LOCUS       NM_001022               2021 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens ribosomal protein S19 (RPS19), transcript variant 1,
            mRNA.
ACCESSION   NM_001022
VERSION     NM_001022.4
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 2021)
  AUTHORS   Bhoopalan,S.V., Yen,J.S., Mayuranathan,T., Mayberry,K.D., Yao,Y.,
            Lillo Osuna,M.A., Jang,Y., Liyanage,J.S., Blanc,L., Ellis,S.R.,
            Wlodarski,M.W. and Weiss,M.J.
  TITLE     An RPS19-edited model for Diamond-Blackfan anemia reveals
            TP53-dependent impairment of hematopoietic stem cell activity
  JOURNAL   JCI Insight 8 (1), e161810 (2023)
   PUBMED   36413407
  REMARK    GeneRIF: An RPS19-edited model for Diamond-Blackfan anemia reveals
            TP53-dependent impairment of hematopoietic stem cell activity.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2021)
  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   3  (bases 1 to 2021)
  AUTHORS   Singh,S., Vanden Broeck,A., Miller,L., Chaker-Margot,M. and
            Klinge,S.
  TITLE     Nucleolar maturation of the human small subunit processome
  JOURNAL   Science 373 (6560), eabj5338 (2021)
   PUBMED   34516797
REFERENCE   4  (bases 1 to 2021)
  AUTHORS   Takafuji,S., Mori,T., Nishimura,N., Yamamoto,N., Uemura,S.,
            Nozu,K., Terui,K., Toki,T., Ito,E., Muramatsu,H., Takahashi,Y.,
            Matsuo,M., Yamamura,T. and Iijima,K.
  TITLE     Usefulness of functional splicing analysis to confirm precise
            disease pathogenesis in Diamond-Blackfan anemia caused by intronic
            variants in RPS19
  JOURNAL   Pediatr Hematol Oncol 38 (6), 515-527 (2021)
   PUBMED   33622161
  REMARK    GeneRIF: Usefulness of functional splicing analysis to confirm
            precise disease pathogenesis in Diamond-Blackfan anemia caused by
            intronic variants in RPS19.
REFERENCE   5  (bases 1 to 2021)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 2021)
  AUTHORS   Vladimirov,S.N., Ivanov,A.V., Karpova,G.G., Musolyamov,A.K.,
            Egorov,T.A., Thiede,B., Wittmann-Liebold,B. and Otto,A.
  TITLE     Characterization of the human small-ribosomal-subunit proteins by
            N-terminal and internal sequencing, and mass spectrometry
  JOURNAL   Eur J Biochem 239 (1), 144-149 (1996)
   PUBMED   8706699
REFERENCE   7  (bases 1 to 2021)
  AUTHORS   Wool,I.G., Chan,Y.L. and Gluck,A.
  TITLE     Structure and evolution of mammalian ribosomal proteins
  JOURNAL   Biochem Cell Biol 73 (11-12), 933-947 (1995)
   PUBMED   8722009
  REMARK    Review article
REFERENCE   8  (bases 1 to 2021)
  AUTHORS   Kato,S., Sekine,S., Oh,S.W., Kim,N.S., Umezawa,Y., Abe,N.,
            Yokoyama-Kobayashi,M. and Aoki,T.
  TITLE     Construction of a human full-length cDNA bank
  JOURNAL   Gene 150 (2), 243-250 (1994)
   PUBMED   7821789
REFERENCE   9  (bases 1 to 2021)
  AUTHORS   Sieff,C.
  TITLE     Diamond-Blackfan Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301769
REFERENCE   10 (bases 1 to 2021)
  AUTHORS   Kondoh,N., Schweinfest,C.W., Henderson,K.W. and Papas,T.S.
  TITLE     Differential expression of S19 ribosomal protein, laminin-binding
            protein, and human lymphocyte antigen class I messenger RNAs
            associated with colon carcinoma progression and differentiation
  JOURNAL   Cancer Res 52 (4), 791-796 (1992)
   PUBMED   1339304
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff in
            collaboration with Francesco Amaldi. The reference sequence was
            derived from BC018616.1 and AC243967.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001022.3.
            
            Summary: Ribosomes, the organelles that catalyze protein synthesis,
            consist of a small 40S subunit and a large 60S subunit. Together
            these subunits are composed of 4 RNA species and approximately 80
            structurally distinct proteins. This gene encodes a ribosomal
            protein that is a component of the 40S subunit. The protein belongs
            to the S19E family of ribosomal proteins. It is located in the
            cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia
            (DBA), a constitutional erythroblastopenia characterized by absent
            or decreased erythroid precursors, in a subset of patients. This
            suggests a possible extra-ribosomal function for this gene in
            erythropoietic differentiation and proliferation, in addition to
            its ribosomal function. Higher expression levels of this gene in
            some primary colon carcinomas compared to matched normal colon
            tissues has been observed. As is typical for genes encoding
            ribosomal proteins, there are multiple processed pseudogenes of
            this gene dispersed through the genome. [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 :: SRR14038197.309788.1,
                                           SRR11853566.14292.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000598742.6/ ENSP00000470972.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-512               BC018616.1         338-849
            513-2021            AC243967.3         38980-40488         c
FEATURES             Location/Qualifiers
     source          1..2021
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..2021
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="ribosomal protein S19"
                     /db_xref="GeneID:6223"
                     /db_xref="HGNC:HGNC:10402"
                     /db_xref="MIM:603474"
     exon            1..35
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..473
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="isoform 1 is encoded by transcript variant 1; 40S
                     ribosomal protein S19; small ribosomal subunit protein
                     eS19; loss of heterozygosity on chromosome 19, region 1;
                     loss of heterozygosity, 19, chromosomal region 1"
                     /codon_start=1
                     /product="small ribosomal subunit protein eS19 isoform 1"
                     /protein_id="NP_001013.1"
                     /db_xref="CCDS:CCDS12588.1"
                     /db_xref="GeneID:6223"
                     /db_xref="HGNC:HGNC:10402"
                     /db_xref="MIM:603474"
                     /translation="MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKE
                     LAPYDENWFYTRAASTARHLYLRGGAGVGSMTKIYGGRQRNGVMPSHFSRGSKSVARR
                     VLQALEGLKMVEKDQDGGRKLTPQGQRDLDRIAGQVAAANKKH"
     exon            36..106
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /inference="alignment:Splign:2.1.0"
     exon            107..207
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /inference="alignment:Splign:2.1.0"
     exon            208..391
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /inference="alignment:Splign:2.1.0"
     exon            392..446
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /inference="alignment:Splign:2.1.0"
     exon            447..2021
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      492..497
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="hexamer: AATAAA"
     polyA_site      512
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="major polyA site"
     regulatory      2003..2008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
                     /note="hexamer: AATAAA"
     polyA_site      2021
                     /gene="RPS19"
                     /gene_synonym="DBA; DBA1; eS19; LOH19CR1; S19"
ORIGIN      
        1 ccctttcccc tggctggcag cgcggaggcc gcacgatgcc tggagttact gtaaaagacg
       61 tgaaccagca ggagttcgtc agagctctgg cagccttcct caaaaagtcc gggaagctga
      121 aagtccccga atgggtggat accgtcaagc tggccaagca caaagagctt gctccctacg
      181 atgagaactg gttctacacg cgagctgctt ccacagcgcg gcacctgtac ctccggggtg
      241 gcgctggggt tggctccatg accaagatct atgggggacg tcagagaaac ggcgtcatgc
      301 ccagccactt cagccgaggc tccaagagtg tggcccgccg ggtcctccaa gccctggagg
      361 ggctgaaaat ggtggaaaag gaccaagatg gcggccgcaa actgacacct cagggacaaa
      421 gagatctgga cagaatcgcc ggacaggtgg cagctgccaa caagaagcat tagaacaaac
      481 catgctgggt taataaattg cctcattcgt aatcctggtc tgggtctctt ttttgagtct
      541 cttgctctgt cgcccaggct ggagtgcagt ggcgccatct cagctcactg caatctccgc
      601 cttctgggtt caaatgattc tcctgcctca gcctcccaaa gtgctgggat tacaagtgtg
      661 agccactgtg cctggtctgg tttgggtctc ttgattgttc ttcaggggca tgaggaagag
      721 gcgcttcctc ccttcccttg ggtgaggggg cccagggtga ttgggtggct gtttacccgg
      781 cagccagtcg ggccttccca ggtcaaacag ttcccatctg ggtttggagg aaggacccag
      841 gggcccttgt ggctcactcc cccacatcct gtctttgcaa ttgtcagaaa gtgagaaacg
      901 aaaggatggc tgtgagctgt gacctcagct gggcctgggc tgcagaggtg gcttccgctg
      961 gagtaaagca agagggccca gggttcatgc tcttccctgg aaggtagaaa aggacagacc
     1021 accagggagc ctccaccgca aactgacctg tgctgcctac acactaactt tcctgggcct
     1081 ggggcctgca caggctgaat ggtccttgag ccttcactct gcatctgagc ggtcttgggc
     1141 ccgctgagtg gcagtggcag gaagtcggtg gaagcagatc cctgtgcaga agttgaatta
     1201 ccagggcggc cacacacggg ctgcacaacc tttgcagtcg tgcacggcaa gtgggatgtg
     1261 gcctccgccc atgattgggc acctggtcag gctgggagat ccaaatagca cccagtgggc
     1321 agctgtccga cccctggagg ggcaagccag gaaagaaact tagggcccgc tgtgaccaga
     1381 tgtccctccc agttgggaag actaaactgg tttggccaat atctcccagg attcccctgt
     1441 ccaaattatt cctgggatct gacccatttc ctggaaaggg gcgagcctgg gttttgaagt
     1501 tcaaactaga gtttaaatca caactctgcc cctaatccca cgtaaccctg tgcaccttat
     1561 cctctgagcc ttcgtctcct cgtgtgtaag cctgctaact cctgagagac tggacaagat
     1621 gccgtggaga gccttggctc tgagtagctc tgctgctgga cagttcagtt ggcagtcccc
     1681 aaacgtaagg cgtaagagtt taagaagtat cggccaggca cagtggctca cacctgtaat
     1741 ctcaacactt tgggaggccg agacgggctg atcacctgag gttgggagct tgagaacagc
     1801 ctgaccaaca tggagaaacc ctgtctctaa aaataccaaa attagttggg catggtggcg
     1861 cgcacctgta atcccagcta ctcaggaggc tgaggcagaa gaatcgctcg aaccccggag
     1921 gcggaggttg cagtgggttg agatcgagca attgcaatcc agcctgggca acagagcgag
     1981 actccatttc aaaaaaagaa tcaataaaaa tgttaaaagc a
//
