LOCUS       NM_016034               1458 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), transcript
            variant 1, mRNA.
ACCESSION   NM_016034
VERSION     NM_016034.5
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 1458)
  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 1458)
  AUTHORS   Gardeitchik,T., Mohamed,M., Ruzzenente,B., Karall,D.,
            Guerrero-Castillo,S., Dalloyaux,D., van den Brand,M., van
            Kraaij,S., van Asbeck,E., Assouline,Z., Rio,M., de Lonlay,P.,
            Scholl-Buergi,S., Wolthuis,D.F.G.J., Hoischen,A., Rodenburg,R.J.,
            Sperl,W., Urban,Z., Brandt,U., Mayr,J.A., Wong,S., de
            Brouwer,A.P.M., Nijtmans,L., Munnich,A., Rotig,A., Wevers,R.A.,
            Metodiev,M.D. and Morava,E.
  TITLE     Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2
            Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS
            Complex Deficiencies
  JOURNAL   Am J Hum Genet 102 (4), 685-695 (2018)
   PUBMED   29576219
  REMARK    GeneRIF: The identification of MRPS2 as an additional gene related
            to mitochondrial disease further expands the genetic and phenotypic
            spectra of Oxidative phosphorylation deficiencies caused by
            impaired mitochondrial translation.
REFERENCE   3  (bases 1 to 1458)
  AUTHORS   Greber,B.J. and Ban,N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   4  (bases 1 to 1458)
  AUTHORS   Amunts,A., Brown,A., Toots,J., Scheres,S.H.W. and Ramakrishnan,V.
  TITLE     Ribosome. The structure of the human mitochondrial ribosome
  JOURNAL   Science 348 (6230), 95-98 (2015)
   PUBMED   25838379
REFERENCE   5  (bases 1 to 1458)
  AUTHORS   Orvedahl,A., Sumpter,R. Jr., Xiao,G., Ng,A., Zou,Z., Tang,Y.,
            Narimatsu,M., Gilpin,C., Sun,Q., Roth,M., Forst,C.V., Wrana,J.L.,
            Zhang,Y.E., Luby-Phelps,K., Xavier,R.J., Xie,Y. and Levine,B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   6  (bases 1 to 1458)
  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   7  (bases 1 to 1458)
  AUTHORS   Zhang,Z. and Gerstein,M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   8  (bases 1 to 1458)
  AUTHORS   Kenmochi,N., Suzuki,T., Uechi,T., Magoori,M., Kuniba,M., Higa,S.,
            Watanabe,K. and Tanaka,T.
  TITLE     The human mitochondrial ribosomal protein genes: mapping of 54
            genes to the chromosomes and implications for human disorders
  JOURNAL   Genomics 77 (1-2), 65-70 (2001)
   PUBMED   11543634
REFERENCE   9  (bases 1 to 1458)
  AUTHORS   Suzuki,T., Terasaki,M., Takemoto-Hori,C., Hanada,T., Ueda,T.,
            Wada,A. and Watanabe,K.
  TITLE     Proteomic analysis of the mammalian mitochondrial ribosome.
            Identification of protein components in the 28 S small subunit
  JOURNAL   J Biol Chem 276 (35), 33181-33195 (2001)
   PUBMED   11402041
REFERENCE   10 (bases 1 to 1458)
  AUTHORS   Cavdar Koc,E., Burkhart,W., Blackburn,K., Moseley,A. and
            Spremulli,L.L.
  TITLE     The small subunit of the mammalian mitochondrial ribosome.
            Identification of the full complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (22), 19363-19374 (2001)
   PUBMED   11279123
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX362434.2 and BQ065672.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_016034.4.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a
            small 28S subunit and a large 39S subunit. They have an estimated
            75% protein to rRNA composition compared to prokaryotic ribosomes,
            where this ratio is reversed. Another difference between mammalian
            mitoribosomes and prokaryotic ribosomes is that the latter contain
            a 5S rRNA. Among different species, the proteins comprising the
            mitoribosome differ greatly in sequence, and sometimes in
            biochemical properties, which prevents easy recognition by sequence
            homology. This gene encodes a 28S subunit protein that belongs to
            the ribosomal protein S2 family. Alternatively spliced transcript
            variants have been observed for this gene. [provided by RefSeq, May
            2012].
            
            Sequence Note: A downstream translational start codon is selected
            for this RefSeq based on its better conservation in mammalian
            species, a strong Kozak signal and on the presence of a predicted
            mitochondrial targeting sequence in the protein N-terminus. An
            upstream in-frame start codon is also present but has a weaker
            Kozak signal and is poorly conserved, and use of the upstream start
            codon would result in a protein that is 23 aa longer at the
            N-terminus and lacks a predicted mitochondrial targeting sequence.
            Leaky scanning by ribosomes may allow translation initiation at the
            downstream start codon.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.317210.1,
                                           SRR3476690.962129.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000241600.10/
                                                  ENSP00000241600.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-808               BX362434.2         46-853
            809-1458            BQ065672.1         31-680              c
FEATURES             Location/Qualifiers
     source          1..1458
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..1458
                     /gene="MRPS2"
                     /gene_synonym="CGI-91; COXPD36; MRP-S2; S2mt; uS2m"
                     /note="mitochondrial ribosomal protein S2"
                     /db_xref="GeneID:51116"
                     /db_xref="HGNC:HGNC:14495"
                     /db_xref="MIM:611971"
     exon            1..72
                     /gene="MRPS2"
                     /gene_synonym="CGI-91; COXPD36; MRP-S2; S2mt; uS2m"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..920
                     /gene="MRPS2"
                     /gene_synonym="CGI-91; COXPD36; MRP-S2; S2mt; uS2m"
                     /note="28S ribosomal protein S2, mitochondrial;
                     mitochondrial small ribosomal subunit protein uS2m"
                     /codon_start=1
                     /product="small ribosomal subunit protein uS2m"
                     /protein_id="NP_057118.1"
                     /db_xref="CCDS:CCDS6990.1"
                     /db_xref="GeneID:51116"
                     /db_xref="HGNC:HGNC:14495"
                     /db_xref="MIM:611971"
                     /translation="MATSSAALPRILGAGARAPSRWLGFLGKATPRPARPSRRTLGSA
                     TALMIRESEDSTDFNDKILNEPLKHSDFFNVKELFSVRSLFDARVHLGHKAGCRHRFM
                     EPYIFGSRLDHDIIDLEQTATHLQLALNFTAHMAYRKGIILFISRNRQFSYLIENMAR
                     DCGEYAHTRYFRGGMLTNARLLFGPTVRLPDLIIFLHTLNNIFEPHVAVRDAAKMNIP
                     TVGIVDTNCNPCLITYPVPGNDDSPLAVHLYCRLFQTAITRAKEKRQQVEALYRLQGQ
                     KEPGDQGPAHPPGADMSHSL"
     exon            73..198
                     /gene="MRPS2"
                     /gene_synonym="CGI-91; COXPD36; MRP-S2; S2mt; uS2m"
                     /inference="alignment:Splign:2.1.0"
     exon            199..328
                     /gene="MRPS2"
                     /gene_synonym="CGI-91; COXPD36; MRP-S2; S2mt; uS2m"
                     /inference="alignment:Splign:2.1.0"
     exon            329..1458
                     /gene="MRPS2"
                     /gene_synonym="CGI-91; COXPD36; MRP-S2; S2mt; uS2m"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1432..1437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS2"
                     /gene_synonym="CGI-91; COXPD36; MRP-S2; S2mt; uS2m"
                     /note="hexamer: AATAAA"
     polyA_site      1458
                     /gene="MRPS2"
                     /gene_synonym="CGI-91; COXPD36; MRP-S2; S2mt; uS2m"
                     /note="major polyA site"
ORIGIN      
        1 gagacctcgc tctgccccgc gtcccagcca tggcgacatc ctcggccgcg ctgccccgaa
       61 tactcggcgc gggtgcccgg gccccgtcgc gctggttggg ctttctcggg aaggcgaccc
      121 cccggcctgc tcggccgagc cgcaggacgc ttggaagcgc gacggccctt atgatccgcg
      181 agtcggagga cagcaccgat ttcaacgaca agattttgaa tgagcccctc aagcactctg
      241 acttcttcaa tgtcaaggaa ctgttttccg tgagaagcct cttcgatgcc cgagtccatc
      301 tgggacacaa agctggctgt cggcacaggt ttatggagcc gtacatcttt gggagccgcc
      361 tggaccacga catcatcgac ctggaacaga cagccacgca cctccagctg gccttgaact
      421 tcaccgccca catggcctac cgcaagggca tcatcttgtt tataagccgc aaccggcagt
      481 tctcgtacct gattgagaac atggcccgtg actgtggcga gtacgcccac actcgctact
      541 tcaggggcgg catgctgacc aacgcgcgcc tcctctttgg ccccacggtc cgcctgccgg
      601 acctcatcat cttcctgcac acgctcaaca acatctttga gccacacgtg gccgtgagag
      661 acgcagccaa gatgaacatc cccacagtgg gcatcgtgga caccaactgc aacccctgcc
      721 tcatcaccta ccctgtaccc ggcaatgacg actctccgct ggctgtgcac ctctactgca
      781 ggctcttcca gacggccatc acccgggcca aggagaagcg gcagcaggtt gaggctctct
      841 atcgcctgca gggccagaag gagcccgggg accaggggcc agcccaccct cctggggctg
      901 acatgagcca ttccctgtga tgttcactct cctcccaaag caaaccacag ccaagcctgt
      961 ctgagctggg agtccccttc cccagccctg ggtcagcggc atcctcagtc gttgttactt
     1021 actcagctga tgtcacagtg cagacatcca ccgttccacc acagaaccag tggctgagcg
     1081 gaccaacgtt gccatgtgcg tttgctctgt ggggaacaga gcacagaggg tgagcgacat
     1141 gtgcagaacg gccccttggc tgcagttagg acctcagtgg ctggtatggc caagctgcta
     1201 gaagatgctg ctgtccctgt gatcccagca gccctccctt caccgtgacc cctgaccttt
     1261 gtcaggaagg tgcagttttt cttctcaatc taaatgcctt tcaggtgggc cgcttccttg
     1321 gctacctggt tccagggggc tgttttgtaa tgagatgctg ctggcaggcc actcagaggc
     1381 tcccagctgg gttggtggga cagccaggcc agatgacctg attccagcaa aaataaaact
     1441 cagatttggg caaaatga
//
