RPS19
Small ribosomal subunit protein eS19
Also known as: DBA, eS19, LOH19CR1, RS19_HUMAN, S19
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P39019
- Gene
- RPS19
- Ensembl
- ENSG00000105372
- Chromosome
- 19
- Canonical length
- 145 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Ribosomal proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
145 residues, UniProt reviewed canonical sequence.
>P39019|RPS19
1 MPGVTVKDVN QQEFVRALAA FLKKSGKLKV PEWVDTVKLA KHKELAPYDE NWFYTRAAST
61 ARHLYLRGGA GVGSMTKIYG GRQRNGVMPS HFSRGSKSVA RRVLQALEGL KMVEKDQDGG
121 RKLTPQGQRD LDRIAGQVAA ANKKHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RPS19 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 4,031 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 4,031 nTPM
- skin: 4,003 nTPM
- ovary: 3,945 nTPM
- esophagus: 3,619 nTPM
- spleen: 3,006 nTPM
- bone marrow: 2,761 nTPM
Single-cell type
- esophageal suprabasal cells: 13,540 nCPM
- extravillous trophoblasts: 11,782 nCPM
- suprabasal keratinocytes: 11,649 nCPM
- esophageal basal cells: 11,343 nCPM
- migrating cytotrophoblasts: 10,322 nCPM
- basal keratinocytes: 10,269 nCPM
Immune cell
- total PBMC: 30,604 nTPM
- memory B-cell: 18,227 nTPM
- naive B-cell: 17,900 nTPM
- naive CD4 T-cell: 15,171 nTPM
- naive CD8 T-cell: 13,839 nTPM
- MAIT T-cell: 13,820 nTPM
Brain region
- medulla oblongata: 712 nTPM
- spinal cord: 707 nTPM
- white matter: 683 nTPM
- thalamus: 621 nTPM
- basal ganglia: 614 nTPM
- pons: 570 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RPS19.
Disease | AllUniProt
Conditions RPS19 is implicated in, by any mechanism.
- Diamond-Blackfan anemia 1 (DBA1) MIM:105650
Disease | GeneticClinVar
83 pathogenic / likely-pathogenic of 300 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Diamond-Blackfan anemia
- Diamond-Blackfan anemia 1
- RPS19-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.37
- gnomAD pLI
- 0.92
- gnomAD missense Z
- 1.45
- DepMap mean gene effect
- -2.78
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- antimicrobial humoral immune response mediated by antimicrobial peptide
- cytoplasmic translation
- defense response to Gram-negative bacterium
- erythrocyte differentiation
- killing of cells of another organism
- maturation of SSU-rRNA
- maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
- monocyte chemotaxis
- negative regulation of respiratory burst involved in inflammatory response
- nucleolus organization
- positive regulation of respiratory burst involved in inflammatory response
- ribosomal small subunit assembly
- ribosomal small subunit biogenesis
- rRNA processing
- translation
Molecular functions
- fibroblast growth factor binding
- identical protein binding
- protein kinase binding
- RNA binding
- structural constituent of ribosome
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Winged helix-like DNA-binding domain superfamily
- Winged helix DNA-binding domain superfamily
- Small ribosomal subunit protein eS19
- Small ribosomal subunit protein eS19, conserved site
- Ribosomal protein S19e
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RPS19 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RPS19 as an antibody target. Whether an autoantibody or antibody against RPS19 could matter depends on whether native RPS19 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RPS19 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RPS19 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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