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P39019

- RS19_HUMAN

UniProt

P39019 - RS19_HUMAN

Protein

40S ribosomal protein S19

Gene

RPS19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Required for pre-rRNA processing and maturation of 40S ribosomal subunits.1 Publication

    GO - Molecular functioni

    1. fibroblast growth factor binding Source: BHF-UCL
    2. poly(A) RNA binding Source: UniProtKB
    3. protein binding Source: IntAct
    4. protein homodimerization activity Source: UniProtKB
    5. protein kinase binding Source: UniProtKB
    6. structural constituent of ribosome Source: UniProtKB

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. erythrocyte differentiation Source: HGNC
    3. gene expression Source: Reactome
    4. maturation of SSU-rRNA Source: UniProtKB
    5. maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: UniProtKB
    6. monocyte chemotaxis Source: UniProtKB
    7. mRNA metabolic process Source: Reactome
    8. negative regulation of respiratory burst involved in inflammatory response Source: UniProtKB
    9. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: Reactome
    10. nucleolus organization Source: UniProtKB
    11. positive regulation of cellular component movement Source: HGNC
    12. positive regulation of respiratory burst involved in inflammatory response Source: UniProtKB
    13. protein tetramerization Source: UniProtKB
    14. response to extracellular stimulus Source: HGNC
    15. ribosomal small subunit assembly Source: UniProtKB
    16. ribosomal small subunit biogenesis Source: UniProtKB
    17. RNA metabolic process Source: Reactome
    18. rRNA processing Source: UniProtKB
    19. SRP-dependent cotranslational protein targeting to membrane Source: Reactome
    20. translation Source: UniProtKB
    21. translational elongation Source: Reactome
    22. translational initiation Source: Reactome
    23. translational termination Source: Reactome
    24. viral life cycle Source: Reactome
    25. viral process Source: Reactome
    26. viral transcription Source: Reactome

    Keywords - Molecular functioni

    Ribonucleoprotein, Ribosomal protein

    Enzyme and pathway databases

    ReactomeiREACT_1079. Formation of the ternary complex, and subsequently, the 43S complex.
    REACT_115902. SRP-dependent cotranslational protein targeting to membrane.
    REACT_1404. Peptide chain elongation.
    REACT_1797. Formation of a pool of free 40S subunits.
    REACT_1979. Translation initiation complex formation.
    REACT_1986. Eukaryotic Translation Termination.
    REACT_2085. GTP hydrolysis and joining of the 60S ribosomal subunit.
    REACT_75768. Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC).
    REACT_75822. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).
    REACT_79. L13a-mediated translational silencing of Ceruloplasmin expression.
    REACT_931. Ribosomal scanning and start codon recognition.
    REACT_9491. Viral mRNA Translation.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    40S ribosomal protein S19
    Gene namesi
    Name:RPS19
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:10402. RPS19.

    Subcellular locationi

    Nucleus 2 Publications
    Note: Located more specifically in the nucleoli.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytosol Source: UniProtKB
    3. cytosolic small ribosomal subunit Source: UniProtKB
    4. extracellular vesicular exosome Source: UniProt
    5. membrane Source: UniProtKB
    6. nucleolus Source: UniProtKB
    7. ribosome Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 146Missing in DBA1.
    VAR_055436
    Natural varianti15 – 151V → F in DBA1; affects protein stability; does not localize to the nucleolus. 2 Publications
    VAR_018438
    Natural varianti17 – 171A → P in DBA1. 1 Publication
    VAR_046145
    Natural varianti18 – 192LA → E in DBA1.
    VAR_055437
    Natural varianti18 – 181L → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit. 1 Publication
    VAR_018439
    Natural varianti18 – 181L → R in DBA1. 1 Publication
    VAR_046146
    Natural varianti21 – 211F → S in DBA1.
    VAR_055438
    Natural varianti47 – 471P → L in DBA1; affects assembly into a functional ribosomal subunit. 1 Publication
    VAR_018440
    Natural varianti52 – 521W → C in DBA1.
    VAR_055439
    Natural varianti52 – 521W → R in DBA1; affects assembly into a functional ribosomal subunit. 1 Publication
    VAR_018441
    Natural varianti55 – 551T → M in DBA1. 1 Publication
    VAR_018442
    Natural varianti56 – 561R → Q in DBA1; affects assembly into a functional ribosomal subunit. 2 Publications
    VAR_018437
    Natural varianti57 – 571A → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.
    VAR_055440
    Natural varianti58 – 603Missing in DBA1.
    VAR_046147
    Natural varianti59 – 591S → F in DBA1. 1 Publication
    VAR_046148
    Natural varianti61 – 611A → E in DBA1; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit. 1 Publication
    VAR_018443
    Natural varianti62 – 621R → Q in DBA1; affects assembly into a functional ribosomal subunit. 2 Publications
    VAR_018444
    Natural varianti62 – 621R → W in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit. 3 Publications
    VAR_006924
    Natural varianti64 – 641L → P in DBA1.
    VAR_055441
    Natural varianti76 – 761T → P in DBA1.
    VAR_055442
    Natural varianti78 – 836IYGGRQ → R in DBA1.
    VAR_055443
    Natural varianti101 – 1011R → H in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit. 2 Publications
    VAR_018445
    Natural varianti120 – 1201G → R in DBA1. 1 Publication
    VAR_018446
    Natural varianti127 – 1271G → E in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.
    VAR_055444
    Natural varianti131 – 1311L → P in DBA1. 1 Publication
    VAR_018447
    Natural varianti131 – 1311L → R in DBA1. 1 Publication
    VAR_046149
    Natural varianti135 – 1351A → T in DBA1.
    VAR_055445

    Keywords - Diseasei

    Diamond-Blackfan anemia, Disease mutation

    Organism-specific databases

    MIMi105650. phenotype.
    Orphaneti124. Blackfan-Diamond anemia.
    PharmGKBiPA34803.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 14514440S ribosomal protein S19PRO_0000153810Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei23 – 231N6-acetyllysine1 Publication
    Modified residuei111 – 1111N6-acetyllysine1 Publication
    Modified residuei115 – 1151N6-acetyllysineBy similarity
    Modified residuei143 – 1431N6-succinyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP39019.
    PaxDbiP39019.
    PeptideAtlasiP39019.
    PRIDEiP39019.

    PTM databases

    PhosphoSiteiP39019.

    Expressioni

    Tissue specificityi

    Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.

    Gene expression databases

    ArrayExpressiP39019.
    BgeeiP39019.
    CleanExiHS_RPS19.
    GenevestigatoriP39019.

    Interactioni

    Subunit structurei

    Interacts with RPS19BP1.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PIM1P113097EBI-354451,EBI-696621

    Protein-protein interaction databases

    BioGridi112137. 125 interactions.
    IntActiP39019. 17 interactions.
    MINTiMINT-189322.
    STRINGi9606.ENSP00000221975.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3J3Aelectron microscopy5.00T1-145[»]
    ProteinModelPortaliP39019.
    SMRiP39019. Positions 4-144.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ribosomal protein S19e family.Curated

    Phylogenomic databases

    eggNOGiCOG2238.
    HOVERGENiHBG000240.
    InParanoidiP39019.
    KOiK02966.
    OMAiHIYLRKD.
    OrthoDBiEOG74J99M.
    PhylomeDBiP39019.
    TreeFamiTF315008.

    Family and domain databases

    InterProiIPR001266. Ribosomal_S19e.
    IPR018277. Ribosomal_S19e_CS.
    [Graphical view]
    PANTHERiPTHR11710. PTHR11710. 1 hit.
    PfamiPF01090. Ribosomal_S19e. 1 hit.
    [Graphical view]
    ProDomiPD003854. Ribosomal_S19e. 1 hit.
    [Graphical view] [Entries sharing at least one domain]
    PROSITEiPS00628. RIBOSOMAL_S19E. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P39019-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPGVTVKDVN QQEFVRALAA FLKKSGKLKV PEWVDTVKLA KHKELAPYDE    50
    NWFYTRAAST ARHLYLRGGA GVGSMTKIYG GRQRNGVMPS HFSRGSKSVA 100
    RRVLQALEGL KMVEKDQDGG RKLTPQGQRD LDRIAGQVAA ANKKH 145
    Length:145
    Mass (Da):16,060
    Last modified:January 23, 2007 - v2
    Checksum:i181F2DB898E56E41
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 146Missing in DBA1.
    VAR_055436
    Natural varianti15 – 151V → F in DBA1; affects protein stability; does not localize to the nucleolus. 2 Publications
    VAR_018438
    Natural varianti17 – 171A → P in DBA1. 1 Publication
    VAR_046145
    Natural varianti18 – 192LA → E in DBA1.
    VAR_055437
    Natural varianti18 – 181L → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit. 1 Publication
    VAR_018439
    Natural varianti18 – 181L → R in DBA1. 1 Publication
    VAR_046146
    Natural varianti21 – 211F → S in DBA1.
    VAR_055438
    Natural varianti47 – 471P → L in DBA1; affects assembly into a functional ribosomal subunit. 1 Publication
    VAR_018440
    Natural varianti52 – 521W → C in DBA1.
    VAR_055439
    Natural varianti52 – 521W → R in DBA1; affects assembly into a functional ribosomal subunit. 1 Publication
    VAR_018441
    Natural varianti55 – 551T → M in DBA1. 1 Publication
    VAR_018442
    Natural varianti56 – 561R → Q in DBA1; affects assembly into a functional ribosomal subunit. 2 Publications
    VAR_018437
    Natural varianti57 – 571A → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.
    VAR_055440
    Natural varianti58 – 603Missing in DBA1.
    VAR_046147
    Natural varianti59 – 591S → F in DBA1. 1 Publication
    VAR_046148
    Natural varianti61 – 611A → E in DBA1; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit. 1 Publication
    VAR_018443
    Natural varianti62 – 621R → Q in DBA1; affects assembly into a functional ribosomal subunit. 2 Publications
    VAR_018444
    Natural varianti62 – 621R → W in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit. 3 Publications
    VAR_006924
    Natural varianti64 – 641L → P in DBA1.
    VAR_055441
    Natural varianti76 – 761T → P in DBA1.
    VAR_055442
    Natural varianti78 – 836IYGGRQ → R in DBA1.
    VAR_055443
    Natural varianti101 – 1011R → H in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit. 2 Publications
    VAR_018445
    Natural varianti120 – 1201G → R in DBA1. 1 Publication
    VAR_018446
    Natural varianti127 – 1271G → E in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.
    VAR_055444
    Natural varianti131 – 1311L → P in DBA1. 1 Publication
    VAR_018447
    Natural varianti131 – 1311L → R in DBA1. 1 Publication
    VAR_046149
    Natural varianti135 – 1351A → T in DBA1.
    VAR_055445

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M81757 mRNA. Translation: AAA89070.1.
    AF092907, AF092906 Genomic DNA. Translation: AAD13668.1.
    BC000023 mRNA. Translation: AAH00023.1.
    BC007615 mRNA. Translation: AAH07615.1.
    BC018616 mRNA. Translation: AAH18616.1.
    AB007155 Genomic DNA. Translation: BAA28593.1.
    CCDSiCCDS12588.1.
    PIRiI52692.
    RefSeqiNP_001013.1. NM_001022.3.
    UniGeneiHs.438429.

    Genome annotation databases

    EnsembliENST00000593863; ENSP00000470004; ENSG00000105372.
    ENST00000598742; ENSP00000470972; ENSG00000105372.
    GeneIDi6223.
    KEGGihsa:6223.
    UCSCiuc002ort.3. human.

    Polymorphism databases

    DMDMi730640.

    Cross-referencesi

    Web resourcesi

    Diamond-Blackfan Anemia mutation database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M81757 mRNA. Translation: AAA89070.1 .
    AF092907 , AF092906 Genomic DNA. Translation: AAD13668.1 .
    BC000023 mRNA. Translation: AAH00023.1 .
    BC007615 mRNA. Translation: AAH07615.1 .
    BC018616 mRNA. Translation: AAH18616.1 .
    AB007155 Genomic DNA. Translation: BAA28593.1 .
    CCDSi CCDS12588.1.
    PIRi I52692.
    RefSeqi NP_001013.1. NM_001022.3.
    UniGenei Hs.438429.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3J3A electron microscopy 5.00 T 1-145 [» ]
    ProteinModelPortali P39019.
    SMRi P39019. Positions 4-144.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112137. 125 interactions.
    IntActi P39019. 17 interactions.
    MINTi MINT-189322.
    STRINGi 9606.ENSP00000221975.

    PTM databases

    PhosphoSitei P39019.

    Polymorphism databases

    DMDMi 730640.

    Proteomic databases

    MaxQBi P39019.
    PaxDbi P39019.
    PeptideAtlasi P39019.
    PRIDEi P39019.

    Protocols and materials databases

    DNASUi 6223.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000593863 ; ENSP00000470004 ; ENSG00000105372 .
    ENST00000598742 ; ENSP00000470972 ; ENSG00000105372 .
    GeneIDi 6223.
    KEGGi hsa:6223.
    UCSCi uc002ort.3. human.

    Organism-specific databases

    CTDi 6223.
    GeneCardsi GC19P042363.
    GeneReviewsi RPS19.
    HGNCi HGNC:10402. RPS19.
    MIMi 105650. phenotype.
    603474. gene.
    neXtProti NX_P39019.
    Orphaneti 124. Blackfan-Diamond anemia.
    PharmGKBi PA34803.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2238.
    HOVERGENi HBG000240.
    InParanoidi P39019.
    KOi K02966.
    OMAi HIYLRKD.
    OrthoDBi EOG74J99M.
    PhylomeDBi P39019.
    TreeFami TF315008.

    Enzyme and pathway databases

    Reactomei REACT_1079. Formation of the ternary complex, and subsequently, the 43S complex.
    REACT_115902. SRP-dependent cotranslational protein targeting to membrane.
    REACT_1404. Peptide chain elongation.
    REACT_1797. Formation of a pool of free 40S subunits.
    REACT_1979. Translation initiation complex formation.
    REACT_1986. Eukaryotic Translation Termination.
    REACT_2085. GTP hydrolysis and joining of the 60S ribosomal subunit.
    REACT_75768. Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC).
    REACT_75822. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).
    REACT_79. L13a-mediated translational silencing of Ceruloplasmin expression.
    REACT_931. Ribosomal scanning and start codon recognition.
    REACT_9491. Viral mRNA Translation.

    Miscellaneous databases

    ChiTaRSi RPS19. human.
    GeneWikii Ribosomal_protein_S19.
    GenomeRNAii 6223.
    NextBioi 24159.
    PROi P39019.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P39019.
    Bgeei P39019.
    CleanExi HS_RPS19.
    Genevestigatori P39019.

    Family and domain databases

    InterProi IPR001266. Ribosomal_S19e.
    IPR018277. Ribosomal_S19e_CS.
    [Graphical view ]
    PANTHERi PTHR11710. PTHR11710. 1 hit.
    Pfami PF01090. Ribosomal_S19e. 1 hit.
    [Graphical view ]
    ProDomi PD003854. Ribosomal_S19e. 1 hit.
    [Graphical view ] [Entries sharing at least one domain ]
    PROSITEi PS00628. RIBOSOMAL_S19E. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation."
      Kondoh N., Schweinfest C.W., Henderson K.W., Papas T.S.
      Cancer Res. 52:791-796(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DBA1 ARG-52 AND TRP-62.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Colon, Eye and Placenta.
    4. "Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry."
      Vladimirov S.N., Ivanov A.V., Karpova G.G., Musolyamov A.K., Egorov T.A., Thiede B., Wittmann-Liebold B., Otto A.
      Eur. J. Biochem. 239:144-149(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 2-11.
      Tissue: Placenta.
    5. Bienvenut W.V., Calvo F., Kolch W., Lourenco F., Olson M.F.
      Submitted (DEC-2009) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-24; 30-38; 83-94; 102-111 AND 134-145, CLEAVAGE OF INITIATOR METHIONINE, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Cervix carcinoma and Mammary carcinoma.
    6. "A map of 75 human ribosomal protein genes."
      Kenmochi N., Kawaguchi T., Rozen S., Davis E., Goodman N., Hudson T.J., Tanaka T., Page D.C.
      Genome Res. 8:509-523(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 120-137.
    7. "Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature."
      Campagnoli M.F., Garelli E., Quarello P., Carando A., Varotto S., Nobili B., Longoni D., Pecile V., Zecca M., Dufour C., Ramenghi U., Dianzan I.
      Haematologica 89:480-489(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON DBA1 VARIANTS.
    8. "Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits."
      Flygare J., Aspesi A., Bailey J.C., Miyake K., Caffrey J.M., Karlsson S., Ellis S.R.
      Blood 109:980-986(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    9. "Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome."
      Angelini M., Cannata S., Mercaldo V., Gibello L., Santoro C., Dianzani I., Loreni F.
      Hum. Mol. Genet. 16:1720-1727(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS DBA1 PHE-15; PRO-18; LEU-47; ARG-52; GLN-56; PRO-57; GLU-61; GLN-62; TRP-62; HIS-101 AND ARG-120.
    10. Cited for: REVIEW ON VARIANTS DBA1.
    11. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-23 AND LYS-111, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: STRUCTURE BY ELECTRON MICROSCOPY (5.0 ANGSTROMS) OF 80S RIBOSOME.
    15. "Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression."
      Willig T.-N.D., Draptchinskaia N., Dianzani I., Ball S., Niemeyer C., Ramenghi U., Orfali K., Gustavsson P., Garelli E., Brusco A., Tiemann C., Perignon J.L., Bouchier C., Cicchiello L., Dahl N., Mohandas N., Tchernia G.
      Blood 94:4294-4306(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DBA1 PHE-15; GLN-56; GLU-61; TRP-62; HIS-101 AND ARG-120.
    16. "Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population."
      Ramenghi U., Campagnoli M.F., Garelli E., Carando A., Brusco A., Bagnara G.P., Strippoli P., Izzi G.C., Brandalise S., Riccardi R., Dianzani I.
      Blood Cells Mol. Dis. 26:417-422(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DBA1 PRO-18; LEU-47 AND TRP-62.
    17. "Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology."
      Da Costa L., Tchernia G., Gascard P., Lo A., Meerpohl J., Niemeyer C., Chasis J.-A., Fixler J., Mohandas N.
      Blood 101:5039-5045(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DBA1 PHE-15 AND MET-55, SUBCELLULAR LOCATION.
    18. "Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene."
      Proust A., Da Costa L., Rince P., Landois A., Tamary H., Zaizov R., Tchernia G., Delaunay J.
      Hematol. J. 4:132-136(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS DBA1 GLN-62 AND PRO-131.
    19. Cited for: VARIANTS DBA1 ARG-18; GLN-56; 58-ALA--THR-60 DEL; PHE-59; GLN-62; HIS-101 AND ARG-131.
    20. Erratum
      Pereira J.C., Fiskerstrand T., Ribeiro M.L.
      Hum. Genet. 115:349-349(2004)
      Cited for: VARIANT DBA1 PRO-17.

    Entry informationi

    Entry nameiRS19_HUMAN
    AccessioniPrimary (citable) accession number: P39019
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1995
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 145 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. Ribosomal proteins
      Ribosomal proteins families and list of entries
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3