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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 t... See more...
Aliases for RPS19 Gene
Aliases for RPS19 Gene
External Ids for RPS19 Gene
- HGNC: 10402
- Entrez Gene: 6223
- Ensembl: ENSG00000105372
- OMIM: 603474
- UniProtKB: P39019
Previous HGNC Symbols for RPS19 Gene
- LOH19CR1
Previous GeneCards Identifiers for RPS19 Gene
- GC19P043003
- GC19P042755
- GC19P047040
- GC19P047055
- GC19P042363
- GC19P038795
Summaries 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 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include protein kinase binding.
UniProtKB/Swiss-Prot Summary for RPS19 Gene
-
Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
Additional gene information for RPS19 Gene
- HGNC(10402)
- Entrez Gene(6223)
- Ensembl(ENSG00000105372)
- OMIM(603474)
- UniProtKB(P39019)
- Open Targets Platform(ENSG00000105372)
- Monarch Initiative
- Search for RPS19 at DataMed
- Search for RPS19 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPS19 Gene
Genomics for RPS19 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RPS19 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RPS19 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPS19
- Top Transcription factor binding sites by QIAGEN in the RPS19 gene promoter:
-
- CUTL1
- GR
- HEN1
- p53
Genomic Locations for RPS19 Gene
Genomic Locations for RPS19 Gene
- chr19:41,860,255-41,872,925
- (GRCh38/hg38)
- Size:
- 12,671 bases
- Orientation:
- Plus strand
- chr19:42,363,988-42,376,994
- (GRCh37/hg19)
- Size:
- 13,007 bases
- Orientation:
- Plus strand
Genomic View for RPS19 Gene
Genes around RPS19 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.2 by HGNC
- 19q13.2 by Entrez Gene
- 19q13.2 by Ensembl
RPS19 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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.
Protein Expression for RPS19 Gene
Post-translational modifications for RPS19 Gene
Other Protein References for RPS19 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for RPS19
- Novus Biologicals Antibodies for RPS19
-
Abcam antibodies for RPS19
- Invitrogen Antibodies for RPS19 (AFLGC-RPS19)
-
Biorbyt antibodies for RPS19
-
Santa Cruz Biotechnology (SCBT) Antibodies for RPS19
Protein Products
- G Biosciences Human RPS19/40S ribosomal protein S19, Lyophilized
- Search Origene for MassSpec and Protein Over-expression Lysates for RPS19
- Origene Custom Protein Services for RPS19
- ProSpec Recombinant Proteins for RPS19
-
Signalway Proteins for RPS19
-
ProSci Proteins for RPS19
-
Abcam proteins for RPS19
Assay Products
- antibodies-online: Show 15 available RPS19 Elisa Kits ranked by validation data
- Compare Top RPS19 Elisa Kits
-
Quality Products:
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
- InterPro:
- Blocks:
-
- Ribosomal protein S19e
- ProtoNet:
Suggested Antigen Peptide Sequences for RPS19 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ92047, Homo sapiens ribosomal protein S19 (RPS19), mRNA (B0ZBD0_HUMAN)
- 40S ribosomal protein S19 (RS19_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P39019- Family:
-
- Belongs to the eukaryotic ribosomal protein eS19 family.
Function for RPS19 Gene
Molecular function for RPS19 Gene
- UniProtKB/Swiss-Prot Function:
- Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
- GENATLAS Biochemistry:
- 40S ribosomal protein S19
Phenotypes From GWAS Catalog for RPS19 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IBA | 21873635 |
| GO:0003735 | structural constituent of ribosome | IEA,IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 16266891 |
| GO:0017134 | fibroblast growth factor binding | IPI | 11716516 |
| GO:0019901 | protein kinase binding | IPI | 16266891 |
Phenotypes for RPS19 Gene
- MGI mutant phenotypes for RPS19:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for RPS19:
-
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- Negative genetic interaction between BLM-/- and BLM+/+
- Synthetic lethal with Ras
- Increased gamma-H2AX phosphorylation
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased Hepatitis C virus replication
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased cell number
- Inconclusive
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased homologous recombination repair frequency
- Decreased HPV16-GFP infection
- Decreased viability in colon lineage
- S arrest
- Decreased cell number, increased S DNA content
Animal Models for RPS19 Gene
- MGI Knock Outs for RPS19:
-
- Rps19 Rps19<tm1Dahl>
Animal Model Products
-
Taconic Biosciences Mouse Models for RPS19
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RPS19 - Select products 50% OFF >
- * RPS19 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RPS19
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPS19
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPS19
miRNA for RPS19 Gene
- miRTarBase miRNAs that target RPS19
-
- hsa-miR-193b-5p (MIRT038007)
- hsa-miR-501-5p (MIRT041145)
- hsa-miR-3591-5p (MIRT451106)
- hsa-miR-6806-5p (MIRT451107)
- hsa-miR-142-3p (MIRT451108)
- hsa-miR-6840-3p (MIRT451109)
- hsa-miR-874-5p (MIRT451110)
- hsa-miR-648 (MIRT451111)
- hsa-miR-449c-5p (MIRT451112)
- hsa-miR-34b-5p (MIRT451113)
- hsa-miR-2682-5p (MIRT451114)
- hsa-miR-940 (MIRT451115)
- hsa-miR-6893-5p (MIRT451116)
- hsa-miR-6808-5p (MIRT451117)
- hsa-miR-6511a-5p (MIRT451118)
- hsa-miR-1910-3p (MIRT451119)
- hsa-miR-548at-5p (MIRT451120)
- hsa-miR-4477a (MIRT508196)
- hsa-miR-1827 (MIRT508198)
- hsa-miR-7703 (MIRT689216)
- hsa-miR-6720-5p (MIRT689217)
- hsa-miR-6512-3p (MIRT689218)
- hsa-miR-6729-5p (MIRT689219)
- hsa-miR-4649-5p (MIRT689220)
- hsa-miR-566 (MIRT689221)
- hsa-miR-6789-3p (MIRT689222)
- hsa-miR-661 (MIRT689223)
- hsa-miR-4252 (MIRT689224)
- hsa-miR-4487 (MIRT689225)
- hsa-miR-558 (MIRT689226)
- hsa-miR-3160-3p (MIRT689227)
- hsa-miR-1273f (MIRT689228)
- hsa-miR-4708-5p (MIRT689229)
- hsa-miR-6088 (MIRT689230)
- hsa-miR-4770 (MIRT689231)
- hsa-miR-143-3p (MIRT689232)
- hsa-miR-4486 (MIRT689233)
- hsa-miR-4793-3p (MIRT689234)
- hsa-miR-766-3p (MIRT689235)
- hsa-miR-939-3p (MIRT689236)
- hsa-miR-6849-3p (MIRT689237)
- hsa-miR-1273g-3p (MIRT689238)
- hsa-miR-652-3p (MIRT689239)
- hsa-miR-508-5p (MIRT689240)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RPS19
- Browse OriGene Inhibitory RNA Products For RPS19
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPS19
Clone Products
- Applied Biological Materials (abm): Clones for RPS19 - Select products 50% OFF >
- * RPS19 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RPS19
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IDA | 12586610 |
| GO:0005737 | cytoplasm | IDA | 17517689 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for RPS19 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Viral mRNA Translation |
CFTR translational fidelity (class I mutations)
.79
.77
.53
|
|
| 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 |
.89
|
|
| 5 | HIV Life Cycle |
.45
|
|
Pathways by source for RPS19 Gene
1 BioSystems pathway for RPS19 Gene
1 KEGG pathway for RPS19 Gene
1 GeneGo (Thomson Reuters) pathway for RPS19 Gene
- CFTR translational fidelity (class I mutations)
Interacting Proteins for RPS19 Gene
Selected Interacting proteins:
P39019-RS19_HUMAN
ENSP00000470972
for RPS19 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RPS19
| 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 |
Drugs & Compounds for RPS19 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Dihydroartemisinin | Experimental, Investigational | Pharma | Target, ligand | 115 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- G Biosciences Human RPS19/40S ribosomal protein S19, Lyophilized
Transcripts for RPS19 Gene
mRNA/cDNA for RPS19 Gene
- 4 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000221975 500 nts (view in UCSC)
- ENST00000593863 526 nts (view in UCSC)
- ENST00000598261 313 nts (view in UCSC)
- ENST00000598399 1172 nts (view in UCSC)
- ENST00000598466 601 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RPS19 - Select products 50% OFF >
- * RPS19 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RPS19
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPS19
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPS19
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RPS19
- Browse OriGene Inhibitory RNA Products For RPS19
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPS19
Clone Products
- Applied Biological Materials (abm): Clones for RPS19 - Select products 50% OFF >
- * RPS19 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RPS19
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RPS19
| 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
Expression for RPS19 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Amnion (Extraembryonic Tissues)
This gene is overexpressed in Bone marrow mesenchymal stem cell (10.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPS19 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPS19
SOURCE GeneReport for Unigene cluster for RPS19 Gene:
Hs.438429mRNA 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(5)
- Nervous system(4.8)
- Blood(4.8)
- Eye(4.7)
- Liver(4.6)
- Kidney(4.6)
- Lung(4.5)
- Skin(4.4)
- Heart(4.2)
- Muscle(4.1)
- Pancreas(3.8)
- Bone marrow(3.8)
- Lymph node(3.6)
- Spleen(3.6)
- Stomach(3.1)
- Adrenal gland(3.1)
- Thyroid gland(3)
- Gall bladder(2.6)
- Bone(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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for RPS19
-
OriGene qPCR primer pairs and template standards for RPS19
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for RPS19 Gene
Orthologs for RPS19 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RPS19 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RPS19 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RPS19 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rps19 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Rps19 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RPS19 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RPS19 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rps19 30 |
|
||
| Str.10833 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | rps19-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | rps19 30 31 |
|
OneToOne | |
| zgc73211 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | RpS19 32 |
|
|
|
| RpS19b 30 31 |
|
OneToMany | |||
| RpS19a 31 |
|
OneToMany | |||
| CG5338 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | rps-19 31 32 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RPS19A 31 33 |
|
OneToMany | |
| RPS19B 31 |
|
OneToMany | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G61170 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0424500 30 |
|
- Species where no ortholog for RPS19 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for RPS19: view image
Paralogs for RPS19 Gene
Pseudogenes.org Pseudogenes for RPS19 Gene
No data available for Paralogs for RPS19 Gene
Variants for RPS19 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPS19 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640546 | Uncertain Significance: Diamond-Blackfan anemia | 41,869,033(+) | TC/CT | MISSENSE_VARIANT | |
| 644396 | Pathogenic: Diamond-Blackfan anemia | 41,869,029(+) | A/G | SPLICE_ACCEPTOR_VARIANT | |
| 647481 | Likely Pathogenic: Diamond-Blackfan anemia | 41,861,111(+) | G/A | SPLICE_ACCEPTOR_VARIANT | |
| 656681 | Uncertain Significance: Diamond-Blackfan anemia | 41,869,752(+) | A/G | MISSENSE_VARIANT,SYNONYMOUS_VARIANT | |
| 696642 | Benign: Diamond-Blackfan anemia | 41,869,759(+) | G/C | INTRON_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS19 Gene
Disorders for RPS19 Gene
(17) MalaCards diseases for RPS19 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diamond-blackfan anemia 1 |
|
|
| diamond-blackfan anemia |
|
|
| macrocytic anemia |
|
|
| cartilage-hair hypoplasia |
|
|
| transient erythroblastopenia of childhood |
|
|
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.24}. 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
- Open Targets Platform
No data available for Genatlas for RPS19 Gene
Publications for RPS19 Gene
- 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 23 41
- RPS19 mutations in patients with Diamond-Blackfan anemia. (PMID: 18412286) Campagnoli MF … Dianzani I (Human mutation 2008) 3 4 23
- 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 23
- 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 23
- 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 23 41
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