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Aliases for RPS19 Gene

Aliases for RPS19 Gene

  • Ribosomal Protein S19 2 3
  • DBA1 3 6
  • DBA 3 6
  • 40S Ribosomal Protein S19 3
  • Diamond-Blackfan Anemia 2
  • S19 3

External Ids for RPS19 Gene

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 endemic typhus. Among its related pathways are Disease and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include protein homodimerization activity and structural constituent of ribosome.

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

Genomic Location for RPS19 Gene

Start:
41,859,918 bp from pter
End:
41,872,926 bp from pter
Size:
13,009 bases
Orientation:
Plus strand

Genomic View for RPS19 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RPS19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS19 Gene

Regulatory Elements for RPS19 Gene

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

Proteins for RPS19 Gene

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

    Protein Symbol:
    P39019-RS19_HUMAN
    Recommended name:
    40S ribosomal protein S19
    Protein Accession:
    P39019
    Secondary Accessions:

    Protein attributes for RPS19 Gene

    Size:
    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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys7, Lys29, Lys38, Lys43, Lys77, and Lys111

Other Protein References for RPS19 Gene

No data available for DME Specific Peptides for RPS19 Gene

Domains for RPS19 Gene

Gene Families for RPS19 Gene

HGNC:
  • RPS :S ribosomal proteins

Protein Domains for RPS19 Gene

UniProtKB/Swiss-Prot:

RS19_HUMAN
Family:
  • Belongs to the ribosomal protein S19e family.:
    • P39019
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.

Gene Ontology (GO) - Molecular Function for RPS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IDA 15883184
GO:0005515 protein binding IPI 16266891
GO:0017134 fibroblast growth factor binding IPI 11716516
GO:0019901 protein kinase binding IPI 16266891
GO:0042803 protein homodimerization activity IDA 11226885
genes like me logo Genes that share ontologies with RPS19: view
genes like me logo Genes that share phenotypes with RPS19: view

Animal Models for RPS19 Gene

MGI Knock Outs for RPS19:

miRNA for RPS19 Gene

miRTarBase miRNAs that target RPS19

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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

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

Gene Ontology (GO) - Cellular Components for RPS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005730 nucleolus IDA 12586610
GO:0005737 cytoplasm IDA 17517689
GO:0005829 cytosol TAS --
GO:0005840 ribosome IDA 17517689
genes like me logo Genes that share ontologies with RPS19: view

Pathways for RPS19 Gene

SuperPathways for RPS19 Gene

Superpath Contained pathways
1 Influenza Viral RNA Transcription and Replication
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
3 CFTR translational fidelity (class I mutations)
.54
4 Disease
5 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
genes like me logo Genes that share pathways with RPS19: view

Pathways by source for RPS19 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for RPS19 Gene
1 BioSystems pathway for RPS19 Gene

Gene Ontology (GO) - Biological Process for RPS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IMP 17053056
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP 16990592
GO:0002548 monocyte chemotaxis IDA 11226885
GO:0006364 rRNA processing IMP 18697920
genes like me logo Genes that share ontologies with RPS19: view

Compounds for RPS19 Gene

(2) Novoseek inferred chemical compound relationships for RPS19 Gene

Compound -log(P) Hits PubMed IDs
anaphylatoxin 47 1
rrna 33.4 5
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
RPS19
ECgene alternative splicing isoforms for
RPS19

Expression for RPS19 Gene

mRNA expression in normal human tissues for RPS19 Gene

Integrated Proteomics: protein expression 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

P39019-RS19_HUMAN
Tissue specificity: Higher level expression is seen in the colon carcinoma tissue than normal colon tissue
genes like me logo Genes that share expressions with RPS19: view

Orthologs for RPS19 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPS19 36
  • 99.77 (n)
  • 100 (a)
RPS19 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPS19 36
  • 95.63 (n)
  • 100 (a)
RPS19 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPS19 36
  • 95.63 (n)
  • 100 (a)
RPS19 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rps19 36
  • 93.33 (n)
  • 99.31 (a)
Rps19 16
Rps19 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RPS19 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPS19 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910336 36
  • 93.56 (n)
  • 99.31 (a)
African clawed frog
(Xenopus laevis)
Amphibia rps19-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia rps19 36
  • 81.15 (n)
  • 95.17 (a)
Str.10833 36
zebrafish
(Danio rerio)
Actinopterygii rps19 36
  • 78.94 (n)
  • 88.89 (a)
rps19 37
  • 81 (a)
OneToOne
zgc73211 36
fruit fly
(Drosophila melanogaster)
Insecta RpS19a 37
  • 58 (a)
OneToMany
RpS19b 36
  • 60.42 (n)
  • 58.33 (a)
RpS19b 37
  • 54 (a)
OneToMany
CG5338 38
  • 58 (a)
RpS19 38
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea rps-19 37
  • 51 (a)
OneToOne
rps-19 38
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS19A 37
  • 49 (a)
OneToMany
RPS19A 39
RPS19B 37
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G61170 36
  • 59.71 (n)
  • 58.27 (a)
rice
(Oryza sativa)
Liliopsida Os03g0424500 36
  • 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

ENSEMBL:
Gene Tree for RPS19 (if available)
TreeFam:
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 MAF
rs873282 -- 41,863,834(-) TGTCC(A/G)GGGCT intron-variant
rs930102 -- 41,860,325(+) CGAGG(C/T)GGCAG intron-variant
rs930103 -- 41,862,592(+) TCTGC(A/G)CATAC intron-variant
rs2075749 -- 41,860,935(+) GCAGG(C/G)GAGGC intron-variant
rs2075752 -- 41,870,766(+) TTGGC(G/T)CACAC intron-variant

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

Relevant External Links for RPS19 Gene

HapMap Linkage Disequilibrium report
RPS19
Human Gene Mutation Database (HGMD)
RPS19
Locus Specific Mutation Databases (LSDB)
RPS19

Disorders for RPS19 Gene

(1) OMIM Diseases for RPS19 Gene (603474)

UniProtKB/Swiss-Prot

RS19_HUMAN
  • 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.20}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(17) Novoseek inferred disease relationships for RPS19 Gene

Disease -log(P) Hits PubMed IDs
diamond-blackfan anemia 98.5 63
anemia hypoplastic congenital 93 3
congenital pure red cell aplasia 91.8 1
anemia macrocytic 83 2
anemia hypoplastic 77.3 1

Relevant External Links for RPS19

GeneTests
RPS19
GeneReviews
RPS19
Genetic Association Database (GAD)
RPS19
Human Genome Epidemiology (HuGE) Navigator
RPS19
genes like me logo Genes that share disorders with RPS19: view

Publications for RPS19 Gene

  1. Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation. (PMID: 1339304) Kondoh N. … Papas T.S. (Cancer Res. 1992) 3 4 23
  2. Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression. (PMID: 10590074) Willig T.-N.D. … Tchernia G. (Blood 1999) 3 4 23
  3. Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. (PMID: 11112378) Ramenghi U. … Dianzani I. (Blood Cells Mol. Dis. 2000) 3 4 23
  4. The gene encoding ribosomal protein S19 is mutated in Diamond- Blackfan anaemia. (PMID: 9988267) Draptchinskaia N. … Dahl N. (Nat. Genet. 1999) 3 4 23
  5. Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. (PMID: 12586610) Da Costa L. … Mohandas N. (Blood 2003) 3 4 23

Products for RPS19 Gene

Sources for RPS19 Gene

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