LOCUS       NM_015956               1218 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), transcript
            variant 1, mRNA.
ACCESSION   NM_015956
VERSION     NM_015956.3
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 1218)
  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 1218)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 1218)
  AUTHORS   Rathore,A., Chu,Q., Tan,D., Martinez,T.F., Donaldson,C.J.,
            Diedrich,J.K., Yates,J.R. 3rd and Saghatelian,A.
  TITLE     MIEF1 Microprotein Regulates Mitochondrial Translation
  JOURNAL   Biochemistry 57 (38), 5564-5575 (2018)
   PUBMED   30215512
REFERENCE   4  (bases 1 to 1218)
  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 1218)
  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 1218)
  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 1218)
  AUTHORS   Hosgood,H.D. 3rd, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R.,
            Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S.,
            Smith,M. and Lan,Q.
  TITLE     Association between genetic variants in VEGF, ERCC3 and
            occupational benzene haematotoxicity
  JOURNAL   Occup Environ Med 66 (12), 848-853 (2009)
   PUBMED   19773279
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1218)
  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 1218)
  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 1218)
  AUTHORS   Suzuki,T., Terasaki,M., Takemoto-Hori,C., Hanada,T., Ueda,T.,
            Wada,A. and Watanabe,K.
  TITLE     Structural compensation for the deficit of rRNA with proteins in
            the mammalian mitochondrial ribosome. Systematic analysis of
            protein components of the large ribosomal subunit from mammalian
            mitochondria
  JOURNAL   J Biol Chem 276 (24), 21724-21736 (2001)
   PUBMED   11279069
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG325905.1, BC009858.2 and
            AC011511.12.
            
            On May 17, 2019 this sequence version replaced NM_015956.2.
            
            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. Sequence
            analysis identified alternatively spliced variants that encode
            different protein isoforms. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) is the predominant transcript
            and it encodes the same isoform (a) as variant 2.
            
            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 :: SRR3476690.633180.1,
                                           SRR1163655.419345.1 [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                 :: ENST00000253099.11/
                                                  ENSP00000253099.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BG325905.1         252-260
            10-1208             BC009858.2         1-1199
            1209-1218           AC011511.12        74689-74698
FEATURES             Location/Qualifiers
     source          1..1218
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..1218
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /note="mitochondrial ribosomal protein L4"
                     /db_xref="GeneID:51073"
                     /db_xref="HGNC:HGNC:14276"
                     /db_xref="MIM:611823"
     exon            1..97
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..976
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /EC_number="3.6.5.3"
                     /note="isoform a is encoded by transcript variant 1; 39S
                     ribosomal protein L4, mitochondrial; MRP-L4; mitochondrial
                     large ribosomal subunit protein uL4m"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL4m isoform a"
                     /protein_id="NP_057040.2"
                     /db_xref="CCDS:CCDS12230.1"
                     /db_xref="GeneID:51073"
                     /db_xref="HGNC:HGNC:14276"
                     /db_xref="MIM:611823"
                     /translation="MLQFVRAGARAWLRPTGSQGLSSLAEEAARATENPEQVASEGLP
                     EPVLRKVELPVPTHRRPVQAWVESLRGFEQERVGLADLHPDVFATAPRLDILHQVAMW
                     QKNFKRISYAKTKTRAEVRGGGRKPWPQKGTGRARHGSIRSPLWRGGGVAHGPRGPTS
                     YYYMLPMKVRALGLKVALTVKLAQDDLHIMDSLELPTGDPQYLTELAHYRRWGDSVLL
                     VDLTHEEMPQSIVEATSRLKTFNLIPAVGLNVHSMLKHQTLVLTLPTVAFLEDKLLWQ
                     DSRYRPLYPFSLPYSDFPRPLPHATQGPAATPYHC"
     exon            98..164
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /inference="alignment:Splign:2.1.0"
     exon            165..315
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /inference="alignment:Splign:2.1.0"
     exon            316..367
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /inference="alignment:Splign:2.1.0"
     exon            368..485
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /inference="alignment:Splign:2.1.0"
     exon            486..592
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /inference="alignment:Splign:2.1.0"
     exon            593..702
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /inference="alignment:Splign:2.1.0"
     exon            703..779
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /inference="alignment:Splign:2.1.0"
     exon            780..1218
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1186..1191
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /note="hexamer: AATAAA"
     polyA_site      1218
                     /gene="MRPL4"
                     /gene_synonym="CGI-28; L4mt; uL4m"
                     /note="major polyA site"
ORIGIN      
        1 agtggccttg acctcccgcg gcgtgggagg ctgcgcggcg atgctgcagt tcgtccgggc
       61 cggggcgcgg gcctggcttc ggcctaccgg cagccagggc ctgagttccc tggcggaaga
      121 ggcagcgcgt gcgaccgaga acccggagca ggtggcgagc gagggtctcc cggagcccgt
      181 gctgcgcaaa gtcgagctcc cggtacccac tcatcgacgc ccagtgcagg cctgggtcga
      241 gtccttgcgg ggcttcgagc aggagcgcgt gggcctggcc gacctgcacc ccgatgtttt
      301 cgccaccgcg cccaggctgg acatactgca ccaggttgct atgtggcaga agaacttcaa
      361 gagaattagc tatgccaaga ccaagacgag agccgaggtg cggggcggtg gccggaagcc
      421 ttggccgcag aaaggcactg ggcgggcccg gcatggcagc atccgctctc cgctctggcg
      481 aggaggaggt gttgcccatg gcccccgggg ccccacaagt tactactaca tgctgcccat
      541 gaaggtgcgg gcgctgggtc tcaaagtggc actgaccgtc aagctggccc aggacgacct
      601 gcacatcatg gactccctag agctgcccac cggagaccca cagtacctga cagagctggc
      661 gcactaccgc cgctgggggg actccgtact cctcgtggac ttaacacacg aggagatgcc
      721 acagagcatc gtggaggcca cctctaggct taagaccttc aacttgatcc cggctgttgg
      781 cctaaatgtg cacagcatgc tcaagcacca gacgctggtc ctgacgctgc ccaccgtcgc
      841 cttcctggag gacaagctgc tctggcagga ctcacgttac agacccctct accccttcag
      901 cctgccctac agcgacttcc cccgacccct accccacgct acccagggcc cagcggccac
      961 cccgtaccac tgttgatgtg aagcacctct tctgagccag gccgagcccc tggccgactt
     1021 gggagcctca ggcccacgcc cacccttcga ggaaggtgtc acctggaccc cttcattcca
     1081 cggaggaagc tgaggccaca gggagcggcc atcgccattg ggaaggggcg actccacgga
     1141 aagcccagac gggcttctgc atccattccc tctttttgtt tttaaaataa attgtatttt
     1201 tgaatcaagg aggataaa
//
