Symbol: Name: ID: |
RPS19 ribosomal protein S19 GFS:348 |
Gene name: | RPS19 |
Chromosome: | 19q13.2 |
Previous Symbols: | |
Previous Names: | |
Aliases: | DBA |
Name Aliases: | Diamond-Blackfan anemia |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1333780 | Rat Genome Database ID: | RGD:68440 |
HGNC ID: | HGNC:10402 | RefSeq IDs: | NM_001022 |
Entrez Gene ID: | 6223 | Ensembl Gene ID: | ENSG00000105372 |
VEGA IDs: | UniProt ID: | P39019 | |
UCSC ID: | uc002ort.2 | OMIM ID: | 603474 |
Pubmed: | PMID9582194 | ||
CCDS IDs: | CCDSCCDS12588.1 |
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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for RPS19 gene
Catalog | Product Name | Application | Company |
GFS:E00348 | ribosomal protein S19; ELISA kit | ELISA | n/a |
GFS:A00348 | ribosomal protein S19; Anti | ANTIBODIES | n/a |
GFS:P00348 | ribosomal protein S19; Protien | Protien | n/a |