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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 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]
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.
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 |
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 | -- |
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
|
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 |
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 |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||
SP6: | - | - | - | - | |||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||
SP8: | - | - |
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 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
diamond-blackfan anemia 1 |
|
|
diamond-blackfan anemia |
|
|
macrocytic anemia |
|
|
cartilage-hair hypoplasia |
|
|
transient erythroblastopenia of childhood |
|
|