LOCUS       NM_015950               1216 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), transcript
            variant 1, mRNA.
ACCESSION   NM_015950
VERSION     NM_015950.5
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 1216)
  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 1216)
  AUTHORS   Brown,A., Rathore,S., Kimanius,D., Aibara,S., Bai,X.C., Rorbach,J.,
            Amunts,A. and Ramakrishnan,V.
  TITLE     Structures of the human mitochondrial ribosome in native states of
            assembly
  JOURNAL   Nat Struct Mol Biol 24 (10), 866-869 (2017)
   PUBMED   28892042
REFERENCE   3  (bases 1 to 1216)
  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 1216)
  AUTHORS   Brown,A., Amunts,A., Bai,X.C., Sugimoto,Y., Edwards,P.C.,
            Murshudov,G., Scheres,S.H.W. and Ramakrishnan,V.
  TITLE     Structure of the large ribosomal subunit from human mitochondria
  JOURNAL   Science 346 (6210), 718-722 (2014)
   PUBMED   25278503
REFERENCE   5  (bases 1 to 1216)
  AUTHORS   Baltz,A.G., Munschauer,M., Schwanhausser,B., Vasile,A.,
            Murakawa,Y., Schueler,M., Youngs,N., Penfold-Brown,D., Drew,K.,
            Milek,M., Wyler,E., Bonneau,R., Selbach,M., Dieterich,C. and
            Landthaler,M.
  TITLE     The mRNA-bound proteome and its global occupancy profile on
            protein-coding transcripts
  JOURNAL   Mol Cell 46 (5), 674-690 (2012)
   PUBMED   22681889
REFERENCE   6  (bases 1 to 1216)
  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 1216)
  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 1216)
  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   9  (bases 1 to 1216)
  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   10 (bases 1 to 1216)
  AUTHORS   O'Brien,T.W., Fiesler,S.E., Denslow,N.D., Thiede,B.,
            Wittmann-Liebold,B., Mougey,E.B., Sylvester,J.E. and Graack,H.R.
  TITLE     Mammalian mitochondrial ribosomal proteins (2). Amino acid
            sequencing, characterization, and identification of corresponding
            gene sequences
  JOURNAL   J Biol Chem 274 (51), 36043-36051 (1999)
   PUBMED   10593885
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY043564.1, BC013685.1 and
            AA627551.1.
            
            On Nov 23, 2018 this sequence version replaced NM_015950.4.
            
            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 39S subunit protein that belongs to
            the EcoL2 ribosomal protein family. A pseudogene corresponding to
            this gene is found on chromosome 12q. Alternative splicing results
            in multiple transcript variants encoding distinct isoforms.
            [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: AF132956.1, BC013685.1 [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                 :: ENST00000388752.8/
                                                  ENSP00000373404.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-44                HY043564.1         112-155
            45-1006             BC013685.1         1-962
            1007-1216           AA627551.1         7-216               c
FEATURES             Location/Qualifiers
     source          1..1216
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..1216
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /note="mitochondrial ribosomal protein L2"
                     /db_xref="GeneID:51069"
                     /db_xref="HGNC:HGNC:14056"
                     /db_xref="MIM:611822"
     exon            1..149
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..971
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /note="isoform 1 is encoded by transcript variant 1; 39S
                     ribosomal protein L2, mitochondrial; L2mt; MRP-L2;
                     mitochondrial large ribosomal subunit protein uL2m"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL2m isoform 1"
                     /protein_id="NP_057034.2"
                     /db_xref="CCDS:CCDS34454.1"
                     /db_xref="GeneID:51069"
                     /db_xref="HGNC:HGNC:14056"
                     /db_xref="MIM:611822"
                     /translation="MALCALTRALRSLNLAPPTVAAPAPSLFPAAQMMNNGLLQQPSA
                     LMLLPCRPVLTSVALNANFVSWKSRTKYTITPVKMRKSGGRDHTGRIRVHGIGGGHKQ
                     RYRMIDFLRFRPEETKSGPFEEKVIQVRYDPCRSADIALVAGGSRKRWIIATENMQAG
                     DTILNSNHIGRMAVAAREGDAHPLGALPVGTLINNVESEPGRGAQYIRAAGTCGVLLR
                     KVNGTAIIQLPSKRQMQVLETCVATVGRVSNVDHNKRVIGKAGRNRWLGKRPNSGRWH
                     RKGGWAGRKIRPLPPMKSYVKLPSASAQS"
     exon            150..318
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /inference="alignment:Splign:2.1.0"
     exon            319..457
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /inference="alignment:Splign:2.1.0"
     exon            458..573
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /inference="alignment:Splign:2.1.0"
     exon            574..684
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /inference="alignment:Splign:2.1.0"
     exon            685..758
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /inference="alignment:Splign:2.1.0"
     exon            759..1216
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /inference="alignment:Splign:2.1.0"
     regulatory      986..991
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /note="hexamer: AATAAA"
     polyA_site      1013
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /note="major polyA site"
     regulatory      1197..1202
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
                     /note="hexamer: AATAAA"
     polyA_site      1216
                     /gene="MRPL2"
                     /gene_synonym="CGI-22; MRP-L14; RPML14; uL2m"
ORIGIN      
        1 aacgtcatct aggagcaccg agcagcttgg ctaaaagtaa gggtgtcgtg ctgatggccc
       61 tgtgcgcact gacccgcgct ctgcgctctc tgaacctggc gcccccgacc gtcgccgccc
      121 ctgccccgag tctgttcccc gccgcccaga tgatgaacaa tggcctcctc caacagccct
      181 ctgccttgat gttgctcccc tgccgcccag ttcttacttc tgtggccctt aatgccaact
      241 ttgtgtcctg gaagagtcgt accaagtaca ccattacacc agtgaagatg aggaagtctg
      301 ggggccgaga ccacacaggc cgaatccggg tgcatggtat tggcgggggc cacaagcaac
      361 gttatcgaat gattgacttt ctgcgtttcc ggcctgagga gaccaagtca ggaccctttg
      421 aggagaaggt tatccaagtc cgctatgatc cctgtaggtc agcagacata gctctggttg
      481 ctgggggcag ccggaaacgc tggatcatcg ccacagaaaa catgcaggct ggagatacaa
      541 tcttgaactc taaccacata ggccgaatgg cagttgctgc tcgggaaggg gatgcgcatc
      601 ctcttggggc tctgcctgtg gggaccctca tcaacaacgt ggaaagtgag ccaggccggg
      661 gtgcccaata tatccgagct gcagggacgt gtggtgtgct actgcggaag gtgaatggca
      721 cagccattat ccagctgccc tctaagaggc agatgcaggt gctggaaacg tgcgtagcaa
      781 cagtaggccg agtatccaac gttgatcata acaaacgggt cattggcaag gcaggtcgca
      841 accgctggct gggcaagagg cctaacagtg ggcggtggca ccgcaagggg ggctgggctg
      901 gccgaaagat tcggccacta ccccccatga agagttacgt gaagctgcct tctgcttctg
      961 cccaaagctg atatccctgt actctaataa aatgcccccc ccccccgttt taatctgtta
     1021 ctgtggtttt gttttgggtg ttttttgttt tttttgttgt tgtttttttt ttgcggggga
     1081 ggggatggta cagactaaac gtggggaaaa gaagtaaaaa gtgtggaaga gaaagtacag
     1141 gacactgggt ctgtccccac cccaattccc ttacaagtaa tggagccggg gatggaaata
     1201 aatgacgtcc aaggtc
//
