LOCUS       NM_019041               3700 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial translation release factor 1 like
            (MTRF1L), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_019041
VERSION     NM_019041.7
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 3700)
  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 3700)
  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 3700)
  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 3700)
  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 3700)
  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 3700)
  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 3700)
  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 3700)
  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 3700)
  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 3700)
  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, BC011873.2, AK095240.1, AI434611.1, AI479199.1,
            BU853336.1, BX105260.1 and AL080276.9.
            
            On Nov 22, 2018 this sequence version replaced NM_019041.6.
            
            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 (1) represents the longest
            transcript and encodes the longest 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 :: SRR1803613.720.1, SRR1660809.63983.1
                                           [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                 :: ENST00000367233.10/
                                                  ENSP00000356202.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-460               DA152954.1         107-566
            461-1845            BC011873.2         464-1848
            1846-2235           AK095240.1         1724-2113
            2236-2528           AI434611.1         1-293               c
            2529-2986           AI479199.1         1-458               c
            2987-3118           BU853336.1         441-572             c
            3119-3696           BX105260.1         14-591              c
            3697-3700           AL080276.9         46061-46064         c
FEATURES             Location/Qualifiers
     source          1..3700
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.2"
     gene            1..3700
                     /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..1167
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="isoform 1 is encoded by transcript variant 1;
                     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 1"
                     /protein_id="NP_061914.3"
                     /db_xref="CCDS:CCDS5243.1"
                     /db_xref="GeneID:54516"
                     /db_xref="HGNC:HGNC:21051"
                     /db_xref="MIM:613542"
                     /translation="MRSRVLWGAARWLWPRRAVGPARRPLSSGSPPLEELFTRGGPLR
                     TFLERQAGSEAHLKVRRPELLAVIKLLNEKERELRETEHLLHDENEDLRKLAENEITL
                     CQKEITQLKHQIILLLVPSEETDENDLILEVTAGVGGQEAMLFTSEIFDMYQQYAAFK
                     RWHFETLEYFPSELGGLRHASASIGGSEAYRHMKFEGGVHRVQRVPKTEKQGRVHTST
                     MTVAILPQPTEINLVINPKDLRIDTKRASGAGGQHVNTTDSAVRIVHLPTGVVSECQQ
                     ERSQLKNKELAMTKLRAKLYSMHLEEEINKRQNARKIQIGSKGRSEKIRTYNFPQNRV
                     TDHRINKTLHDLETFMQGDYLLDELVQSLKEYADYESLVEIISQKV"
     exon            284..363
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            364..547
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            548..711
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            712..829
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            830..966
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     exon            967..3700
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1390..1395
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="hexamer: AATAAA"
     polyA_site      1417
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="major polyA site"
     regulatory      2965..2970
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="hexamer: AATACA"
     polyA_site      2990
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
     regulatory      3663..3668
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRF1L"
                     /gene_synonym="HMRF1L; MRF1L; mtRF1a"
                     /note="hexamer: AATAAA"
     polyA_site      3700
                     /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 tcaggaggca atgttgttta catcagagat atttgatatg
      481 tatcagcaat atgctgcatt taaaagatgg cattttgaaa ccctggaata ttttccaagt
      541 gaactaggtg gccttagaca tgcatctgcc agcattgggg gttcagaagc ctataggcac
      601 atgaaatttg aaggaggtgt tcacagagta caaagagtgc caaagacaga aaagcaaggc
      661 cgcgtccata ctagcaccat gactgtagca atattacccc agcctactga gattaatctg
      721 gtgattaatc cgaaagattt gagaattgac actaagcgag ccagtggagc tggggggcag
      781 catgtaaata ccacggacag tgctgtccgg atagttcatc ttccaacagg tgttgtttct
      841 gaatgtcaac aagagagatc tcagctgaaa aataaagagc tggctatgac aaagttacgt
      901 gcaaaactgt acagcatgca tctagaagaa gaaataaata aaagacagaa tgctagaaaa
      961 attcagattg gaagtaaagg aagatcagag aaaataagaa catataattt tccacagaac
     1021 cgggtcacag atcacagaat aaacaagacg ctgcatgatc ttgaaacttt tatgcaagga
     1081 gattatctac tggatgaact tgtacagtca ttgaaggaat acgccgatta tgaatcttta
     1141 gtagaaatta tttcccaaaa agtttaagtt gatttgttat ttatagactt tcgtagctta
     1201 gaaaaattct acagtacatc cacatagggt gaaagtaccc ttactctctt gaaaaacgtt
     1261 gagttaacac agttggaggt aatatgcata ttctgaagtc atagataatt tacacagatc
     1321 tctctcaatg cattagcaaa aatcatacaa tatacagatg gtcctcgatt tacattgtgg
     1381 ttaattccca ataaacccat cataagttaa aaatgcatat aacgttagca acacagcagt
     1441 ctcctaatta atgacagctt gacttaacaa ttttccaact ttaccatggt gtgaaagagg
     1501 tatgattcct aagccctaag gagctcctca gcttgaaatg gggctgcatc cctataaacc
     1561 catcataaag tcaaaaaatc ctaaaacata agttggtgac catctgtaat catgatgtgg
     1621 tggtaaatct tggacgctac cttacaataa ctagacaaag gaaaatcatc ctttgtcctg
     1681 ttctgtgtaa atatttaatg aatgatcaaa acttcagttt aaatattatg aaaaacttta
     1741 aacataaagt agtagaaata agacagtaaa tactgtatcc taatatccag tcaggataca
     1801 gaaaccatac cattaacttg aacagggata attttaatat aaaaactgtt aactgataat
     1861 ggtattaact tttaagaggg atgaaagaga gctatgatgt cctaggactg agagtacccc
     1921 aggaaagaat acccttgaaa gggtctcccc ttccccatgg tgaagtcagg cctaatggag
     1981 agagtggcta cagcctactc agtgattggg aaattccctg tcttgccctg ggccagagct
     2041 ggtgtaccgc tggtggatca ggtcttacaa gcaaagaacc tcacactccc aactggtaag
     2101 ccagaagcct cttgctaggg tgtgagcaaa acttggacag gaactctcag tagatgtttg
     2161 tgtttgtcaa gattctccag acaaacttcc ttaaaaggat tggcttgtgt tgttattatt
     2221 aagtctaaca agtccaaaag ctggagtgtg aggcaggagg ctggaaaccc aggaaagctg
     2281 atggtgcaag gtccagtcca aaggtatctg ttggaggatt ctcttgttct gggaagagga
     2341 cggtcttttt ttctcttcag accttcacct gactggatca agcccactaa catcgaggag
     2401 gacagtctgc attactcaga gttcactgat tgatttaaat gtcaatctca tataaaacac
     2461 cctcacagaa acacctagaa taatgtttga ccttataatt ggaaaatcag agcaaaagtt
     2521 aaatctcaaa aaaaaaaaaa aaaaaagtat gacccagtag ctaggcacct gtggccccgc
     2581 caagttgaca cataaaatta actgtcacag tatcatctta gaagtgaaag aagccccttt
     2641 atcctgcagt gcccctctac caccacctac tgacaaagaa catggtgcta tctggcatgg
     2701 gagaaatgtt cagtttgcta tggcttgtat gtgtcccctc aaattcaagt gttgccaatg
     2761 tgacagcatc aagaggtggg gtctttaaga gatcactagg ccatgaggga ttctcttagg
     2821 actgggatga aggcccataa taaaagaggt ttcggggagc atcctgctag cttgccttct
     2881 gtatgtgaga acacagcaag aaagccctag tcaacaagtg ccagctcctt gatcttagac
     2941 ttcccatcct ccagaactgt gagaaataca tttctgttcc ttacaaatta cccagtctcc
     3001 tgtattctgt tatagcagca caaaatgaag ataccatacc tgaacacctg aacattcttc
     3061 acaaggtagt aaatgcactg ctttattctg gtctcagtat tgtgtgctta ataaggaaat
     3121 gagaaagggt ggatcagggc ataggatgaa caagttactg ctagacctct cacaatgcca
     3181 ctaatggata agattgtatt ttcatcattc ttgtctcttc ggaagctaac accatgctat
     3241 aataggcact aaatagatgt ctaaaaacac cttaagtatt tgtctagaaa tctggtgcat
     3301 tgttcagaaa gaaccaaaat tcaaaataat ttcaaagggc ctaaagcact agttaatcaa
     3361 aattcattag tttttaatgg tactaccact ctcaaattta aaatgtcatc ttacgttcct
     3421 cttcctcgca ttggatttat tgctaaaacc tggtaaacac ttttaatcct tttcaattcc
     3481 attaccactg ctcttgtcca gaattacttc gcagactaat agtcacctga cttctcccct
     3541 gcatccgatt tgctgtctaa ttctggttac aaataagtaa ctgccaaact aatctttcta
     3601 aaaagcaaga ctgatctcgt cactcctttg ctcaacaatg taaaagctcc cattgtctcc
     3661 caaataaaac cagctttcca ctgtgtatac aatacatcca
//
