LOCUS       NM_016640               1648 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), mRNA.
ACCESSION   NM_016640
VERSION     NM_016640.4
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 1648)
  AUTHORS   Shirani,N., Mahdi-Esferizi,R., Eshraghi Samani,R., Tahmasebian,S.
            and Yaghoobi,H.
  TITLE     In silico identification and in vitro evaluation of MRPS30-DT
            lncRNA and MRPS30 gene expression in breast cancer
  JOURNAL   Cancer Rep (Hoboken) 7 (6), e2114 (2024)
   PUBMED   38886335
  REMARK    GeneRIF: In silico identification and in vitro evaluation of
            MRPS30-DT lncRNA and MRPS30 gene expression in breast cancer.
REFERENCE   2  (bases 1 to 1648)
  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 1648)
  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   4  (bases 1 to 1648)
  AUTHORS   Ghoussaini,M., French,J.D., Michailidou,K., Nord,S., Beesley,J.,
            Canisus,S., Hillman,K.M., Kaufmann,S., Sivakumaran,H., Moradi
            Marjaneh,M., Lee,J.S., Dennis,J., Bolla,M.K., Wang,Q., Dicks,E.,
            Milne,R.L., Hopper,J.L., Southey,M.C., Schmidt,M.K., Broeks,A.,
            Muir,K., Lophatananon,A., Fasching,P.A., Beckmann,M.W.,
            Fletcher,O., Johnson,N., Sawyer,E.J., Tomlinson,I., Burwinkel,B.,
            Marme,F., Guenel,P., Truong,T., Bojesen,S.E., Flyger,H.,
            Benitez,J., Gonzalez-Neira,A., Alonso,M.R., Pita,G.,
            Neuhausen,S.L., Anton-Culver,H., Brenner,H., Arndt,V., Meindl,A.,
            Schmutzler,R.K., Brauch,H., Hamann,U., Tessier,D.C., Vincent,D.,
            Nevanlinna,H., Khan,S., Matsuo,K., Ito,H., Dork,T., Bogdanova,N.V.,
            Lindblom,A., Margolin,S., Mannermaa,A., Kosma,V.M., Wu,A.H., Van
            Den Berg,D., Lambrechts,D., Floris,G., Chang-Claude,J., Rudolph,A.,
            Radice,P., Barile,M., Couch,F.J., Hallberg,E., Giles,G.G.,
            Haiman,C.A., Le Marchand,L., Goldberg,M.S., Teo,S.H., Yip,C.H.,
            Borresen-Dale,A.L., Zheng,W., Cai,Q., Winqvist,R., Pylkas,K.,
            Andrulis,I.L., Devilee,P., Tollenaar,R.A., Garcia-Closas,M.,
            Figueroa,J., Hall,P., Czene,K., Brand,J.S., Darabi,H., Eriksson,M.,
            Hooning,M.J., Koppert,L.B., Li,J., Shu,X.O., Zheng,Y., Cox,A.,
            Cross,S.S., Shah,M., Rhenius,V., Choi,J.Y., Kang,D., Hartman,M.,
            Chia,K.S., Kabisch,M., Torres,D., Luccarini,C., Conroy,D.M.,
            Jakubowska,A., Lubinski,J., Sangrajrang,S., Brennan,P., Olswold,C.,
            Slager,S., Shen,C.Y., Hou,M.F., Swerdlow,A., Schoemaker,M.J.,
            Simard,J., Pharoah,P.D., Kristensen,V., Chenevix-Trench,G.,
            Easton,D.F., Dunning,A.M. and Edwards,S.L.
  CONSRTM   kConFab/AOCS Investigators; NBCS Collaborators
  TITLE     Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to
            Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30
            Regulation
  JOURNAL   Am J Hum Genet 99 (4), 903-911 (2016)
   PUBMED   27640304
  REMARK    GeneRIF: data suggest that the strongest signal of association at
            5p12 is mediated through coordinated activation of FGF10 and
            MRPS30, two candidate genes for breast cancer pathogenesis
REFERENCE   5  (bases 1 to 1648)
  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 1648)
  AUTHORS   Zheng,W., Cai,Q., Signorello,L.B., Long,J., Hargreaves,M.K.,
            Deming,S.L., Li,G., Li,C., Cui,Y. and Blot,W.J.
  TITLE     Evaluation of 11 breast cancer susceptibility loci in
            African-American women
  JOURNAL   Cancer Epidemiol Biomarkers Prev 18 (10), 2761-2764 (2009)
   PUBMED   19789366
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   7  (bases 1 to 1648)
  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   8  (bases 1 to 1648)
  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   9  (bases 1 to 1648)
  AUTHORS   Cavdar Koc,E., Burkhart,W., Blackburn,K., Moseley,A. and
            Spremulli,L.L.
  TITLE     The small subunit of the mammalian mitochondrial ribosome.
            Identification of the full complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (22), 19363-19374 (2001)
   PUBMED   11279123
REFERENCE   10 (bases 1 to 1648)
  AUTHORS   Carim,L., Sumoy,L., Nadal,M., Estivill,X. and Escarceller,M.
  TITLE     Cloning, expression, and mapping of PDCD9, the human homolog of
            Gallus gallus pro-apoptotic protein p52
  JOURNAL   Cytogenet Cell Genet 87 (1-2), 85-88 (1999)
   PUBMED   10640817
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF146192.2, BC007735.2 and
            BU676154.1.
            
            On Nov 23, 2018 this sequence version replaced NM_016640.3.
            
            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 28S subunit protein that is similar
            to the chicken pro-apoptotic protein p52. Transcript variants using
            alternative promoters or polyA sites have been mentioned in the
            literature but the complete description of these sequences is not
            available. [provided by RefSeq, Jul 2008].
            
            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 :: SRR5189658.145963.1,
                                           SRR1660803.3338.1 [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                 :: ENST00000507110.6/
                                                  ENSP00000424328.1
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               AF146192.2         23-135
            114-313             BC007735.2         113-312
            314-1445            AF146192.2         336-1467
            1446-1648           BU676154.1         17-219              c
FEATURES             Location/Qualifiers
     source          1..1648
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p12"
     gene            1..1648
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
                     /note="mitochondrial ribosomal protein S30"
                     /db_xref="GeneID:10884"
                     /db_xref="HGNC:HGNC:8769"
                     /db_xref="MIM:611991"
     exon            1..617
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..1336
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
                     /note="programmed cell death 9; 28S ribosomal protein S30,
                     mitochondrial; mitochondrial large ribosomal subunit
                     protein mS30; 39S ribosomal protein S30, mitochondrial;
                     mitochondrial large ribosomal subunit protein mL65"
                     /codon_start=1
                     /product="large ribosomal subunit protein mL65"
                     /protein_id="NP_057724.2"
                     /db_xref="CCDS:CCDS3951.1"
                     /db_xref="GeneID:10884"
                     /db_xref="HGNC:HGNC:8769"
                     /db_xref="MIM:611991"
                     /translation="MAAARCWRPLLRGPRLSLHTAANAAATATETTCQDVAATPVARY
                     PPIVASMTADSKAARLRRIERWQATVHAAESVDEKLRILTKMQFMKYMVYPQTFALNA
                     DRWYQYFTKTVFLSGLPPPPAEPEPEPEPEPEPALDLAALRAVACDCLLQEHFYLRRR
                     RRVHRYEESEVISLPFLDQLVSTLVGLLSPHNPALAAAALDYRCPVHFYWVRGEEIIP
                     RGHRRGRIDDLRYQIDDKPNNQIRISKQLAEFVPLDYSVPIEIPTIKCKPDKLPLFKR
                     QYENHIFVGSKTADPCCYGHTQFHLLPDKLRRERLLRQNCADQIEVVFRANAIASLFA
                     WTGAQAMYQGFWSEADVTRPFVSQAVITDGKYFSFFCYQLNTLALTTQADQNNPRKNI
                     CWGTQSKPLYETIEDNDVKGFNDDVLLQIVHFLLNRPKEEKSQLLEN"
     exon            618..763
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
                     /inference="alignment:Splign:2.1.0"
     exon            764..869
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
                     /inference="alignment:Splign:2.1.0"
     exon            870..1046
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1648
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1423..1428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
                     /note="hexamer: AATACA"
     polyA_site      1445
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
                     /note="major polyA site"
     regulatory      1627..1632
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
                     /note="hexamer: AATAAA"
     polyA_site      1648
                     /gene="MRPS30"
                     /gene_synonym="mL65; MRP-S30; PAP; PDCD9; S30mt"
ORIGIN      
        1 ggaatcgcgg gcaaagatgg cggcggccag gtgttggagg cctttgctac gcggtccgag
       61 gctttcattg cacaccgcgg ctaatgccgc cgccacggct acagaaacga cctgccaaga
      121 cgtcgcggcg acccccgtcg cgcggtaccc gccgattgtg gcctccatga cagccgacag
      181 caaagctgca cggctgcggc ggatcgagcg ctggcaggcg acggtgcacg ctgcggagtc
      241 ggtagacgag aagctgcgaa tcctcaccaa gatgcagttt atgaagtaca tggtttaccc
      301 gcagaccttc gcgctgaatg ccgaccgctg gtaccagtac ttcaccaaga ccgtgttcct
      361 gtcgggtctg ccgccgcccc cagcggagcc cgagcccgag cccgaacccg aacctgaacc
      421 tgcgctggac ctcgcggcgc tgcgtgcggt cgcctgcgac tgcctgctgc aggagcactt
      481 ctacctgcgg cgcaggcggc gcgtgcaccg ttacgaggag agcgaggtca tatctttgcc
      541 cttcctggat cagctggtgt caaccctcgt gggcctcctc agcccacaca acccggccct
      601 ggccgctgcc gccctcgatt atagatgccc agttcatttt tactgggtgc gtggtgaaga
      661 aattattcct cgtggtcatc gaagaggtcg aattgatgac ttgcgatacc agatagatga
      721 taaaccaaac aaccagattc gaatatccaa gcaactcgca gagtttgtgc cattggatta
      781 ttctgttcct atagaaatcc ccactataaa atgtaaacca gacaaacttc cattattcaa
      841 acggcagtat gaaaaccaca tatttgttgg ctcaaaaact gcagatcctt gctgttacgg
      901 tcacacccag tttcatctgt tacctgacaa attaagaagg gaaaggcttt tgagacaaaa
      961 ctgtgctgat cagatagaag ttgtttttag agctaatgct attgcaagcc tttttgcttg
     1021 gactggagca caagctatgt atcaaggatt ctggagtgaa gcagatgtta ctcgaccttt
     1081 tgtctcccag gctgtgatca cagatggaaa atacttttcc tttttctgct accagctaaa
     1141 tactttggca ctgactacac aagctgatca aaataaccct cgtaaaaata tatgttgggg
     1201 tacacaaagt aagcctcttt atgaaacaat tgaggataat gatgtgaaag gttttaatga
     1261 tgatgttcta cttcagatag ttcactttct actgaataga ccaaaagaag aaaaatcaca
     1321 gctgttggaa aactgaaaaa gcatatttga ttgagaactg tgggaatatt taaattttac
     1381 tgaaggaaca ataatgatga gatttgtaac tgtcaactat taaatacatt gatttttgag
     1441 acaaatattt cttatgtcaa cctgttatta gatctcttac tctgctcaaa ttcatcactg
     1501 aaagatttaa ttttagttac cttttgttga tttaaaaata attgcatttg tatattgcta
     1561 actgataaga caaattgagt tattgagcta ttaaatgcac attttaatat aaatgcagaa
     1621 atcccaaata aaatgctaac atactgaa
//
