LOCUS       NM_004891                508 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L33 (MRPL33),
            transcript variant 1, mRNA.
ACCESSION   NM_004891
VERSION     NM_004891.4
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 508)
  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 508)
  AUTHORS   Li,J., Feng,D., Gao,C., Zhang,Y., Xu,J., Wu,M. and Zhan,X.
  TITLE     Isoforms S and L of MRPL33 from alternative splicing have
            isoform-specific roles in the chemoresponse to epirubicin in
            gastric cancer cells via the PI3K/AKT signaling pathway
  JOURNAL   Int J Oncol 54 (5), 1591-1600 (2019)
   PUBMED   30816492
  REMARK    GeneRIF: Study revealed that isoforms S and L of MRPL33, which
            arise from alternative splicing, exhibited opposing roles in the
            chemoresponse to epirubicin in gastric cancer via the PI3K/AKT
            signaling pathway.
REFERENCE   3  (bases 1 to 508)
  AUTHORS   Liu,L., Luo,C., Luo,Y., Chen,L., Liu,Y., Wang,Y., Han,J., Zhang,Y.,
            Wei,N., Xie,Z., Wu,W., Wu,G. and Feng,Y.
  TITLE     MRPL33 and its splicing regulator hnRNPK are required for
            mitochondria function and implicated in tumor progression
  JOURNAL   Oncogene 37 (1), 86-94 (2018)
   PUBMED   28869607
  REMARK    GeneRIF: Study findings underscore the biological significance of
            MRPL33-L and hnRNPK in the tumor formation and identifies hnRNPK as
            a critical splicing regulator of MRPL33 pre-mRNA in cancer cells.
REFERENCE   4  (bases 1 to 508)
  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 508)
  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 508)
  AUTHORS   Manning,A.K., Hivert,M.F., Scott,R.A., Grimsby,J.L.,
            Bouatia-Naji,N., Chen,H., Rybin,D., Liu,C.T., Bielak,L.F.,
            Prokopenko,I., Amin,N., Barnes,D., Cadby,G., Hottenga,J.J.,
            Ingelsson,E., Jackson,A.U., Johnson,T., Kanoni,S., Ladenvall,C.,
            Lagou,V., Lahti,J., Lecoeur,C., Liu,Y., Martinez-Larrad,M.T.,
            Montasser,M.E., Navarro,P., Perry,J.R., Rasmussen-Torvik,L.J.,
            Salo,P., Sattar,N., Shungin,D., Strawbridge,R.J., Tanaka,T., van
            Duijn,C.M., An,P., de Andrade,M., Andrews,J.S., Aspelund,T.,
            Atalay,M., Aulchenko,Y., Balkau,B., Bandinelli,S., Beckmann,J.S.,
            Beilby,J.P., Bellis,C., Bergman,R.N., Blangero,J., Boban,M.,
            Boehnke,M., Boerwinkle,E., Bonnycastle,L.L., Boomsma,D.I.,
            Borecki,I.B., Bottcher,Y., Bouchard,C., Brunner,E., Budimir,D.,
            Campbell,H., Carlson,O., Chines,P.S., Clarke,R., Collins,F.S.,
            Corbaton-Anchuelo,A., Couper,D., de Faire,U., Dedoussis,G.V.,
            Deloukas,P., Dimitriou,M., Egan,J.M., Eiriksdottir,G., Erdos,M.R.,
            Eriksson,J.G., Eury,E., Ferrucci,L., Ford,I., Forouhi,N.G.,
            Fox,C.S., Franzosi,M.G., Franks,P.W., Frayling,T.M., Froguel,P.,
            Galan,P., de Geus,E., Gigante,B., Glazer,N.L., Goel,A., Groop,L.,
            Gudnason,V., Hallmans,G., Hamsten,A., Hansson,O., Harris,T.B.,
            Hayward,C., Heath,S., Hercberg,S., Hicks,A.A., Hingorani,A.,
            Hofman,A., Hui,J., Hung,J., Jarvelin,M.R., Jhun,M.A., Johnson,P.C.,
            Jukema,J.W., Jula,A., Kao,W.H., Kaprio,J., Kardia,S.L.,
            Keinanen-Kiukaanniemi,S., Kivimaki,M., Kolcic,I., Kovacs,P.,
            Kumari,M., Kuusisto,J., Kyvik,K.O., Laakso,M., Lakka,T.,
            Lannfelt,L., Lathrop,G.M., Launer,L.J., Leander,K., Li,G., Lind,L.,
            Lindstrom,J., Lobbens,S., Loos,R.J., Luan,J., Lyssenko,V., Magi,R.,
            Magnusson,P.K., Marmot,M., Meneton,P., Mohlke,K.L., Mooser,V.,
            Morken,M.A., Miljkovic,I., Narisu,N., O'Connell,J., Ong,K.K.,
            Oostra,B.A., Palmer,L.J., Palotie,A., Pankow,J.S., Peden,J.F.,
            Pedersen,N.L., Pehlic,M., Peltonen,L., Penninx,B., Pericic,M.,
            Perola,M., Perusse,L., Peyser,P.A., Polasek,O., Pramstaller,P.P.,
            Province,M.A., Raikkonen,K., Rauramaa,R., Rehnberg,E., Rice,K.,
            Rotter,J.I., Rudan,I., Ruokonen,A., Saaristo,T., Sabater-Lleal,M.,
            Salomaa,V., Savage,D.B., Saxena,R., Schwarz,P., Seedorf,U.,
            Sennblad,B., Serrano-Rios,M., Shuldiner,A.R., Sijbrands,E.J.,
            Siscovick,D.S., Smit,J.H., Small,K.S., Smith,N.L., Smith,A.V.,
            Stancakova,A., Stirrups,K., Stumvoll,M., Sun,Y.V., Swift,A.J.,
            Tonjes,A., Tuomilehto,J., Trompet,S., Uitterlinden,A.G.,
            Uusitupa,M., Vikstrom,M., Vitart,V., Vohl,M.C., Voight,B.F.,
            Vollenweider,P., Waeber,G., Waterworth,D.M., Watkins,H.,
            Wheeler,E., Widen,E., Wild,S.H., Willems,S.M., Willemsen,G.,
            Wilson,J.F., Witteman,J.C., Wright,A.F., Yaghootkar,H.,
            Zelenika,D., Zemunik,T., Zgaga,L., Wareham,N.J., McCarthy,M.I.,
            Barroso,I., Watanabe,R.M., Florez,J.C., Dupuis,J., Meigs,J.B. and
            Langenberg,C.
  CONSRTM   DIAbetes Genetics Replication And Meta-analysis (DIAGRAM)
            Consortium; Multiple Tissue Human Expression Resource (MUTHER)
            Consortium
  TITLE     A genome-wide approach accounting for body mass index identifies
            genetic variants influencing fasting glycemic traits and insulin
            resistance
  JOURNAL   Nat Genet 44 (6), 659-669 (2012)
   PUBMED   22581228
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 508)
  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 508)
  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 508)
  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 508)
  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 BC090047.1, BC020834.1 and
            AA836397.1.
            
            On Nov 24, 2018 this sequence version replaced NM_004891.3.
            
            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. Alternatively
            spliced transcript variants encoding different isoforms have been
            described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: SRR1163657.571615.1, BI597621.1
                                           [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                 :: ENST00000296102.8/
                                                  ENSP00000296102.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-81                BC090047.1         3-83
            82-507              BC020834.1         71-496
            508-508             AA836397.1         19-19               c
FEATURES             Location/Qualifiers
     source          1..508
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.2"
     gene            1..508
                     /gene="MRPL33"
                     /gene_synonym="bL33m; C2orf1; L33mt; MRP-L33; RPL33L"
                     /note="mitochondrial ribosomal protein L33"
                     /db_xref="GeneID:9553"
                     /db_xref="HGNC:HGNC:14487"
                     /db_xref="MIM:610059"
     exon            1..81
                     /gene="MRPL33"
                     /gene_synonym="bL33m; C2orf1; L33mt; MRP-L33; RPL33L"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..257
                     /gene="MRPL33"
                     /gene_synonym="bL33m; C2orf1; L33mt; MRP-L33; RPL33L"
                     /EC_number="3.6.5.3"
                     /note="isoform a is encoded by transcript variant 1; 39S
                     ribosomal protein L33, mitochondrial; mitochondrial large
                     ribosomal subunit protein bL33m"
                     /codon_start=1
                     /product="large ribosomal subunit protein bL33m isoform a"
                     /protein_id="NP_004882.1"
                     /db_xref="CCDS:CCDS1761.1"
                     /db_xref="GeneID:9553"
                     /db_xref="HGNC:HGNC:14487"
                     /db_xref="MIM:610059"
                     /translation="MFLSAVFFAKSKSKNILVRMVSEAGTGFCFNTKRNRLREKLTLL
                     HYDPVVKQRVLFVEKKKIRSL"
     exon            82..100
                     /gene="MRPL33"
                     /gene_synonym="bL33m; C2orf1; L33mt; MRP-L33; RPL33L"
                     /inference="alignment:Splign:2.1.0"
     exon            101..207
                     /gene="MRPL33"
                     /gene_synonym="bL33m; C2orf1; L33mt; MRP-L33; RPL33L"
                     /inference="alignment:Splign:2.1.0"
     exon            208..508
                     /gene="MRPL33"
                     /gene_synonym="bL33m; C2orf1; L33mt; MRP-L33; RPL33L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      490..495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL33"
                     /gene_synonym="bL33m; C2orf1; L33mt; MRP-L33; RPL33L"
                     /note="hexamer: AATAAA"
     polyA_site      508
                     /gene="MRPL33"
                     /gene_synonym="bL33m; C2orf1; L33mt; MRP-L33; RPL33L"
                     /note="major polyA site"
ORIGIN      
        1 agttgttgtt ggttgggggc cttttggccg gtgacggaga ctgcccaggt gtggtcacca
       61 tgttcctctc cgcggtcttc tttgccaaga gcaagtcaaa aaacattctg gtgagaatgg
      121 tgagcgaagc tgggacaggt ttctgcttca acaccaagag aaaccgactg cgggaaaaac
      181 tgactctttt gcattatgat ccagttgtga aacaaagagt cctcttcgtg gaaaagaaaa
      241 aaatacgctc cctttaaacg gtggattgaa aatgactttg atttataaag agaagactga
      301 gggcggggat actgattcag aaatcctgta gcgtgtaata aaagaagagg aaatggcatg
      361 gaatcactgc ctcctgtgat ttgaaggcca ttgtgaagga aaacaatgca gtgaaagaaa
      421 gttcttcata ttaggacaga tatcattgca tcacatttat ttatctttct gggtattttt
      481 atagccctta ataaaaaata ttaaaata
//
