc
     1921 tccacctccc gggttcacac cattctcctg cctcagcctc ccaagtagct gggactacag
     1981 gcgtccgcca ccatgcctgg ctaatttttt tttttgtatt tttagtagag atggggtttc
     2041 actgtgttag ccaggatggt cttgatctcc tgacctcgtg atccacccgc cttggcctcc
     2101 caaagtgctg ggattacagc tgtgagccac cgtgcctggc cgagaagagg tttttttaaa
     2161 aacagtgcat ctatttaatt ttttaaaaat cgtgtcacca ctgacatttt aggagtattg
     2221 aatctgcatt ttttatttcc tataagtagt aaatccagct ctttacattt cactaccagc
     2281 tagatttaac caagtagtaa acgtaggtaa tatttaataa tctctgccac attgatctgt
     2341 actataaatt aacattttac atccagattt tatttttttt tattaatttt tttagagatg
     2401 gggtcttgct ctctcacaca gtctggagtc cagtggcgtg aaacactgct tactgcatct
     2461 tcaacctcct gggcttaagt gatcctccag cctcagcctc ccaaagtggg gccaccacgc
     2521 ctggctaatt ttctttctta gtttttaaaa aaaattttgt agagataggg gtctcactat
     2581 gttgcttagg ctggtcttga actcctgggc ccaagcaatc ctcctgcctt ggcctctcaa
     2641 agtgctggga ttacaagcat gaaccactgc acccggccca ggttttcttg aagtaggaac
     2701 gtgctaacat ttttcaactt acttgtgcaa taaaggttat tgagca
//
