LOCUS       NM_020409               1354 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L47 (MRPL47),
            transcript variant 1, mRNA.
ACCESSION   NM_020409
VERSION     NM_020409.3
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 1354)
  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 1354)
  AUTHORS   Fasci,D., van Ingen,H., Scheltema,R.A. and Heck,A.J.R.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   3  (bases 1 to 1354)
  AUTHORS   Liu,X., Salokas,K., Tamene,F., Jiu,Y., Weldatsadik,R.G., Ohman,T.
            and Varjosalo,M.
  TITLE     An AP-MS- and BioID-compatible MAC-tag enables comprehensive
            mapping of protein interactions and subcellular localizations
  JOURNAL   Nat Commun 9 (1), 1188 (2018)
   PUBMED   29568061
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1354)
  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   5  (bases 1 to 1354)
  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   6  (bases 1 to 1354)
  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   7  (bases 1 to 1354)
  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   8  (bases 1 to 1354)
  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 1354)
  AUTHORS   O'Brien,T.W.
  TITLE     Evolution of a protein-rich mitochondrial ribosome: implications
            for human genetic disease
  JOURNAL   Gene 286 (1), 73-79 (2002)
   PUBMED   11943462
REFERENCE   10 (bases 1 to 1354)
  AUTHORS   Koc,E.C., Burkhart,W., Blackburn,K., Moyer,M.B., Schlatzer,D.M.,
            Moseley,A. and Spremulli,L.L.
  TITLE     The large subunit of the mammalian mitochondrial ribosome. Analysis
            of the complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (47), 43958-43969 (2001)
   PUBMED   11551941
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC021575.1, AY212270.1,
            BC032522.1 and AC090425.15.
            
            On May 17, 2019 this sequence version replaced NM_020409.2.
            
            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. This gene is
            immediately adjacent to the gene for BAF complex 53 kDa subunit
            protein a (BAF53a), in a tail-to-tail orientation. Two transcript
            variants encoding different protein isoforms have been identified.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) is the predominant transcript
            and it encodes isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.368775.1,
                                           SRR3476690.218647.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000476781.6/
                                                  ENSP00000417602.1
            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
            1-112               BC021575.1         9-120
            113-808             AY212270.1         98-793
            809-1174            BC032522.1         750-1115
            1175-1354           AC090425.15        54948-55127
FEATURES             Location/Qualifiers
     source          1..1354
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     gene            1..1354
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /note="mitochondrial ribosomal protein L47"
                     /db_xref="GeneID:57129"
                     /db_xref="HGNC:HGNC:16652"
                     /db_xref="MIM:611852"
     exon            1..112
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..767
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /note="isoform a is encoded by transcript variant 1; 39S
                     ribosomal protein L47, mitochondrial; nasopharyngeal
                     carcinoma metastasis-related 1; nasopharyngeal carcinoma
                     metastasis-related protein 1; mitochondrial large
                     ribosomal subunit protein uL29m"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL29m isoform a"
                     /protein_id="NP_065142.2"
                     /db_xref="CCDS:CCDS3232.1"
                     /db_xref="GeneID:57129"
                     /db_xref="HGNC:HGNC:16652"
                     /db_xref="MIM:611852"
                     /translation="MAAAGLALLCRRVSSALKSSRSLITPQVPACTGFFLSLLPKSTP
                     NVTSFHQYRLLHTTLSRKGLEEFFDDPKNWGQEKVKSGAAWTCQQLRNKSNEDLHKLW
                     YVLLKERNMLLTLEQEAKRQRLPMPSPERLDKVVDSMDALDKVVQEREDALRLLQTGQ
                     ERARPGAWRRDIFGRIIWHKFKQWVIPWHLNKRYNRKRFFALPYVDHFLRLEREKRAR
                     IKARKENLERKKAKILLKKFPHLAEAQKSSLV"
     exon            113..258
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /inference="alignment:Splign:2.1.0"
     exon            259..319
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /inference="alignment:Splign:2.1.0"
     exon            320..416
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /inference="alignment:Splign:2.1.0"
     exon            417..547
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /inference="alignment:Splign:2.1.0"
     exon            548..643
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /inference="alignment:Splign:2.1.0"
     exon            644..1354
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /inference="alignment:Splign:2.1.0"
     regulatory      780..785
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /note="hexamer: ATTAAA"
     polyA_site      808
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /note="major polyA site"
     regulatory      824..829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /note="hexamer: AGTAAA"
     polyA_site      853
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
     regulatory      1149..1154
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /note="hexamer: AATAAA"
     polyA_site      1174
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
     regulatory      1310..1315
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
                     /note="hexamer: AATAAA"
     polyA_site      1330
                     /gene="MRPL47"
                     /gene_synonym="CGI-204; L47mt; MRP-L47; NCM1; uL29m"
ORIGIN      
        1 agttatgcga aaacatggct gcggccggtt tggcccttct ttgtaggaga gtttcatccg
       61 ccctgaaatc ttcccgatcg ttaataactc ctcaggtccc tgcctgcaca gggttttttc
      121 ttagtttgtt gcctaagagt acaccaaatg tgacatcctt tcaccaatat agattacttc
      181 ataccacatt gtcaaggaaa ggactagaag aattttttga tgacccaaaa aactgggggc
      241 aagaaaaagt aaaatctgga gcagcatgga cctgtcagca actaaggaac aaaagtaatg
      301 aagatttaca caaactttgg tatgtcttac tgaaagaaag aaacatgctt ctaaccctag
      361 agcaggaggc caagcggcag agattgccaa tgccaagtcc agagcggtta gataaggtag
      421 tagattccat ggatgcatta gataaagttg tccaggaaag agaagatgcc ctaaggcttc
      481 ttcagactgg tcaagaaaga gctagacctg gtgcttggag aagagacatc tttggaagaa
      541 tcatctggca caagttcaag cagtgggtta taccttggca cctaaataaa agatacaata
      601 ggaaacgatt ctttgccttg ccttatgtgg accattttct cagactggaa cgtgagaaac
      661 gagcccgcat caaagcacgg aaggaaaatt tagagagaaa gaaagcaaaa attcttttaa
      721 aaaagtttcc acatcttgct gaagcccaaa agtcaagtct tgtctaagat gtctgaacta
      781 ttaaatttac cattttgttt ttcttgaata gtctgtgtac aggagtaaat atgttaagtg
      841 gtttataaag aaattctgtt tttagtcaag tgactttact aatcagttgt tctaagtgtg
      901 aatatggcat gctaattagc taatttggta gaagctaatt tgcttctaaa aatcaggtat
      961 aaagttcaga tgagattccc actttataaa ttctgacatt taagcaggct ttaaatgtca
     1021 cctgctacct tagagtgtga aggtgatggt aactgccaca gcaaaggcaa taccgtagtt
     1081 tttgaatttg aataatagtt ttacctctgt tgttaatagg ctatgaagag gatgtgggta
     1141 ttgctgttaa taaacggagg actttgattc aaaataatga gaaatacatt tagtccttaa
     1201 agtagtaatc acagtgcaca acagtccaaa atatatttct ggaatggcta atttttattt
     1261 aattctgtaa gcctaaggta aaaagcatag gcagtaactt ttactagtca ataaaaagca
     1321 gttctaccaa tccactggta attaatacac taaa
//
