RPS19 ribosomal protein S19 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

RH79941 (e-PCR)
- UniSTS:90911

RP_S19_1 (e-PCR)
- UniSTS:9417

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 more info	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
involved_in 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 response to extracellular stimulus	TAS Traceable Author Statement 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 more info	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 more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	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

NG_007080.3 RefSeqGene

Range

5338..18008

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1144

mRNA and Protein(s)

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
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
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
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