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Aliases for RPS19 Gene

Aliases for RPS19 Gene

  • Ribosomal Protein S19 2 3 5
  • Small Ribosomal Subunit Protein ES19 3 4
  • 40S Ribosomal Protein S19 3
  • 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 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information for RPS19 Gene

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

Genomics for RPS19 Gene

GeneHancer (GH) Regulatory Elements for RPS19 Gene

Promoters and enhancers for RPS19 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I041859 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 570.3 +2.1 2091 5.9 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC RPS19 PIR51753 ZNF526 CCDC97 HNRNPUL1 ZNF574 RABAC1 CIC ARHGEF1 MIR6797
GH19I041294 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.6 -556.6 -556621 16.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 CCDC97 ZNF526 HNRNPUL1 SNRPA ZNF574 ENSG00000269843 COQ8B TGFB1 AXL ITPKC
GH19I041882 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.3 +26.7 26741 9.2 MLX FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 ARHGEF1 ZNF526 HNRNPUL1 CCDC97 ZNF574 RPS19 RABAC1 CYP2G1P MEGF8 AXL
GH19I041957 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.6 +98.7 98717 2.9 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B RABAC1 ZNF526 HNRNPUL1 CCDC97 ZNF574 RPS19 MEGF8 CD79A ATP1A3 ERF
GH19I042241 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.8 +384.8 384819 6.7 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ENSG00000279539 GSK3A ZNF526 HNRNPUL1 CCDC97 RPS19 GRIK5 EXOSC5 MEGF8 ENSG00000268643
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPS19 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for RPS19 Gene

Genomic Locations for RPS19 Gene
chr19:41,859,918-41,872,926
(GRCh38/hg38)
Size:
13,009 bases
Orientation:
Plus strand
chr19:42,363,988-42,376,994
(GRCh37/hg19)

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

    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

Post-translational modifications for RPS19 Gene

  • Ubiquitination at posLast=77, isoforms=29, posLast=3838, posLast=4343, posLast=7777, and isoforms=111

No data available for DME Specific Peptides for RPS19 Gene

Domains & Families for RPS19 Gene

Gene Families for RPS19 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for RPS19 Gene

Suggested Antigen Peptide Sequences for RPS19 Gene

Graphical View of Domain Structure for InterPro Entry

P39019

UniProtKB/Swiss-Prot:

RS19_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eS19 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eS19 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.

Phenotypes From GWAS Catalog for RPS19 Gene

Gene Ontology (GO) - Molecular Function for RPS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,HDA 22681889
GO:0003735 structural constituent of ribosome HDA,IEA 15883184
GO:0005515 protein binding IPI 16266891
GO:0017134 fibroblast growth factor binding IPI 11716516
GO:0019901 protein kinase binding IPI 16266891
genes like me logo Genes that share ontologies with RPS19: view
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:

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPS19 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RPS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 12586610
GO:0005737 cytoplasm IDA 17517689
genes like me logo Genes that share ontologies with RPS19: view

Pathways & Interactions for RPS19 Gene

SuperPathways for RPS19 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
.55
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 rRNA processing in the nucleus and cytosol
5 HIV Life Cycle
.45
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: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 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
RPS19
ECgene alternative splicing isoforms for
RPS19

Expression for RPS19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RPS19 Gene



Protein tissue co-expression partners for RPS19 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPS19 Gene:

RPS19

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.

Evidence on tissue expression from TISSUES for RPS19 Gene

  • Intestine(4.9)
  • Nervous system(4.8)
  • Eye(4.6)
  • Kidney(4.4)
  • Liver(4.4)
  • Lung(4.4)
  • Heart(4.2)
  • Skin(4.1)
  • Blood(3.9)
  • Muscle(3.9)
  • Bone marrow(3.5)
  • Pancreas(3.5)
  • Lymph node(3.3)
  • Spleen(3.2)
  • Adrenal gland(3.1)
  • Stomach(2.7)
  • Gall bladder(2.6)
  • Thyroid gland(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • pelvis
  • penis
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RPS19: view

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
chimpanzee
(Pan troglodytes)
Mammalia RPS19 33 34
  • 99.77 (n)
cow
(Bos Taurus)
Mammalia RPS19 33 34
  • 95.63 (n)
dog
(Canis familiaris)
Mammalia RPS19 33 34
  • 95.63 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910336 33
  • 93.56 (n)
mouse
(Mus musculus)
Mammalia Rps19 33 16 34
  • 93.33 (n)
oppossum
(Monodelphis domestica)
Mammalia RPS19 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPS19 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rps19 33
  • 81.15 (n)
Str.10833 33
African clawed frog
(Xenopus laevis)
Amphibia rps19-prov 33
zebrafish
(Danio rerio)
Actinopterygii rps19 33 34
  • 78.94 (n)
zgc73211 33
fruit fly
(Drosophila melanogaster)
Insecta RpS19 35
  • 64 (a)
RpS19b 33 34
  • 60.42 (n)
CG5338 35
  • 58 (a)
RpS19a 34
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rps-19 35 34
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS19A 34 36
  • 49 (a)
OneToMany
RPS19B 34
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G61170 33
  • 59.71 (n)
rice
(Oryza sativa)
Liliopsida Os03g0424500 33
  • 60.7 (n)
Species where no ortholog for RPS19 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs104894711 pathogenic, Diamond-Blackfan anemia 1, not provided, Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] 41,869,042(+) C/T coding_sequence_variant, missense_variant
rs104894716 pathogenic, Diamond-Blackfan anemia 1 41,861,138(+) G/A coding_sequence_variant, stop_gained
rs104894717 pathogenic, Diamond-Blackfan anemia 1, not provided, Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] 41,860,817(+) G/A/T coding_sequence_variant, missense_variant
rs1049810645 uncertain-significance, Diamond-Blackfan anemia 41,860,303(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1060503688 likely-pathogenic, Diamond-Blackfan anemia 41,869,724(+) C/T coding_sequence_variant, missense_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
nsv520239 CNV loss 19592680
nsv522854 CNV gain 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)

Additional Variant Information for RPS19 Gene

Human Gene Mutation Database (HGMD)
RPS19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS19

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

Disorders for RPS19 Gene

MalaCards: The human disease database

(10) MalaCards diseases for RPS19 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 1
  • dba1
diamond-blackfan anemia
  • blackfan - diamond syndrome
macrocytic anemia
  • anemia macrocytic
cartilage-hair hypoplasia
  • chh
endemic typhus
  • cat flea rickettsiosis
- elite association - COSMIC cancer census association via MalaCards
Search RPS19 in MalaCards View complete list of genes associated with diseases

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:17517689, ECO:0000269 PubMed:18412286, ECO:0000269 PubMed:9988267, ECO:0000269 Ref.23}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPS19

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity. (PMID: 20054847) Crétien A … Da Costa L (American journal of hematology 2010) 3 22 44 58
  2. RPS19 mutations in patients with Diamond-Blackfan anemia. (PMID: 18412286) Campagnoli MF … Dianzani I (Human mutation 2008) 3 4 22 58
  3. Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. (PMID: 16990592) Flygare J … Ellis SR (Blood 2007) 3 4 22 58
  4. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. (PMID: 17517689) Angelini M … Loreni F (Human molecular genetics 2007) 3 4 22 58
  5. A four base pair insertion in exon 1 of the RPS19 gene is a common polymorphism in African-Americans. (PMID: 17107358) Huang Q … Mason PJ (British journal of haematology 2006) 3 22 44 58

Products for RPS19 Gene

Sources for RPS19 Gene