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RPS19 ribosomal protein S19 [ Homo sapiens (human) ]

Gene ID: 6223, updated on 3-Nov-2024

Summary

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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
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Genomic context

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See RPS19 in Genome Data Viewer
Location:
19q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41860255..41872925)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44679738..44692405)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity. Crétien A, et al. Am J Hematol, 2010 Feb. PMID 20054847
  2. Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis. Juli G, et al. Sci Rep, 2016 Oct 13. PMID 27734913, Free PMC Article
  3. Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Willig TN, et al. Blood, 1999 Dec 15. PMID 10590074
  4. Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia. Matsson H, et al. Hum Genet, 1999 Nov. PMID 10598818
  5. A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome. Tentler D, et al. J Med Genet, 2000 Feb. PMID 10662814, Free PMC Article

See all (308) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity.
    Title: An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity.
  2. Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.
    Title: Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.
  3. Dynamics of uS19 C-Terminal Tail during the Translation Elongation Cycle in Human Ribosomes.
    Title: Dynamics of uS19 C-Terminal Tail during the Translation Elongation Cycle in Human Ribosomes.
  4. Similar to the MIF-knockout mice, treatment with RPS19, but not the mutant RPS19, suppressed cisplatin-induced acute kidney injury (AKI). Mechanistically, we found that both genetic knockout and pharmacological inhibition of MIF protected against AKI by inactivating the CD74-nuclear factor kappaB (NF-kappaB) signaling.
    Title: Blocking Macrophage Migration Inhibitory Factor Protects Against Cisplatin-Induced Acute Kidney Injury in Mice.
  5. Patients with RPS19 mutations had the fewest number of defects, while patients with RPL5 had the greatest number of birth defects. This is the first study to show differences between Diamond-Blackfan anemia (DBA) genetic groups with regards to treatment.
    Title: Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
  6. Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations
    Title: Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
  7. Study shows that the depletion of RPS19 causes a reduction of 47S rRNA synthesis in a number of cell lines of different origins.
    Title: Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis.
  8. The results show that RPS19, RPS21 or RPS24 are upregulated in malignant tissue and may serve as putative biomarkers for prostate cancer.
    Title: Expression of ribosomal proteins in normal and cancerous human prostate tissue.
  9. Study of genetic risk of prevalent hrHPV infections in Nigerian women found significant associations with SNPs on ribosomal protein gene S19 (RPS19) and Thymidylate Synthase gene (TYMS), in an allelic model. This risk remained significant, after adjusting for age, body mass index, smoking, age at menarche, age at sexual debut, lifetime total number of sexual partners and the total number of pregnancies.
    Title: RPS19 and TYMS SNPs and Prevalent High Risk Human Papilloma Virus Infection in Nigerian Women.
  10. Reducing RPS19 in tumor cells or blocking the C5a receptor 1-RPS19 interaction decreases RPS19-mediated immunosuppression, impairs tumor growth, and delays the development of tumors in a transgenic model of breast cancer
    Title: The Ribosomal Protein S19 Suppresses Antitumor Immune Responses via the Complement C5a Receptor 1.
Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Diamond-Blackfan anemia 1
MedGen: C2676137 OMIM: 105650 GeneReviews: Diamond-Blackfan Anemia
not available

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

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in cytosolic ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of cytosolic small ribosomal subunit HDA PubMed 
part_of cytosolic small ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of cytosolic small ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
part_of cytosolic small ribosomal subunit NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in focal adhesion HDA PubMed 
located_in membrane HDA PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in postsynaptic density EXP
Inferred from Experiment
more info
 PubMed 
is_active_in postsynaptic density IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of small-subunit processome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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_001022.4 → NP_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:5 → 141
    Ribosomal_S19e; Ribosomal protein S19e

  2. NM_001321483.2 → NP_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:5 → 141
    Ribosomal_S19e; Ribosomal protein S19e

  3. NM_001321484.2 → NP_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:5 → 141
    Ribosomal_S19e; Ribosomal protein S19e

  4. NM_001321485.2 → NP_001308414.1  small ribosomal subunit protein eS19 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC243967, BP270469, BU603942, CB124389
    Conserved Domains (1) summary
    cl00969
    Location:5 → 57
    Ribosomal_S19e; Ribosomal protein S19e

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P39019.2 GenPept UniProtKB/Swiss-Prot:P39019

Gene LinkOut

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