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    RPS19 ribosomal protein S19 [ Homo sapiens (human) ]

    Gene ID: 6223, updated on 4-Nov-2018

    Summary

    Official Symbol
    RPS19provided by HGNC
    Official Full Name
    ribosomal protein S19provided by HGNC
    Primary source
    HGNC:HGNC:10402
    See related
    Ensembl:ENSG00000105372 MIM:603474; Vega:OTTHUMG00000182676
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DBA; S19; DBA1; eS19
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 359.5), lymph node (RPKM 249.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See RPS19 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (41859918..41871416)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42363988..42375484)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 52 Neighboring gene LY6/PLAUR domain containing 4 Neighboring gene DMRT like family C2 Neighboring gene microRNA 6797 Neighboring gene CD79a molecule Neighboring gene Rho guanine nucleotide exchange factor 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Diamond-Blackfan anemia 1
    MedGen: C2676137 OMIM: 105650 GeneReviews: Diamond-Blackfan Anemia
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-10)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human ribosomal protein S19 (RPS19) at amino acid residues 105-106 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    fibroblast growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of ribosome HDA PubMed 
    structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    SRP-dependent cotranslational protein targeting to membrane TAS
    Traceable Author Statement
    more info
     
    antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    killing of cells of other organism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    maturation of SSU-rRNA IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    monocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of respiratory burst involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
    Traceable Author Statement
    more info
     
    nucleolus organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cellular component movement TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of respiratory burst involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein tetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to extracellular stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    ribosomal small subunit assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ribosomal small subunit assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ribosomal small subunit biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    translation IC
    Inferred by Curator
    more info
    PubMed 
    translational initiation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    cytosolic small ribosomal subunit HDA PubMed 
    cytosolic small ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosolic small ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    focal adhesion HDA PubMed 
    membrane HDA PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    postsynaptic density EXP
    Inferred from Experiment
    more info
    PubMed 
    postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ribosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    40S ribosomal protein S19
    Names
    small ribosomal subunit protein eS19

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007080.3 RefSeqGene

      Range
      5001..16499
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001022.3NP_001013.1  40S ribosomal protein S19 isoform 1

      See identical proteins and their annotated locations for NP_001013.1

      Status: REVIEWED

      Source sequence(s)
      BC018616
      Consensus CDS
      CCDS12588.1
      UniProtKB/Swiss-Prot
      P39019
      UniProtKB/TrEMBL
      B0ZBD0
      Related
      ENSP00000470972.1, OTTHUMP00000269836, ENST00000598742.5, OTTHUMT00000463049
      Conserved Domains (1) summary
      pfam01090
      Location:5141
      Ribosomal_S19e; Ribosomal protein S19e
    2. NM_001321483.1NP_001308412.1  40S ribosomal protein S19 isoform 1

      Status: REVIEWED

      Source sequence(s)
      CB125125
      Consensus CDS
      CCDS12588.1
      UniProtKB/Swiss-Prot
      P39019
      UniProtKB/TrEMBL
      B0ZBD0
      Related
      ENSP00000470004.1, OTTHUMP00000269840, ENST00000593863.5, OTTHUMT00000463054
      Conserved Domains (1) summary
      pfam01090
      Location:5141
      Ribosomal_S19e; Ribosomal protein S19e
    3. NM_001321484.1NP_001308413.1  40S ribosomal protein S19 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AA165492, BG398397, BM468237
      Consensus CDS
      CCDS12588.1
      UniProtKB/Swiss-Prot
      P39019
      UniProtKB/TrEMBL
      B0ZBD0
      Related
      ENSP00000469228.2, ENST00000600467.6
      Conserved Domains (1) summary
      pfam01090
      Location:5141
      Ribosomal_S19e; Ribosomal protein S19e
    4. NM_001321485.1NP_001308414.1  40S ribosomal protein S19 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC243967, BP270469, BU603942, CB124389
      Conserved Domains (1) summary
      cl00969
      Location:557
      Ribosomal_S19e; Ribosomal protein S19e

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      41859918..41871416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027113.2XP_016882602.1  40S ribosomal protein S19 isoform X1

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