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Aliases for RPS19 Gene

Aliases for RPS19 Gene

  • Ribosomal Protein S19 2 3 5
  • Diamond-Blackfan Anemia 2
  • DBA1 3
  • DBA 3
  • S19 3

External Ids for RPS19 Gene

Previous GeneCards Identifiers for RPS19 Gene

  • GC19P043003
  • GC19P042755
  • GC19P047040
  • GC19P047055
  • GC19P042363
  • GC19P038795

Summaries for RPS19 Gene

Entrez Gene Summary for RPS19 Gene

  • 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]

GeneCards Summary for RPS19 Gene

RPS19 (Ribosomal Protein S19) is a Protein Coding gene. Diseases associated with RPS19 include Diamond-Blackfan Anemia 1 and Diamond-Blackfan Anemia. Among its related pathways are Viral mRNA Translation and Influenza Viral RNA Transcription and Replication. GO annotations related to this gene include poly(A) RNA binding and protein kinase binding.

UniProtKB/Swiss-Prot for RPS19 Gene

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

Gene Wiki entry for RPS19 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS19 Gene

Genomics for RPS19 Gene

Regulatory Elements for RPS19 Gene

Enhancers for RPS19 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RPS19 on UCSC Golden Path with GeneCards custom track

Promoters for RPS19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RPS19 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the RPS19 gene promoter:

Genomic Location for RPS19 Gene

41,859,918 bp from pter
41,872,926 bp from pter
13,009 bases
Plus strand

Genomic View for RPS19 Gene

Genes around RPS19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS19 Gene

Proteins for RPS19 Gene

  • Protein details for RPS19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    40S ribosomal protein S19
    Protein Accession:

    Protein attributes for RPS19 Gene

    145 amino acids
    Molecular mass:
    16060 Da
    Quaternary structure:
    • Interacts with RPS19BP1.

    Three dimensional structures from OCA and Proteopedia for RPS19 Gene

neXtProt entry for RPS19 Gene

Proteomics data for RPS19 Gene at MOPED

Post-translational modifications for RPS19 Gene

  • Ubiquitination at Lys 7, Lys 29, Lys 38, Lys 43, Lys 77, and Lys 111
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RPS19 Gene

Domains & Families for RPS19 Gene

Gene Families for RPS19 Gene

Protein Domains for RPS19 Gene

Suggested Antigen Peptide Sequences for RPS19 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ribosomal protein S19e family.
  • Belongs to the ribosomal protein S19e family.
genes like me logo Genes that share domains with RPS19: view

Function for RPS19 Gene

Molecular function for RPS19 Gene

GENATLAS Biochemistry:
40S ribosomal protein S19
UniProtKB/Swiss-Prot Function:
Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
genes like me logo Genes that share phenotypes with RPS19: view

Human Phenotype Ontology for RPS19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RPS19 Gene

MGI Knock Outs for RPS19:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for RPS19 Gene

Localization for RPS19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPS19 Gene

Nucleus. Note=Located more specifically in the nucleoli.

Subcellular locations from

Jensen Localization Image for RPS19 Gene COMPARTMENTS Subcellular localization image for RPS19 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
chloroplast 2
mitochondrion 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RPS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005840 ribosome IEA,IDA 17517689
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with RPS19: view

Pathways & Interactions for RPS19 Gene

SuperPathways for RPS19 Gene

Superpath Contained pathways
1 Viral mRNA Translation
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
3 Influenza Viral RNA Transcription and Replication
4 Infectious disease
5 rRNA processing
genes like me logo Genes that share pathways with RPS19: view

SIGNOR curated interactions for RPS19 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RPS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0002548 monocyte chemotaxis IDA 11226885
GO:0006364 rRNA processing IMP,TAS --
GO:0006412 translation IEA,IC 8706699
GO:0006413 translational initiation TAS --
genes like me logo Genes that share ontologies with RPS19: view

Drugs & Compounds for RPS19 Gene

(2) Additional Compounds for RPS19 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RPS19: view

Transcripts for RPS19 Gene

Unigene Clusters for RPS19 Gene

Ribosomal protein S19:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RPS19 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - -
SP7: - -
SP8: - -

Relevant External Links for RPS19 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RPS19 Gene

mRNA expression in normal human tissues for RPS19 Gene

Protein differential expression in normal tissues from HIPED for RPS19 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RPS19 Gene

SOURCE GeneReport for Unigene cluster for RPS19 Gene Hs.438429

mRNA Expression by UniProt/SwissProt for RPS19 Gene

Tissue specificity: Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.
genes like me logo Genes that share expression patterns with RPS19: view

Protein tissue co-expression partners for RPS19 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RPS19 Gene

Orthologs for RPS19 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS19 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia RPS19 35
  • 95.63 (n)
  • 100 (a)
RPS19 36
  • 100 (a)
(Canis familiaris)
Mammalia RPS19 35
  • 95.63 (n)
  • 100 (a)
RPS19 36
  • 93 (a)
(Mus musculus)
Mammalia Rps19 35
  • 93.33 (n)
  • 99.31 (a)
Rps19 16
Rps19 36
  • 99 (a)
(Pan troglodytes)
Mammalia RPS19 35
  • 99.77 (n)
  • 100 (a)
RPS19 36
  • 100 (a)
(Rattus norvegicus)
Mammalia LOC100910336 35
  • 93.56 (n)
  • 99.31 (a)
(Monodelphis domestica)
Mammalia RPS19 36
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia RPS19 36
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rps19 35
  • 81.15 (n)
  • 95.17 (a)
Str.10833 35
African clawed frog
(Xenopus laevis)
Amphibia rps19-prov 35
(Danio rerio)
Actinopterygii rps19 35
  • 78.94 (n)
  • 88.89 (a)
zgc73211 35
rps19 36
  • 81 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5338 37
  • 58 (a)
RpS19 37
  • 64 (a)
RpS19b 35
  • 60.42 (n)
  • 58.33 (a)
RpS19a 36
  • 58 (a)
RpS19b 36
  • 54 (a)
(Caenorhabditis elegans)
Secernentea rps-19 37
  • 53 (a)
rps-19 36
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS19A 36
  • 49 (a)
RPS19B 36
  • 49 (a)
RPS19A 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G61170 35
  • 59.71 (n)
  • 58.27 (a)
(Oryza sativa)
Liliopsida Os03g0424500 35
  • 60.7 (n)
  • 58.21 (a)
Species with no ortholog for RPS19:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPS19 Gene

Gene Tree for RPS19 (if available)
Gene Tree for RPS19 (if available)

Paralogs for RPS19 Gene

genes like me logo Genes that share paralogs with RPS19: view

No data available for Paralogs for RPS19 Gene

Variants for RPS19 Gene

Sequence variations from dbSNP and Humsavar for RPS19 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_006924 Diamond-Blackfan anemia 1 (DBA1)
VAR_018437 Diamond-Blackfan anemia 1 (DBA1)
VAR_018438 Diamond-Blackfan anemia 1 (DBA1)
VAR_018439 Diamond-Blackfan anemia 1 (DBA1)
VAR_018440 Diamond-Blackfan anemia 1 (DBA1)

Structural Variations from Database of Genomic Variants (DGV) for RPS19 Gene

Variant ID Type Subtype PubMed ID
nsv522854 CNV Gain 19592680
dgv3882n71 CNV Loss 21882294
dgv3883n71 CNV Loss 21882294
nsv520239 CNV Loss 19592680

Variation tolerance for RPS19 Gene

Residual Variation Intolerance Score: 31.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPS19 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS19 Gene

Disorders for RPS19 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RPS19 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 1
  • bds
diamond-blackfan anemia
  • blackfan - diamond syndrome
rps19-related diamond-blackfan anemia
  • diamond-blackfan anemia 1
macrocytic anemia
  • anemia macrocytic
transient erythroblastopenia of childhood
  • erythroblastopenia, transient
- elite association - COSMIC cancer census association via MalaCards
Search RPS19 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:10590074, ECO:0000269 PubMed:11112378, ECO:0000269 PubMed:12586610, ECO:0000269 PubMed:12750732, ECO:0000269 PubMed:15384984, ECO:0000269 PubMed:9988267, ECO:0000269 Ref.21}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RPS19

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RPS19: view

No data available for Genatlas for RPS19 Gene

Publications for RPS19 Gene

  1. A map of 75 human ribosomal protein genes. (PMID: 9582194) Kenmochi N. … Page D.C. (Genome Res. 1998) 2 3 4 67
  2. Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity. (PMID: 20054847) CrActien A. … Da Costa L. (Am. J. Hematol. 2010) 3 23
  3. A plasma protein indistinguishable from ribosomal protein S19: conversion to a monocyte chemotactic factor by a factor XIIIa-catalyzed reaction on activated platelet membrane phosphatidylserine in association with blood coagulation. (PMID: 20093496) Semba U. … Yamamoto T. (Am. J. Pathol. 2010) 3 23
  4. Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia. (PMID: 20395159) Schuster J. … Dahl N. (Blood Cells Mol. Dis. 2010) 3 23
  5. Ribosomal protein S19 interacts with macrophage migration inhibitory factor and attenuates its pro-inflammatory function. (PMID: 19155217) Filip A.M. … Meinhardt A. (J. Biol. Chem. 2009) 3 23

Products for RPS19 Gene

Sources for RPS19 Gene