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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. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G041957 1.4 ENCODE dbSUPER 21.6 +98.7 98717 2.9 HDGF PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF526 RABAC1 RPS19 CCDC97 MEGF8 CD79A ATP1A3 ZNF574 ERF TMEM145
GH19G041294 2.1 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -556.6 -556622 16.8 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 SNRPA ZNF526 ENSG00000269843 ZNF574 TGFB1 TMEM91 ITPKC HNRNPUL1 CCDC97 B9D2
GH19G041882 1.4 ENCODE dbSUPER 12.8 +26.7 26741 9.2 MLX CREB3L1 FEZF1 DMAP1 YBX1 YY1 ZNF143 ZNF548 ZNF263 MCM3 RABAC1 MEGF8 ZNF526 RPS19 TMEM145 LOC390937 ARHGEF1 PCAT19 PLEKHA3P1
GH19G041217 1.8 FANTOM5 ENCODE dbSUPER 9.7 -636.8 -636845 10.4 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF302 SNRPA ZNF526 ZNF574 ENSG00000269843 ENSG00000205041 CCDC97 AXL ENSG00000268366 SERTAD3 COQ8B
GH19G042241 1.4 ENCODE dbSUPER 11 +384.8 384820 6.7 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 CIC CCDC97 ZNF526 RPS19 GRIK5 EXOSC5 MEGF8 ENSG00000279539 ENSG00000268643
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000109713 283 2000 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D

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

Genomic Location for RPS19 Gene

Chromosome:
19
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

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 isoforms=7, isoforms=29, Lys38, Lys43, isoforms=77, and isoforms=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

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.

Gene Ontology (GO) - Molecular Function for RPS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
GO:0003735 structural constituent of ribosome IEA,IDA 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:

Animal Model Products

Inhibitory RNA Products

Clone Products

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

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
.56
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:

Inhibitory RNA Products

Clone Products

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

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
chimpanzee
(Pan troglodytes)
Mammalia RPS19 34 35
  • 99.77 (n)
cow
(Bos Taurus)
Mammalia RPS19 34 35
  • 95.63 (n)
dog
(Canis familiaris)
Mammalia RPS19 34 35
  • 95.63 (n)
rat
(Rattus norvegicus)
Mammalia Rps19 34
  • 93.56 (n)
mouse
(Mus musculus)
Mammalia Rps19 34 16 35
  • 93.33 (n)
oppossum
(Monodelphis domestica)
Mammalia RPS19 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPS19 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rps19 34
  • 81.15 (n)
Str.10833 34
African clawed frog
(Xenopus laevis)
Amphibia rps19-prov 34
zebrafish
(Danio rerio)
Actinopterygii rps19 34 35
  • 78.94 (n)
zgc73211 34
fruit fly
(Drosophila melanogaster)
Insecta RpS19 36
  • 64 (a)
RpS19b 34 35
  • 60.42 (n)
CG5338 36
  • 58 (a)
RpS19a 35
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rps-19 36 35
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS19A 35 37
  • 49 (a)
OneToMany
RPS19B 35
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G61170 34
  • 59.71 (n)
rice
(Oryza sativa)
Liliopsida Os03g0424500 34
  • 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 Sequence Context AA Info Type
rs104894711 Pathogenic, Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] 41,869,042(+) CAGCG(C/T)GGCAC upstream-variant-2KB, reference, missense
rs104894717 Pathogenic, Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] 41,860,817(+) AGTTC(A/G/T)TCAGA reference, missense
rs147508369 Pathogenic, Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] 41,861,204(+) CTACA(C/T)GCGAG reference, missense
rs786200936 Pathogenic, Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] 41,869,722(+) TCAGG(A/G)ACAAA downstream-variant-500B, reference, synonymous-codon, missense
VAR_018437 Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
diamond-blackfan anemia 1
  • aase syndrome
diamond-blackfan anemia
  • diamond-blackfan anemia 1
rps19-related diamond-blackfan anemia
  • diamond-blackfan anemia 1
macrocytic anemia
  • anemia macrocytic
cartilage-hair hypoplasia
  • mckusick type metaphyseal chondrodysplasia
- 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.

Relevant External Links for RPS19

Genetic Association Database (GAD)
RPS19
Human Genome Epidemiology (HuGE) Navigator
RPS19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPS19
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) CrActien A. … Da Costa L. (Am. J. Hematol. 2010) 3 22 46 64
  2. RPS19 mutations in patients with Diamond-Blackfan anemia. (PMID: 18412286) Campagnoli M.F. … Dianzani I. (Hum. Mutat. 2008) 3 4 22 64
  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 S.R. (Blood 2007) 3 4 22 64
  4. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. (PMID: 17517689) Angelini M. … Loreni F. (Hum. Mol. Genet. 2007) 3 4 22 64
  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 P.J. (Br. J. Haematol. 2006) 3 22 46 64

Products for RPS19 Gene

Sources for RPS19 Gene

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