LOCUS       NM_001301870            3592 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial translation release factor 1 like
            (MTRF1L), transcript variant 2, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001301870 XM_005267035
VERSION     NM_001301870.2
KEYWORDS    RefSeq.
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 3592)
  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 3592)
  AUTHORS   Kummer,E., Schubert,K.N., Schoenhut,T., Scaiola,A. and Ban,N.
  TITLE     Structural basis of translation termination, rescue, and recycling
            in mammalian mitochondria
  JOURNAL   Mol Cell 81 (12), 2566-2582 (2021)
   PUBMED   33878294
REFERENCE   3  (bases 1 to 3592)
  AUTHORS   Eeles,R.A., Olama,A.A., Benlloch,S., Saunders,E.J.,
            Leongamornlert,D.A., Tymrakiewicz,M., Ghoussaini,M., Luccarini,C.,
            Dennis,J., Jugurnauth-Little,S., Dadaev,T., Neal,D.E., Hamdy,F.C.,
            Donovan,J.L., Muir,K., Giles,G.G., Severi,G., Wiklund,F.,
            Gronberg,H., Haiman,C.A., Schumacher,F., Henderson,B.E., Le
            Marchand,L., Lindstrom,S., Kraft,P., Hunter,D.J., Gapstur,S.,
            Chanock,S.J., Berndt,S.I., Albanes,D., Andriole,G., Schleutker,J.,
            Weischer,M., Canzian,F., Riboli,E., Key,T.J., Travis,R.C.,
            Campa,D., Ingles,S.A., John,E.M., Hayes,R.B., Pharoah,P.D.,
            Pashayan,N., Khaw,K.T., Stanford,J.L., Ostrander,E.A.,
            Signorello,L.B., Thibodeau,S.N., Schaid,D., Maier,C., Vogel,W.,
            Kibel,A.S., Cybulski,C., Lubinski,J., Cannon-Albright,L.,
            Brenner,H., Park,J.Y., Kaneva,R., Batra,J., Spurdle,A.B.,
            Clements,J.A., Teixeira,M.R., Dicks,E., Lee,A., Dunning,A.M.,
            Baynes,C., Conroy,D., Maranian,M.J., Ahmed,S., Govindasami,K.,
            Guy,M., Wilkinson,R.A., Sawyer,E.J., Morgan,A., Dearnaley,D.P.,
            Horwich,A., Huddart,R.A., Khoo,V.S., Parker,C.C., Van As,N.J.,
            Woodhouse,C.J., Thompson,A., Dudderidge,T., Ogden,C., Cooper,C.S.,
            Lophatananon,A., Cox,A., Southey,M.C., Hopper,J.L., English,D.R.,
            Aly,M., Adolfsson,J., Xu,J., Zheng,S.L., Yeager,M., Kaaks,R.,
            Diver,W.R., Gaudet,M.M., Stern,M.C., Corral,R., Joshi,A.D.,
            Shahabi,A., Wahlfors,T., Tammela,T.L., Auvinen,A., Virtamo,J.,
            Klarskov,P., Nordestgaard,B.G., Roder,M.A., Nielsen,S.F.,
            Bojesen,S.E., Siddiq,A., Fitzgerald,L.M., Kolb,S., Kwon,E.M.,
            Karyadi,D.M., Blot,W.J., Zheng,W., Cai,Q., McDonnell,S.K.,
            Rinckleb,A.E., Drake,B., Colditz,G., Wokolorczyk,D.,
            Stephenson,R.A., Teerlink,C., Muller,H., Rothenbacher,D.,
            Sellers,T.A., Lin,H.Y., Slavov,C., Mitev,V., Lose,F.,
            Srinivasan,S., Maia,S., Paulo,P., Lange,E., Cooney,K.A.,
            Antoniou,A.C., Vincent,D., Bacot,F., Tessier,D.C., Kote-Jarai,Z.
            and Easton,D.F.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391 (2013)
   PUBMED   23535732
REFERENCE   4  (bases 1 to 3592)
  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   5  (bases 1 to 3592)
  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 3592)
  AUTHORS   Vieira,A.R., McHenry,T.G., Daack-Hirsch,S., Murray,J.C. and
            Marazita,M.L.
  TITLE     Candidate gene/loci studies in cleft lip/palate and dental
            anomalies finds novel susceptibility genes for clefts
  JOURNAL   Genet Med 10 (9), 668-674 (2008)
   PUBMED   18978678
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3592)
  AUTHORS   Ishizawa,T., Nozaki,Y., Ueda,T. and Takeuchi,N.
  TITLE     The human mitochondrial translation release factor HMRF1L is
            methylated in the GGQ motif by the methyltransferase HMPrmC
  JOURNAL   Biochem Biophys Res Commun 373 (1), 99-103 (2008)
   PUBMED   18541145
  REMARK    GeneRIF: The methylation of HMRF1L by HMPrmC in human mitochondria
            is involved in the control of the translation termination process.
REFERENCE   8  (bases 1 to 3592)
  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
  REMARK    GeneRIF: Study identified a human mitochondrial release factor
            candidate, HMRF1L, and demonstrated that HMRF1L is indeed a
            mitochondrial protein that functions specifically as an RF for the
            decoding of mitochondrial UAA and UAG termination codons in vitro.
REFERENCE   9  (bases 1 to 3592)
  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: mtRF1a is a mitochondrial translation release factor that
            is capable in vitro and in vivo of terminating translation at
            UAA/UAG codons.
REFERENCE   10 (bases 1 to 3592)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA152954.1, AK297671.1, BC011873.2, AK095240.1, AI434611.1,
            AI479199.1, BU853336.1, BX105260.1 and AL080276.9.
            
            On May 31, 2019 this sequence version replaced NM_001301870.1.
            
            Summary: The protein encoded by this gene plays a role in
            mitochondrial translation termination, and is thought to be a
            release factor that is involved in the dissociation of the complete
            protein from the final tRNA, the ribosome, and the cognate mRNA.
            This protein acts upon UAA and UAG stop codons, but has no in vitro
            activity against UGA, which encodes tryptophan in human
            mitochondrion, or, the mitochondrial non-cognate stop codons, AGA
            and AGG. This protein shares sequence similarity to bacterial
            release factors. Pseudogenes of this gene are found on chromosomes
            4, 8, and 11. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Sep 2014].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 1. This
            variant encodes isoform 2, which 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 :: SRR1803613.113474.1,
                                           DRR138524.814761.1 [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
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-251               DA152954.1         107-357
            252-555             AK297671.1         333-636
            556-1737            BC011873.2         667-1848
            1738-2127           AK095240.1         1724-2113
            2128-2420           AI434611.1         1-293               c
            2421-2878           AI479199.1         1-458               c
            2879-3010           BU853336.1         441-572             c
            3011-3588           BX105260.1         14-591              c
            3589-3592           AL080276.9         46061-46064         c
FEATURES             Location/Qualifiers
     source          1..3592
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.2"
     gene            1..3592
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="mitochondrial translation release factor 1 like"
                     /db_xref="GeneID:54516"
                     /db_xref="HGNC:HGNC:21051"
                     /db_xref="MIM:613542"
     exon            1..283
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..1059
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="isoform 2 is encoded by transcript variant 2;
                     mitochondrial release factor 1 like; peptide chain release
                     factor 1-like, mitochondrial; mitochondrial translational
                     release factor 1 like"
                     /codon_start=1
                     /product="peptide chain release factor 1-like,
                     mitochondrial isoform 2"
                     /protein_id="NP_001288799.1"
                     /db_xref="GeneID:54516"
                     /db_xref="HGNC:HGNC:21051"
                     /db_xref="MIM:613542"
                     /translation="MRSRVLWGAARWLWPRRAVGPARRPLSSGSPPLEELFTRGGPLR
                     TFLERQAGSEAHLKVRRPELLAVIKLLNEKERELRETEHLLHDENEDLRKLAENEITL
                     CQKEITQLKHQIILLLVPSEETDENDLILEVTAGVGGGLRHASASIGGSEAYRHMKFE
                     GGVHRVQRVPKTEKQGRVHTSTMTVAILPQPTEINLVINPKDLRIDTKRASGAGGQHV
                     NTTDSAVRIVHLPTGVVSECQQERSQLKNKELAMTKLRAKLYSMHLEEEINKRQNARK
                     IQIGSKGRSEKIRTYNFPQNRVTDHRINKTLHDLETFMQGDYLLDELVQSLKEYADYE
                     SLVEIISQKV"
     exon            284..363
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            364..439
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            440..603
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            604..721
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            722..858
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            859..3592
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1282..1287
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="hexamer: AATAAA"
     polyA_site      1309
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="major polyA site"
     regulatory      2857..2862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="hexamer: AATACA"
     polyA_site      2882
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
     regulatory      3555..3560
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="hexamer: AATAAA"
     polyA_site      3592
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
ORIGIN      
        1 agggtccgcg atctcggact aaggatgcgg tcccgggttc tgtggggcgc tgcccggtgg
       61 ctctggcccc gccgggccgt tggcccagcc cgccggcccc tgagctccgg tagcccgccg
      121 ctggaggagc tgttcacccg gggcgggccc ttgcggacct tcctcgagcg ccaggcgggg
      181 tctgaagccc atttgaaggt caggaggccc gagttgctgg cggtgatcaa actgctgaac
      241 gagaaggagc gggagctgcg ggagactgag cacttgctgc acgatgagaa tgaagattta
      301 aggaaacttg cagagaatga aatcactttg tgtcaaaaag aaataactca gctgaagcat
      361 cagattatct tacttttggt tccctcagaa gaaacagatg aaaatgattt gatcctggaa
      421 gtaactgcag gagttggagg tggccttaga catgcatctg ccagcattgg gggttcagaa
      481 gcctataggc acatgaaatt tgaaggaggt gttcacagag tacaaagagt gccaaagaca
      541 gaaaagcaag gccgcgtcca tactagcacc atgactgtag caatattacc ccagcctact
      601 gagattaatc tggtgattaa tccgaaagat ttgagaattg acactaagcg agccagtgga
      661 gctggggggc agcatgtaaa taccacggac agtgctgtcc ggatagttca tcttccaaca
      721 ggtgttgttt ctgaatgtca acaagagaga tctcagctga aaaataaaga gctggctatg
      781 acaaagttac gtgcaaaact gtacagcatg catctagaag aagaaataaa taaaagacag
      841 aatgctagaa aaattcagat tggaagtaaa ggaagatcag agaaaataag aacatataat
      901 tttccacaga accgggtcac agatcacaga ataaacaaga cgctgcatga tcttgaaact
      961 tttatgcaag gagattatct actggatgaa cttgtacagt cattgaagga atacgccgat
     1021 tatgaatctt tagtagaaat tatttcccaa aaagtttaag ttgatttgtt atttatagac
     1081 tttcgtagct tagaaaaatt ctacagtaca tccacatagg gtgaaagtac ccttactctc
     1141 ttgaaaaacg ttgagttaac acagttggag gtaatatgca tattctgaag tcatagataa
     1201 tttacacaga tctctctcaa tgcattagca aaaatcatac aatatacaga tggtcctcga
     1261 tttacattgt ggttaattcc caataaaccc atcataagtt aaaaatgcat ataacgttag
     1321 caacacagca gtctcctaat taatgacagc ttgacttaac aattttccaa ctttaccatg
     1381 gtgtgaaaga ggtatgattc ctaagcccta aggagctcct cagcttgaaa tggggctgca
     1441 tccctataaa cccatcataa agtcaaaaaa tcctaaaaca taagttggtg accatctgta
     1501 atcatgatgt ggtggtaaat cttggacgct accttacaat aactagacaa aggaaaatca
     1561 tcctttgtcc tgttctgtgt aaatatttaa tgaatgatca aaacttcagt ttaaatatta
     1621 tgaaaaactt taaacataaa gtagtagaaa taagacagta aatactgtat cctaatatcc
     1681 agtcaggata cagaaaccat accattaact tgaacaggga taattttaat ataaaaactg
     1741 ttaactgata atggtattaa cttttaagag ggatgaaaga gagctatgat gtcctaggac
     1801 tgagagtacc ccaggaaaga atacccttga aagggtctcc ccttccccat ggtgaagtca
     1861 ggcctaatgg agagagtggc tacagcctac tcagtgattg ggaaattccc tgtcttgccc
     1921 tgggccagag ctggtgtacc gctggtggat caggtcttac aagcaaagaa cctcacactc
     1981 ccaactggta agccagaagc ctcttgctag ggtgtgagca aaacttggac aggaactctc
     2041 agtagatgtt tgtgtttgtc aagattctcc agacaaactt ccttaaaagg attggcttgt
     2101 gttgttatta ttaagtctaa caagtccaaa agctggagtg tgaggcagga ggctggaaac
     2161 ccaggaaagc tgatggtgca aggtccagtc caaaggtatc tgttggagga ttctcttgtt
     2221 ctgggaagag gacggtcttt ttttctcttc agaccttcac ctgactggat caagcccact
     2281 aacatcgagg aggacagtct gcattactca gagttcactg attgatttaa atgtcaatct
     2341 catataaaac accctcacag aaacacctag aataatgttt gaccttataa ttggaaaatc
     2401 agagcaaaag ttaaatctca aaaaaaaaaa aaaaaaaagt atgacccagt agctaggcac
     2461 ctgtggcccc gccaagttga cacataaaat taactgtcac agtatcatct tagaagtgaa
     2521 agaagcccct ttatcctgca gtgcccctct accaccacct actgacaaag aacatggtgc
     2581 tatctggcat gggagaaatg ttcagtttgc tatggcttgt atgtgtcccc tcaaattcaa
     2641 gtgttgccaa tgtgacagca tcaagaggtg gggtctttaa gagatcacta ggccatgagg
     2701 gattctctta ggactgggat gaaggcccat aataaaagag gtttcgggga gcatcctgct
     2761 agcttgcctt ctgtatgtga gaacacagca agaaagccct agtcaacaag tgccagctcc
     2821 ttgatcttag acttcccatc ctccagaact gtgagaaata catttctgtt ccttacaaat
     2881 tacccagtct cctgtattct gttatagcag cacaaaatga agataccata cctgaacacc
     2941 tgaacattct tcacaaggta gtaaatgcac tgctttattc tggtctcagt attgtgtgct
     3001 taataaggaa atgagaaagg gtggatcagg gcataggatg aacaagttac tgctagacct
     3061 ctcacaatgc cactaatgga taagattgta ttttcatcat tcttgtctct tcggaagcta
     3121 acaccatgct ataataggca ctaaatagat gtctaaaaac accttaagta tttgtctaga
     3181 aatctggtgc attgttcaga aagaaccaaa attcaaaata atttcaaagg gcctaaagca
     3241 ctagttaatc aaaattcatt agtttttaat ggtactacca ctctcaaatt taaaatgtca
     3301 tcttacgttc ctcttcctcg cattggattt attgctaaaa cctggtaaac acttttaatc
     3361 cttttcaatt ccattaccac tgctcttgtc cagaattact tcgcagacta atagtcacct
     3421 gacttctccc ctgcatccga tttgctgtct aattctggtt acaaataagt aactgccaaa
     3481 ctaatctttc taaaaagcaa gactgatctc gtcactcctt tgctcaacaa tgtaaaagct
     3541 cccattgtct cccaaataaa accagctttc cactgtgtat acaatacatc ca
//
