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InnateDB Protein
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IDBP-53334.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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RPS19
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Protein Name
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ribosomal protein S19
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Synonyms
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DBA; DBA1; S19;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000221975
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InnateDB Gene
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IDBG-53332 (RPS19)
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Protein Structure
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| Function |
Required for pre-rRNA processing and maturation of 40S ribosomal subunits. {ECO:0000269PubMed:16990592}.
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| Subcellular Localization |
Nucleus {ECO:0000269PubMed:12586610, ECO:0000269PubMed:17517689}. Note=Located more specifically in the nucleoli.
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| Disease Associations |
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:0000269PubMed:10590074, ECO:0000269PubMed:11112378, ECO:0000269PubMed:12586610, ECO:0000269PubMed:12750732, ECO:0000269PubMed:15384984, ECO:0000269PubMed:9988267, ECO:0000269Ref.20}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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| Tissue Specificity |
Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 147 experimentally validated interaction(s) in this database.
| Experimentally validated |
| Total |
147
[view]
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| Protein-Protein |
144
[view]
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| Protein-DNA |
3
[view]
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| Protein-RNA |
0
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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Molecular Function |
| Accession |
GO Term |
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GO:0003735
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structural constituent of ribosome
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| Biological Process |
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| Cellular Component |
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| PDB ID |
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| InterPro |
IPR001266
Ribosomal protein S19e
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| PFAM |
PF01090
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| PRINTS |
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| PIRSF |
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| SMART |
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| TIGRFAMs |
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| Modification |
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| SwissProt |
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| PhosphoSite |
PhosphoSite-P39019
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| TrEMBL |
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| UniProt Splice Variant |
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| Entrez Gene |
6223
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| UniGene |
Hs.613672
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| RefSeq |
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| HUGO |
HGNC:10402
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| OMIM |
603474
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| CCDS |
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| HPRD |
04591
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| IMGT |
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| EMBL |
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| GenPept |
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Version 5.4