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    RPS19 ribosomal protein S19 [ Homo sapiens (human) ]

    Gene ID: 6223, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:10402
    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; LOH19CR1
    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
    NEW
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    Genomic context

    See RPS19 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41860255..41872925)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44679738..44692405)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42364325..42376993)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene LY6/PLAUR domain containing 4 Neighboring gene DMRT like family C2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42364028-42364783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10673 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42373545-42374103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14687 Neighboring gene microRNA 6797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10675 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42388310-42388459 Neighboring gene CD79a molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14690 Neighboring gene Rho guanine nucleotide exchange factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42398525-42399025 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42399985-42400527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42402155-42402655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42407915-42408520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42408521-42409125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42409731-42410335 Neighboring gene ETS repressor factor like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42424596-42425277 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42426221-42426848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10676

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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 2021-03-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-24)

    ClinGen Genome Curation PagePubMed

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables fibroblast growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of ribosome HDA PubMed 
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of ribosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables structural constituent of ribosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cytoplasmic translation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in cytoplasmic translation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in killing of cells of another organism IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maturation of SSU-rRNA IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in monocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of respiratory burst involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleolus organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of respiratory burst involved in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ribosomal small subunit assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ribosomal small subunit assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ribosomal small subunit biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in translation IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    Preferred Names
    small ribosomal subunit protein eS19
    Names
    40S ribosomal protein S19
    loss of heterozygosity on chromosome 19, region 1
    loss of heterozygosity, 19, chromosomal region 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5338..18008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1144

    mRNA and Protein(s)

    1. NM_001022.4NP_001013.1  small ribosomal subunit protein eS19 isoform 1

      See identical proteins and their annotated locations for NP_001013.1

      Status: REVIEWED

      Source sequence(s)
      AC243967, BC018616
      Consensus CDS
      CCDS12588.1
      UniProtKB/Swiss-Prot
      P39019
      UniProtKB/TrEMBL
      B0ZBD0, Q8WVX7
      Related
      ENSP00000470972.1, ENST00000598742.6
      Conserved Domains (1) summary
      pfam01090
      Location:5141
      Ribosomal_S19e; Ribosomal protein S19e
    2. NM_001321483.2NP_001308412.1  small ribosomal subunit protein eS19 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC243967, CB125125
      Consensus CDS
      CCDS12588.1
      UniProtKB/Swiss-Prot
      P39019
      UniProtKB/TrEMBL
      B0ZBD0, Q8WVX7
      Related
      ENSP00000470004.1, ENST00000593863.5
      Conserved Domains (1) summary
      pfam01090
      Location:5141
      Ribosomal_S19e; Ribosomal protein S19e
    3. NM_001321484.2NP_001308413.1  small ribosomal subunit protein eS19 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AA165492, AC243967, BG398397, BM468237
      Consensus CDS
      CCDS12588.1
      UniProtKB/Swiss-Prot
      P39019
      UniProtKB/TrEMBL
      B0ZBD0, Q8WVX7
      Related
      ENSP00000469228.2, ENST00000600467.6
      Conserved Domains (1) summary
      pfam01090
      Location:5141
      Ribosomal_S19e; Ribosomal protein S19e
    4. NM_001321485.2NP_001308414.1  small ribosomal subunit protein eS19 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      41860255..41872925
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      44679738..44692405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)