LOCUS       NM_016487               1158 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens mitochondrial transcription rescue factor 1 (MTRES1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016487
VERSION     NM_016487.5
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 1158)
  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   2  (bases 1 to 1158)
  AUTHORS   Gopalakrishna,S., Pearce,S.F., Dinan,A.M., Schober,F.A.,
            Cipullo,M., Spahr,H., Khawaja,A., Maffezzini,C., Freyer,C.,
            Wredenberg,A., Atanassov,I., Firth,A.E. and Rorbach,J.
  TITLE     C6orf203 is an RNA-binding protein involved in mitochondrial
            protein synthesis
  JOURNAL   Nucleic Acids Res 47 (17), 9386-9399 (2019)
   PUBMED   31396629
  REMARK    GeneRIF: Although mitoribosome stability is not affected in
            C6orf203-depleted cells, mitoribosome profiling analysis revealed a
            global disruption of the association of mt-mRNAs with the
            mitoribosome, suggesting that C6orf203 may be required for the
            proper maturation and functioning of the mitoribosome.
REFERENCE   3  (bases 1 to 1158)
  AUTHORS   Kotrys,A.V., Cysewski,D., Czarnomska,S.D., Pietras,Z.,
            Borowski,L.S., Dziembowski,A. and Szczesny,R.J.
  TITLE     Quantitative proteomics revealed C6orf203/MTRES1 as a factor
            preventing stress-induced transcription deficiency in human
            mitochondria
  JOURNAL   Nucleic Acids Res 47 (14), 7502-7517 (2019)
   PUBMED   31226201
  REMARK    GeneRIF: Data show that mitochondrial transcription rescue factor 1
            (MTRES1) is elevated in cells under stress and that this
            upregulation of MTRES1 prevents mitochondrial transcript loss under
            perturbed mitochondrial gene expression.
REFERENCE   4  (bases 1 to 1158)
  AUTHORS   Zhao,X., Leon,I.R., Bak,S., Mogensen,M., Wrzesinski,K., Hojlund,K.
            and Jensen,O.N.
  TITLE     Phosphoproteome analysis of functional mitochondria isolated from
            resting human muscle reveals extensive phosphorylation of inner
            membrane protein complexes and enzymes
  JOURNAL   Mol Cell Proteomics 10 (1), M110.000299 (2011)
   PUBMED   20833797
REFERENCE   5  (bases 1 to 1158)
  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   6  (bases 1 to 1158)
  AUTHORS   Stelzl,U., Worm,U., Lalowski,M., Haenig,C., Brembeck,F.H.,
            Goehler,H., Stroedicke,M., Zenkner,M., Schoenherr,A., Koeppen,S.,
            Timm,J., Mintzlaff,S., Abraham,C., Bock,N., Kietzmann,S.,
            Goedde,A., Toksoz,E., Droege,A., Krobitsch,S., Korn,B.,
            Birchmeier,W., Lehrach,H. and Wanker,E.E.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   7  (bases 1 to 1158)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   8  (bases 1 to 1158)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Behal,A., Touchman,J.W.,
            Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1158)
  AUTHORS   Reymond,A., Friedli,M., Henrichsen,C.N., Chapot,F., Deutsch,S.,
            Ucla,C., Rossier,C., Lyle,R., Guipponi,M. and Antonarakis,S.E.
  TITLE     From PREDs and open reading frames to cDNA isolation: revisiting
            the human chromosome 21 transcription map
  JOURNAL   Genomics 78 (1-2), 46-54 (2001)
   PUBMED   11707072
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB499205.1, DA167160.1, AF151064.1, AI693246.1, AL355586.27 and
            CD673918.1.
            
            On Nov 23, 2018 this sequence version replaced NM_016487.4.
            
            Transcript Variant: This variant (1) differs in the 5' UTR, lacks a
            portion of the 5' coding region and initiates translation at a
            downstream start codon, compared to variant 3. Variants 1 and 2
            encode the same isoform (a), which has a shorter N-terminus
            compared to isoform b.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189667.9177.1,
                                           SRR5189652.47709.1 [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. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000311381.8/
                                                  ENSP00000310951.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 DB499205.1         28-31
            5-45                DA167160.1         1-41
            46-914              AF151064.1         29-897
            915-1020            AI693246.1         116-221             c
            1021-1050           AL355586.27        60389-60418
            1051-1158           CD673918.1         16-123              c
FEATURES             Location/Qualifiers
     source          1..1158
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     gene            1..1158
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
                     /note="mitochondrial transcription rescue factor 1"
                     /db_xref="GeneID:51250"
                     /db_xref="HGNC:HGNC:17971"
                     /db_xref="MIM:618583"
     exon            1..73
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
                     /inference="alignment:Splign:2.1.0"
     exon            74..555
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..808
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
                     /note="isoform a is encoded by transcript variant 1;
                     uncharacterized protein C6orf203"
                     /codon_start=1
                     /product="mitochondrial transcription rescue factor 1
                     isoform a"
                     /protein_id="NP_057571.1"
                     /db_xref="CCDS:CCDS5058.1"
                     /db_xref="GeneID:51250"
                     /db_xref="HGNC:HGNC:17971"
                     /db_xref="MIM:618583"
                     /translation="MAMASVKLLAGVLRKPDAWIGLWGVLRGTPSSYKLCTSWNRYLY
                     FSSTKLRAPNYKTLFYNIFSLRLPGLLLSPECIFPFSVRLKSNIRSTKSTKKSLQKVD
                     EEDSDEESHHDEMSEQEEELEDDPTVVKNYKDLEKAVQSFRYDVVLKTGLDIGRNKVE
                     DAFYKGELRLNEEKLWKKSRTVKVGDTLDLLIGEDKEAGTETVMRILLKKVFEEKTES
                     EKYRVVLRRWKSLKLPKKRMSK"
     exon            556..628
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
                     /inference="alignment:Splign:2.1.0"
     exon            629..1158
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
                     /inference="alignment:Splign:2.1.0"
     regulatory      888..893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
                     /note="hexamer: AATAAA"
     polyA_site      914
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
                     /note="major polyA site"
     regulatory      1109..1114
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
                     /note="hexamer: CATAAA"
     regulatory      1136..1141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
                     /note="hexamer: AATAAA"
     polyA_site      1141
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
     polyA_site      1158
                     /gene="MTRES1"
                     /gene_synonym="C6orf203; HSPC230; PRED31"
ORIGIN      
        1 gcgcagatag gggtagcctg gaggcctgca gtccgcgcgg ccgcggggag ggacgagagg
       61 gcctgacgta cagattataa gcgccatggc tatggctagt gttaaattgc ttgccggtgt
      121 tttaagaaag ccagatgcct ggattggact ctggggtgtt ctccgaggga caccttcatc
      181 atacaaactc tgtacttcct ggaatcgata cttgtatttt tctagtacca agttacgtgc
      241 accaaattat aaaacacttt tttataatat tttctcactg agactcccag ggcttttact
      301 atctccagaa tgtatttttc ctttttccgt aagactcaaa agtaatataa ggtctacaaa
      361 atctactaaa aagtctctgc aaaaagtaga tgaagaggac tctgatgaag aaagccatca
      421 tgatgagatg agtgagcagg aagaggagct tgaggatgat cctactgtag tcaaaaacta
      481 taaagacctg gaaaaagcag ttcagtcttt tcggtatgat gttgtcctga agacggggct
      541 agatattggg agaaacaaag tggaagatgc tttctacaaa ggtgaactca ggctgaatga
      601 ggaaaaatta tggaagaaaa gcagaacggt gaaagtggga gatacattgg atcttctcat
      661 tggagaggat aaagaagcag gaacagagac agttatgcgg attctcttga aaaaagtgtt
      721 tgaagagaag actgaaagtg aaaaatacag agtggtgtta cggcggtgga aaagtttaaa
      781 gttgcctaag aagagaatgt ctaaataaat ggattgcttt ttagcaatag agctgctttc
      841 tagtggtaaa ggaaggggtc acctgaaaaa taggacattt ttattaaaat aaagttctct
      901 tagcgtttgt ggaatctgcc gagccatttt gtggaaattg ggatccatat ctggagacac
      961 ttcccaaggc ctgcctcacc tccaccccct gcccaccttg atccatgctc ctttgacctc
     1021 ctcgtgtgag aacccctttg ccagagtgag acgtgtgcag aatgaactaa gccccagagg
     1081 gttttaatgg cttgcctgct gtttcccaca taaactacct caggagtcac tgtaaaataa
     1141 actggccttg ttgtctta
//
