LOCUS       NM_053050                496 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L53 (MRPL53), mRNA.
ACCESSION   NM_053050
VERSION     NM_053050.5
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 496)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 496)
  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   3  (bases 1 to 496)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 496)
  AUTHORS   Masotti,C., Brito,L.A., Nica,A.C., Ludwig,K.U., Nunes,K.,
            Savastano,C.P., Malcher,C., Ferreira,S.G., Kobayashi,G.S.,
            Bueno,D.F., Alonso,N., Franco,D., Rojas-Martinez,A., Dos
            Santos,S.E., Galante,P.A., Meyer,D., Hunemeier,T., Mangold,E.,
            Dermitzakis,E.T. and Passos-Bueno,M.R.
  TITLE     MRPL53, a New Candidate Gene for Orofacial Clefting, Identified
            Using an eQTL Approach
  JOURNAL   J Dent Res 97 (1), 33-40 (2018)
   PUBMED   29053389
  REMARK    GeneRIF: candidate gene for orofacial clefting
REFERENCE   5  (bases 1 to 496)
  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   6  (bases 1 to 496)
  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   7  (bases 1 to 496)
  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   8  (bases 1 to 496)
  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 496)
  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
REFERENCE   10 (bases 1 to 496)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ014848.1 and BC012163.1.
            
            On Nov 23, 2018 this sequence version replaced NM_053050.4.
            
            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. A pseudogene
            corresponding to this gene is found on chromosome 1p. [provided by
            RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BP205925.1, ERR279839.1681.1
                                           [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                 :: ENST00000258105.8/
                                                  ENSP00000258105.7
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                BQ014848.1         497-510             c
            15-496              BC012163.1         1-482
FEATURES             Location/Qualifiers
     source          1..496
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     gene            1..496
                     /gene="MRPL53"
                     /gene_synonym="L53MT; mL53"
                     /note="mitochondrial ribosomal protein L53"
                     /db_xref="GeneID:116540"
                     /db_xref="HGNC:HGNC:16684"
                     /db_xref="MIM:611857"
     exon            1..112
                     /gene="MRPL53"
                     /gene_synonym="L53MT; mL53"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..359
                     /gene="MRPL53"
                     /gene_synonym="L53MT; mL53"
                     /note="39S ribosomal protein L53, mitochondrial;
                     mitochondrial large ribosomal subunit protein mL53"
                     /codon_start=1
                     /product="large ribosomal subunit protein mL53"
                     /protein_id="NP_444278.1"
                     /db_xref="CCDS:CCDS1944.1"
                     /db_xref="GeneID:116540"
                     /db_xref="HGNC:HGNC:16684"
                     /db_xref="MIM:611857"
                     /translation="MAAALARLGLRPVKQVRVQFCPFEKNVESTRTFLQTVSSEKVRS
                     TNLNCSVIADVRHDGSEPCVDVLFGDGHRLIMRGAHLTALEMLTAFASHIRARDAAGS
                     GDKPGADTGR"
     exon            113..225
                     /gene="MRPL53"
                     /gene_synonym="L53MT; mL53"
                     /inference="alignment:Splign:2.1.0"
     exon            226..496
                     /gene="MRPL53"
                     /gene_synonym="L53MT; mL53"
                     /inference="alignment:Splign:2.1.0"
     regulatory      469..474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL53"
                     /gene_synonym="L53MT; mL53"
                     /note="hexamer: AATAAA"
     polyA_site      496
                     /gene="MRPL53"
                     /gene_synonym="L53MT; mL53"
                     /note="major polyA site"
ORIGIN      
        1 cttccggggc ggaggtcacc atggcagctg ccttggctcg gcttggtctg cggcctgtca
       61 aacaggttcg ggttcagttc tgtcccttcg agaaaaacgt ggaatcgacg aggaccttcc
      121 tgcagacggt gagcagtgag aaggtccgct ccactaatct caactgctca gtgattgcgg
      181 acgtgaggca tgacggctcc gagccctgcg tggacgtgct gttcggagac gggcatcgcc
      241 tgattatgcg cggcgctcat ctcaccgctc tggaaatgct caccgccttc gcctcccaca
      301 tccgggccag ggacgcggcg ggcagcgggg acaagccggg cgctgatact ggtcgctgac
      361 agcgccaaag agaccaacaa gatgatttta gcgtggacta ggacacttaa cctaagaaga
      421 gtttcactta atcattcaaa tcactatctg aagggtcacg gagcgcaaaa taaagtttaa
      481 aaccctgcta ccacaa
//
