LOCUS       NM_004294               2184 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial translation release factor 1 (MTRF1),
            transcript variant 5, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_004294
VERSION     NM_004294.4
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 2184)
  AUTHORS   Saurer,M., Leibundgut,M., Nadimpalli,H.P., Scaiola,A., Schonhut,T.,
            Lee,R.G., Siira,S.J., Rackham,O., Dreos,R., Lenarcic,T., Kummer,E.,
            Gatfield,D., Filipovska,A. and Ban,N.
  TITLE     Molecular basis of translation termination at noncanonical stop
            codons in human mitochondria
  JOURNAL   Science 380 (6644), 531-536 (2023)
   PUBMED   37141370
  REMARK    GeneRIF: Molecular basis of translation termination at noncanonical
            stop codons in human mitochondria.
REFERENCE   2  (bases 1 to 2184)
  AUTHORS   Kruger,A., Remes,C., Shiriaev,D.I., Liu,Y., Spahr,H., Wibom,R.,
            Atanassov,I., Nguyen,M.D., Cooperman,B.S. and Rorbach,J.
  TITLE     Human mitochondria require mtRF1 for translation termination at
            non-canonical stop codons
  JOURNAL   Nat Commun 14 (1), 30 (2023)
   PUBMED   36596788
  REMARK    GeneRIF: Human mitochondria require mtRF1 for translation
            termination at non-canonical stop codons.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2184)
  AUTHORS   Nadler,F., Lavdovskaia,E., Krempler,A., Cruz-Zaragoza,L.D.,
            Dennerlein,S. and Richter-Dennerlein,R.
  TITLE     Human mtRF1 terminates COX1 translation and its ablation induces
            mitochondrial ribosome-associated quality control
  JOURNAL   Nat Commun 13 (1), 6406 (2022)
   PUBMED   36302763
  REMARK    GeneRIF: Human mtRF1 terminates COX1 translation and its ablation
            induces mitochondrial ribosome-associated quality control.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2184)
  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   5  (bases 1 to 2184)
  AUTHORS   Antonicka,H., Ostergaard,E., Sasarman,F., Weraarpachai,W.,
            Wibrand,F., Pedersen,A.M., Rodenburg,R.J., van der Knaap,M.S.,
            Smeitink,J.A., Chrzanowska-Lightowlers,Z.M. and Shoubridge,E.A.
  TITLE     Mutations in C12orf65 in patients with encephalomyopathy and a
            mitochondrial translation defect
  JOURNAL   Am J Hum Genet 87 (1), 115-122 (2010)
   PUBMED   20598281
REFERENCE   6  (bases 1 to 2184)
  AUTHORS   Nozaki,Y., Matsunaga,N., Ishizawa,T., Ueda,T. and Takeuchi,N.
  TITLE     HMRF1L is a human mitochondrial translation release factor involved
            in the decoding of the termination codons UAA and UAG
  JOURNAL   Genes Cells 13 (5), 429-438 (2008)
   PUBMED   18429816
REFERENCE   7  (bases 1 to 2184)
  AUTHORS   Soleimanpour-Lichaei,H.R., Kuhl,I., Gaisne,M., Passos,J.F.,
            Wydro,M., Rorbach,J., Temperley,R., Bonnefoy,N., Tate,W.,
            Lightowlers,R. and Chrzanowska-Lightowlers,Z.
  TITLE     mtRF1a is a human mitochondrial translation release factor decoding
            the major termination codons UAA and UAG
  JOURNAL   Mol Cell 27 (5), 745-757 (2007)
   PUBMED   17803939
  REMARK    GeneRIF: Purified mtRF1 did not induce translation termination in
            vitro nor did mtRF1 restore mitochondrial translation machinery in
            mutated S. cerevisiae in vivo. A different mtRF, mtRF1a, was found.
REFERENCE   8  (bases 1 to 2184)
  AUTHORS   Hansen,L.L., Jorgensen,R. and Justesen,J.
  TITLE     Assignment of the human mitochondrial translational release factor
            1 (MTRF1) to chromosome 13q14.1-->q14.3 and of the human
            mitochondrial ribosome recycling factor (MRRF) to chromosome
            9q32-->q34.1 with radiation hybrid mapping
  JOURNAL   Cytogenet Cell Genet 88 (1-2), 91-92 (2000)
   PUBMED   10773675
REFERENCE   9  (bases 1 to 2184)
  AUTHORS   Zhang,Y. and Spremulli,L.L.
  TITLE     Identification and cloning of human mitochondrial translational
            release factor 1 and the ribosome recycling factor
  JOURNAL   Biochim Biophys Acta 1443 (1-2), 245-250 (1998)
   PUBMED   9838146
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354696.11.
            
            On Nov 22, 2018 this sequence version replaced NM_004294.3.
            
            Summary: The protein encoded by this gene was determined by in
            silico methods to be a mitochondrial protein with similarity to the
            peptide chain release factors (RFs) discovered in bacteria and
            yeast. The peptide chain release factors direct the termination of
            translation in response to the peptide chain termination codons.
            Initially thought to have a role in the termination of mitochondria
            protein synthesis, a recent publication found no mitochondrial
            translation release functionality. Multiple alternatively spliced
            transcript variants have been suggested by mRNA and EST data;
            however, their full-length natures are not clear. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (5) differs in the 5' UTR compared
            to variant 1. All four variants encode the same protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.150033.1,
                                           SRR1660803.234260.1 [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                 :: ENST00000379480.9/
                                                  ENSP00000368793.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-92                AL354696.11        144282-144373       c
            93-515              AL354696.11        141290-141712       c
            516-607             AL354696.11        135326-135417       c
            608-689             AL354696.11        133746-133827       c
            690-797             AL354696.11        133442-133549       c
            798-970             AL354696.11        121058-121230       c
            971-1088            AL354696.11        114687-114804       c
            1089-1225           AL354696.11        107229-107365       c
            1226-1324           AL354696.11        104053-104151       c
            1325-2184           AL354696.11        97166-98025         c
FEATURES             Location/Qualifiers
     source          1..2184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..2184
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /note="mitochondrial translation release factor 1"
                     /db_xref="GeneID:9617"
                     /db_xref="HGNC:HGNC:7469"
                     /db_xref="MIM:604601"
     exon            1..92
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /inference="alignment:Splign:2.1.0"
     exon            93..515
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             101..1438
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /note="mitochontrial peptide chain release factor 1;
                     mitochondrial translational release factor 1; MRF-1;
                     mtRF-1"
                     /codon_start=1
                     /product="peptide chain release factor 1, mitochondrial"
                     /protein_id="NP_004285.2"
                     /db_xref="CCDS:CCDS9378.1"
                     /db_xref="GeneID:9617"
                     /db_xref="HGNC:HGNC:7469"
                     /db_xref="MIM:604601"
                     /translation="MNRHLCVWLFRHPSLNGYLQCHIQLHSHQFRQIHLDTRLQVFRQ
                     NRNCILHLLSKNWSRRYCHQDTKMLWKHKALQKYMENLSKEYQTLEQCLQHIPVNEEN
                     RRSLNRRHAELAPLAAIYQEIQETEQAIEELESMCKSLNKQDEKQLQELALEERQTID
                     QKINMLYNELFQSLVPKEKYDKNDVILEVTAGRTTGGDICQQFTREIFDMYQNYSCYK
                     HWQFELLNYTPADYGGLHHAAARISGDGVYKHLKYEGGIHRVQRIPEVGLSSRMQRIH
                     TGTMSVIVLPQPDEVDVKLDPKDLRIDTFRAKGAGGQHVNKTDSAVRLVHIPTGLVVE
                     CQQERSQIKNKEIAFRVLRARLYQQIIEKDKRQQQSARKLQVGTRAQSERIRTYNFTQ
                     DRVSDHRIAYEVRDIKEFLCGGKGLDQLIQRLLQSADEEAIAELLDEHLKSAK"
     exon            516..607
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /inference="alignment:Splign:2.1.0"
     exon            608..689
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /inference="alignment:Splign:2.1.0"
     exon            690..797
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /inference="alignment:Splign:2.1.0"
     exon            798..970
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1088
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1089..1225
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1226..1324
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /inference="alignment:Splign:2.1.0"
     exon            1325..2184
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1561..1566
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /note="hexamer: AATATA"
     polyA_site      1585
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /note="major polyA site"
     regulatory      2162..2167
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /note="hexamer: AATAAG"
     polyA_site      2184
                     /gene="MTRF1"
                     /gene_synonym="MRF1; MTTRF1; RF1"
                     /note="major polyA site"
ORIGIN      
        1 gtgatctcgg gtttgtcggg ctgaaatgtg gcgggtctcg gaaggttccg acctcagtaa
       61 agagagctaa cgtgtattct tctttttctt agatgctgag atgaatcgtc acctgtgtgt
      121 ttggcttttt agacatccat ctcttaatgg ttacctccag tgtcacatcc agctccattc
      181 tcatcaattt agacagatac atcttgatac aaggctgcaa gtttttagac aaaacaggaa
      241 ttgcattctt catctgttaa gtaagaattg gtccaggaga tattgccatc aagacaccaa
      301 gatgctctgg aagcataaag cactacagaa atatatggag aacctgagta aggagtacca
      361 aacacttgag caatgtctgc agcatatccc tgtgaatgag gaaaaccgaa ggtccttgaa
      421 cagaaggcat gctgagttgg cacctcttgc agccatttac caagaaattc aggagactga
      481 acaagcaatt gaagaattag aatcaatgtg taaaagccta aataaacaag atgaaaagca
      541 gttacaagaa cttgcactgg aagaaaggca aaccattgat caaaaaatca acatgttgta
      601 caatgagctt ttccagagcc ttgtgccaaa ggagaaatat gacaaaaatg atgttatttt
      661 agaggtgaca gctggaagga ctactggagg tgacatctgc caacaattta cccgagaaat
      721 atttgacatg taccagaatt attcgtgcta taaacactgg caatttgaac ttctgaatta
      781 tacaccagca gattatggtg gactacatca tgcagccgcc cgaatttccg gtgacggtgt
      841 ctataagcat ttgaagtatg agggtgggat tcaccgagtt cagcgcatcc ccgaggtggg
      901 cctgtcctca aggatgcagc gcattcacac aggaacgatg tcggttattg tccttcctca
      961 gccagatgag gtggatgtga aattggaccc caaggatttg cgaatagata catttcgagc
     1021 caaaggagca ggagggcagc atgttaataa aactgatagt gccgtcagac ttgtccacat
     1081 ccccacaggg ctagtagtag aatgccaaca agaaagatca cagataaaaa ataaagaaat
     1141 agcctttcgt gtgttgagag ctagactcta ccagcagatt attgagaaag acaagcgtca
     1201 gcaacaaagt gctagaaaac tgcaggtggg aacaagagcc cagtcagagc gaattcggac
     1261 atataatttc acccaggata gagtcagtga ccacaggata gcatatgaag ttcgtgatat
     1321 taaggaattt ttatgtggtg ggaagggcct ggatcagcta attcagagac tgcttcaatc
     1381 agcagatgaa gaagccattg ctgaactttt ggatgaacac cttaaatcag caaaataaat
     1441 actaacttat tattatttat gattatataa atgaaatgga cctatatcaa gaggcagact
     1501 gaagcttgga aatcattatg aatatttgta aattacagct ttaagaacac attacacata
     1561 aatatatgtt ttgtaattaa tcgaagtcac atttcctgac ctaagaattt attttaggtt
     1621 tcctgtaaag tacaatccaa ctcatcaagt agaaaataag catgcatcat tgaaaagaga
     1681 aagtattgag aattgattgt gtcatttagg acaagtcact tgttctcttt atatgccttt
     1741 tttccccagc catctatgaa ttaatttaaa tatattttta atctactact tcaggaaaat
     1801 atggtaaaat ttagtaaaat atgaatttta gacttcctta taaacctttt atttaaatac
     1861 aaagtacctt ggcctatagt ggatgcttat gcctgtaatc ccagtgcttt gaagggccaa
     1921 agggggaaga tctcttgagg taagaatttg agaccagcct gggcaaaata gaccccatgt
     1981 ctacaaaaaa actcaaaaca taaagaaaaa ccataatact gttaatcatg ttaaagttaa
     2041 gacttagact gcaactttta aataaaaatt atgaagaata tgagtcattc aataacaatg
     2101 agcatctggg tacagacagt aaagcccttt gattgctgta tgaattccac actatataaa
     2161 caataagctg atattttaaa taga
//
