LOCUS       NM_152269               1554 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens mitochondrial translation release factor in rescue
            (MTRFR), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_152269
VERSION     NM_152269.5
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 1554)
  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 1554)
  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 1554)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1554)
  AUTHORS   Desai,N., Yang,H., Chandrasekaran,V., Kazi,R., Minczuk,M. and
            Ramakrishnan,V.
  TITLE     Elongational stalling activates mitoribosome-associated quality
            control
  JOURNAL   Science 370 (6520), 1105-1110 (2020)
   PUBMED   33243891
REFERENCE   5  (bases 1 to 1554)
  AUTHORS   Ayyub,S.A., Gao,F., Lightowlers,R.N. and
            Chrzanowska-Lightowlers,Z.M.
  TITLE     Rescuing stalled mammalian mitoribosomes - what can we learn from
            bacteria?
  JOURNAL   J Cell Sci 133 (1) (2020)
   PUBMED   31896602
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1554)
  AUTHORS   Kogure,H., Hikawa,Y., Hagihara,M., Tochio,N., Koshiba,S., Inoue,Y.,
            Guntert,P., Kigawa,T., Yokoyama,S. and Nameki,N.
  TITLE     Solution structure and siRNA-mediated knockdown analysis of the
            mitochondrial disease-related protein C12orf65
  JOURNAL   Proteins 80 (11), 2629-2642 (2012)
   PUBMED   22821833
  REMARK    GeneRIF: Knockdown of C12orf65 resulted in increased reactive
            oxidative species production and apoptosis, leading to inhibition
            of cell proliferation.
REFERENCE   7  (bases 1 to 1554)
  AUTHORS   Duarte,I., Nabuurs,S.B., Magno,R. and Huynen,M.
  TITLE     Evolution and diversification of the organellar release factor
            family
  JOURNAL   Mol Biol Evol 29 (11), 3497-3512 (2012)
   PUBMED   22688947
REFERENCE   8  (bases 1 to 1554)
  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
  REMARK    GeneRIF: C12orf65 might play a role in recycling abortive
            peptidyl-tRNA species, released from the ribosome during the
            elongation phase of translation.
REFERENCE   9  (bases 1 to 1554)
  AUTHORS   Richter,R., Rorbach,J., Pajak,A., Smith,P.M., Wessels,H.J.,
            Huynen,M.A., Smeitink,J.A., Lightowlers,R.N. and
            Chrzanowska-Lightowlers,Z.M.
  TITLE     A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into
            the human mitochondrial ribosome
  JOURNAL   EMBO J 29 (6), 1116-1125 (2010)
   PUBMED   20186120
REFERENCE   10 (bases 1 to 1554)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU507560.1 and AC068768.31.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_152269.4.
            
            SUMMARY: This nuclear gene encodes a mitochondrial matrix protein
            that appears to contribute to peptide chain termination in the
            mitochondrial translation machinery. Two different 1 bp deletions
            (resulting in the same premature stop codon)result in decreased
            mitochondrial translation, decreased levels of oxidative
            phosphorylation complexes and encepthalomyopathy. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Aug 2010].
            
            Transcript Variant: This variant (1) uses the 5'-most alternate
            exon. Variants 1, 2, and 3 encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803615.282174.1,
                                           SRR1803617.79037.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000253233.6/
                                                  ENSP00000253233.1
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-529               BU507560.1         163-691
            530-1554            AC068768.31        65307-66331         c
FEATURES             Location/Qualifiers
     source          1..1554
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     gene            1..1554
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
                     /note="mitochondrial translation release factor in rescue"
                     /db_xref="GeneID:91574"
                     /db_xref="HGNC:HGNC:26784"
                     /db_xref="MIM:613541"
     exon            1..96
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
                     /inference="alignment:Splign:2.1.0"
     exon            97..406
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
                     /inference="alignment:Splign:2.1.0"
     CDS             125..625
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
                     /note="probable peptide chain release factor C12orf65,
                     mitochondrial"
                     /codon_start=1
                     /product="mitochondrial translation release factor in
                     rescue"
                     /protein_id="NP_689482.1"
                     /db_xref="CCDS:CCDS9244.1"
                     /db_xref="GeneID:91574"
                     /db_xref="HGNC:HGNC:26784"
                     /db_xref="MIM:613541"
                     /translation="MSTVGLFHFPTPLTRICPAPWGLRLWEKLTLLSPGIAVTPVQMA
                     GKKDYPALLSLDENELEEQFVKGHGPGGQATNKTSNCVVLKHIPSGIVVKCHQTRSVD
                     QNRKLARKILQEKVDVFYNGENSPVHKEKREAAKKKQERKKRAKETLEKKKLLKELWE
                     SSKKVH"
     exon            407..1554
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1505..1510
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
                     /note="hexamer: AATAAA"
     regulatory      1526..1531
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
                     /note="hexamer: AGTAAA"
     polyA_site      1526
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
                     /note="major polyA site"
     polyA_site      1554
                     /gene="MTRFR"
                     /gene_synonym="C12orf65; COXPD7; mtRF-R; SPG55"
ORIGIN      
        1 gcgtgcgcag atcagggatc gcgattgcga atcctccgct gaggtgattt ggatatccct
       61 agaacgttga gggcacgagt cgggtcctga gaccaggtcc tcagccagca gagccacgtt
      121 ccttatgagc accgtgggtt tatttcattt tcctacacca ctgacccgaa tatgcccggc
      181 gccatgggga ctccggcttt gggagaagct gacgttgtta tccccaggaa tagctgtcac
      241 tccggtccag atggcaggca agaaggacta ccctgcactg ctttccttgg atgagaatga
      301 actcgaagag cagtttgtga aaggacacgg tccagggggc caggcaacca acaaaaccag
      361 caactgcgtg gtgctgaagc acatcccctc aggcatcgtt gtaaagtgcc atcagacaag
      421 atcagttgat cagaacagaa agctagctcg gaaaatccta caagagaaag tagatgtttt
      481 ctacaatggt gaaaacagtc ctgttcacaa agaaaaacga gaagcggcga agaaaaaaca
      541 agaaaggaaa aaaagagcaa aggaaaccct ggaaaaaaag aagctactta aagaactgtg
      601 ggagtcaagt aaaaaggtcc actgagaaaa gaattagaga ttccaactga cagaatctgc
      661 cagaagctcc cagggaataa tggtggcgag ttccatcacc agcattatta tagtgcttca
      721 aaagaaatat ttttgatgaa cttaaaagac aacaaattta tttaaatggt gcactaaact
      781 gtagtgaaca gagacatgca cgattcaaga ataaaactcg gctgggcacg gtggacggtg
      841 cctcacatct gtaatcccag cactttggga ggccgaggcg ggcggatcac ttgaggtcag
      901 gagtttgaga ccagcctggc caacatggtg aaaccccgtc tctactaaaa atacaaaaaa
      961 ttagccaggc atggtggcgg gcacctgtaa tcccagctac tcgggaggcc gaggcaggag
     1021 aattgcgtga acctgggagg cggaggttgc agtgagctga gatcgcgcca ctgcactcaa
     1081 gcctgggcaa cacctgggtg acagagcgag accccatctc aaaaaaaaaa taaaactagt
     1141 tcaagtgcaa tgacacacgc ctataatccc agcaccttgg gaggctaaga caggaagatc
     1201 acctgagccc aggagctcaa gattgcagtg agctatgaac accactgcac tccacctgtc
     1261 cacttgttct tgtgtgacag aacaagaccc tgtctctaaa aaataagata aaaccataaa
     1321 gaaacacagt cagtactata caagaataat ggctacttct agagggaagg agttgtcatt
     1381 gtgatgaggc acttggaggg gttctggggt gcctgacaaa gttctgtttc ttcacctggg
     1441 tggtagttag aagggtgtcc ccgtatttca aattgtacct ttgtgagatt gtatgttttg
     1501 taataataaa attttttttg taattagtaa agtcaatttt tatggagaac tgga
//
