Reviewed,
UniProtKB/Swiss-Prot P39019 (RS19_HUMAN)
Last modified
November 25, 2008.
Version 81.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: 40S ribosomal protein S19 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 145 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subunit structure | Interacts with RPS19BP1 By similarity. |
| Subcellular location | Nucleus. Note= Located more specifically in the nucleoli. |
| Tissue specificity | Higher level expression is seen in the colon carcinoma tissue than normal colon tissue. |
| Involvement in disease | Defects in RPS19 are a cause of Diamond-Blackfan anemia (DBA) [MIM:105650]. DBA is a hypoplastic macrocytic anemia characterized by absent or decreased levels of erythroid precursors in bone marrow, that appears in the first year of life. |
| Sequence similarities | Belongs to the ribosomal protein S19e family. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CNBP | P62633 | 1 | EBI-354451,EBI-1047529 | |
| MAGEB2 | O15479 | 1 | EBI-354451,EBI-1057615 | |
| PINX1 | Q96BK5 | 1 | EBI-354451,EBI-721782 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed | ||||||
| Chain | 2 – 145 | 144 | 40S ribosomal protein S19 | PRO_0000153810 | |||||
Natural variations | |||||||||
| Natural variant | 15 | 1 | V → F in DBA. | VAR_018438 | |||||
| Natural variant | 17 | 1 | A → P in DBA. | VAR_046145 | |||||
| Natural variant | 18 | 1 | L → P in DBA. | VAR_018439 | |||||
| Natural variant | 18 | 1 | L → R in DBA. | VAR_046146 | |||||
| Natural variant | 47 | 1 | P → L in DBA. | VAR_018440 | |||||
| Natural variant | 52 | 1 | W → R in DBA. | VAR_018441 | |||||
| Natural variant | 55 | 1 | T → M in DBA. | VAR_018442 | |||||
| Natural variant | 56 | 1 | R → Q in DBA. | VAR_018437 | |||||
| Natural variant | 58 – 60 | 3 | Missing in DBA. | VAR_046147 | |||||
| Natural variant | 59 | 1 | S → F in DBA. | VAR_046148 | |||||
| Natural variant | 61 | 1 | A → E in DBA. | VAR_018443 | |||||
| Natural variant | 62 | 1 | R → Q in DBA. | VAR_018444 | |||||
| Natural variant | 62 | 1 | R → W in DBA. | VAR_006924 | |||||
| Natural variant | 101 | 1 | R → H in DBA. | VAR_018445 | |||||
| Natural variant | 120 | 1 | G → R in DBA. | VAR_018446 | |||||
| Natural variant | 131 | 1 | L → P in DBA. | VAR_018447 | |||||
| Natural variant | 131 | 1 | L → R in DBA. | VAR_046149 | |||||
Sequences
| ||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation." Kondoh N., Schweinfest C.W., Henderson K.W., Papas T.S. Cancer Res. 52:791-796(1992) [PubMed: 1339304] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia." Draptchinskaia N., Gustavsson P., Andersson B., Pettersson M., Willig T.-N.D., Dianzani I., Ball S., Tchernia G., Klar J., Matsson H., Tentler D., Mohandas N., Carlsson B., Dahl N. Nat. Genet. 21:169-175(1999) [PubMed: 9988267] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DBA ARG-52 AND TRP-62. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon, Eye and Placenta. |
| [4] | "Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry." Vladimirov S.N., Ivanov A.V., Karpova G.G., Musolyamov A.K., Egorov T.A., Thiede B., Wittmann-Liebold B., Otto A. Eur. J. Biochem. 239:144-149(1996) [PubMed: 8706699] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-11. Tissue: Placenta. |
| [5] | Bienvenut W.V., Calvo F., Kolch W. Submitted (FEB-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-24; 30-38; 83-94; 102-111 AND 134-145, CLEAVAGE OF INITIATOR METHIONINE, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [6] | "A map of 75 human ribosomal protein genes." Kenmochi N., Kawaguchi T., Rozen S., Davis E., Goodman N., Hudson T.J., Tanaka T., Page D.C. Genome Res. 8:509-523(1998) [PubMed: 9582194] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 120-137. |
| [7] | "Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature." Campagnoli M.F., Garelli E., Quarello P., Carando A., Varotto S., Nobili B., Longoni D., Pecile V., Zecca M., Dufour C., Ramenghi U., Dianzan I. Haematologica 89:480-489(2004) [PubMed: 15075082] [Abstract] Cited for: REVIEW ON DBA VARIANTS. |
| [8] | "Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression." Willig T.-N.D., Draptchinskaia N., Dianzani I., Ball S., Niemeyer C., Ramenghi U., Orfali K., Gustavsson P., Garelli E., Brusco A., Tiemann C., Perignon J.L., Bouchier C., Cicchiello L., Dahl N., Mohandas N., Tchernia G. Blood 94:4294-4306(1999) [PubMed: 10590074] [Abstract] Cited for: VARIANTS DBA PHE-15; GLN-56; GLU-61; TRP-62; HIS-101 AND ARG-120. |
| [9] | "Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population." Ramenghi U., Campagnoli M.F., Garelli E., Carando A., Brusco A., Bagnara G.P., Strippoli P., Izzi G.C., Brandalise S., Riccardi R., Dianzani I. Blood Cells Mol. Dis. 26:417-422(2000) [PubMed: 11112378] [Abstract] Cited for: VARIANTS DBA PRO-18; LEU-47 AND TRP-62. |
| [10] | "Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology." Da Costa L., Tchernia G., Gascard P., Lo A., Meerpohl J., Niemeyer C., Chasis J.-A., Fixler J., Mohandas N. Blood 101:5039-5045(2003) [PubMed: 12586610] [Abstract] Cited for: SUBCELLULAR LOCATION, VARIANTS DBA PHE-15 AND MET-55. |
| [11] | "Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene." Proust A., Da Costa L., Rince P., Landois A., Tamary H., Zaizov R., Tchernia G., Delaunay J. Hematol. J. 4:132-136(2003) [PubMed: 12750732] [Abstract] Cited for: VARIANTS DBA GLN-62 AND PRO-131. |
| [12] | "RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations." Gazda H.T., Zhong R., Long L., Niewiadomska E., Lipton J.M., Ploszynska A., Zaucha J.M., Vlachos A., Atsidaftos E., Viskochil D.H., Niemeyer C.M., Meerpohl J.J., Rokicka-Milewska R., Pospisilova D., Wiktor-Jedrzejczak W., Nathan D.G., Beggs A.H., Sieff C.A. Br. J. Haematol. 127:105-113(2004) [PubMed: 15384984] [Abstract] Cited for: VARIANTS DBA ARG-18; GLN-56; 58-ALA--THR-60 DEL; PHE-59; GLN-62; HIS-101 AND ARG-131. |
| [13] | Pereira J.C., Fiskerstrand T., Ribeiro M.L. Hum. Genet. 115:349-349(2004) Cited for: VARIANT DBA PRO-17. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| M81757 mRNA. Translation: AAA89070.1. AF092907, AF092906 Genomic DNA. Translation: AAD13668.1. BC000023 mRNA. Translation: AAH00023.1. BC007615 mRNA. Translation: AAH07615.1. BC018616 mRNA. Translation: AAH18616.1. AB007155 Genomic DNA. Translation: BAA28593.1. | |
| PIR | I52692. |
| RefSeq | NP_001013.1. |
| UniGene | Hs.438429 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P39019. |
Proteomic databases | |
| PeptideAtlas | P39019. |
Genome annotation databases | |
| Ensembl | ENSG00000105372. Homo sapiens. [Contig view] |
| GeneID | 6223. |
| KEGG | hsa:6223. |
Organism-specific databases | |
| H-InvDB | HIX0015162. |
| HGNC | HGNC:10402. RPS19. |
| MIM | 105650. phenotype. 603474. gene. |
| Orphanet | 124. Blackfan-Diamond disease. |
| PharmGKB | PA31006. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | P39019. |
Enzyme and pathway databases | |
| Reactome | REACT_1762. 3' -UTR-mediated translational regulation. REACT_6167. Influenza Infection. REACT_71. Gene Expression. |
Gene expression databases | |
| ArrayExpress | P39019. |
| CleanEx | HS_RPS19. |
| GermOnline | ENSG00000105372. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001266. Ribosomal_S19e. [Graphical view] |
| PANTHER | PTHR11710. Ribosomal_S19E. 1 hit. |
| Pfam | PF01090. Ribosomal_S19e. 1 hit. [Graphical view] |
| ProDom | PD003854. Ribosomal_S19E. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| PROSITE | PS00628. RIBOSOMAL_S19E. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| LinkHub | P39019. |
| NextBio | 24159. |
| SOURCE | Search... |
Entry information
| Entry name | RS19_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P39019 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| Ribosomal proteins Ribosomal proteins families and list of entries |
| SIMILARITY comments Index of protein domains and families |

Clusters with


