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P39019

- RS19_HUMAN

UniProt

P39019 - RS19_HUMAN

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Protein
40S ribosomal protein S19
Gene
RPS19
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required for pre-rRNA processing and maturation of 40S ribosomal subunits.1 Publication

GO - Molecular functioni

  1. fibroblast growth factor binding Source: BHF-UCL
  2. poly(A) RNA binding Source: UniProtKB
  3. protein binding Source: IntAct
  4. protein homodimerization activity Source: UniProtKB
  5. protein kinase binding Source: UniProtKB
  6. structural constituent of ribosome Source: UniProtKB

GO - Biological processi

  1. RNA metabolic process Source: Reactome
  2. SRP-dependent cotranslational protein targeting to membrane Source: Reactome
  3. cellular protein metabolic process Source: Reactome
  4. erythrocyte differentiation Source: HGNC
  5. gene expression Source: Reactome
  6. mRNA metabolic process Source: Reactome
  7. maturation of SSU-rRNA Source: UniProtKB
  8. maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Source: UniProtKB
  9. monocyte chemotaxis Source: UniProtKB
  10. negative regulation of respiratory burst involved in inflammatory response Source: UniProtKB
  11. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: Reactome
  12. nucleolus organization Source: UniProtKB
  13. positive regulation of cellular component movement Source: HGNC
  14. positive regulation of respiratory burst involved in inflammatory response Source: UniProtKB
  15. protein tetramerization Source: UniProtKB
  16. rRNA processing Source: UniProtKB
  17. response to extracellular stimulus Source: HGNC
  18. ribosomal small subunit assembly Source: UniProtKB
  19. ribosomal small subunit biogenesis Source: UniProtKB
  20. translation Source: UniProtKB
  21. translational elongation Source: Reactome
  22. translational initiation Source: Reactome
  23. translational termination Source: Reactome
  24. viral life cycle Source: Reactome
  25. viral process Source: Reactome
  26. viral transcription Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ribonucleoprotein, Ribosomal protein

Enzyme and pathway databases

ReactomeiREACT_1079. Formation of the ternary complex, and subsequently, the 43S complex.
REACT_115902. SRP-dependent cotranslational protein targeting to membrane.
REACT_1404. Peptide chain elongation.
REACT_1797. Formation of a pool of free 40S subunits.
REACT_1979. Translation initiation complex formation.
REACT_1986. Eukaryotic Translation Termination.
REACT_2085. GTP hydrolysis and joining of the 60S ribosomal subunit.
REACT_75768. Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC).
REACT_75822. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).
REACT_79. L13a-mediated translational silencing of Ceruloplasmin expression.
REACT_931. Ribosomal scanning and start codon recognition.
REACT_9491. Viral mRNA Translation.

Names & Taxonomyi

Protein namesi
Recommended name:
40S ribosomal protein S19
Gene namesi
Name:RPS19
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:10402. RPS19.

Subcellular locationi

Nucleus
Note: Located more specifically in the nucleoli.2 Publications

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: UniProtKB
  3. cytosolic small ribosomal subunit Source: UniProtKB
  4. extracellular vesicular exosome Source: UniProt
  5. nucleolus Source: UniProtKB
  6. ribosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.8 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 146Missing in DBA1.
VAR_055436
Natural varianti15 – 151V → F in DBA1; affects protein stability; does not localize to the nucleolus. 3 Publications
VAR_018438
Natural varianti17 – 171A → P in DBA1. 1 Publication
VAR_046145
Natural varianti18 – 192LA → E in DBA1.
VAR_055437
Natural varianti18 – 181L → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit. 2 Publications
VAR_018439
Natural varianti18 – 181L → R in DBA1. 1 Publication
VAR_046146
Natural varianti21 – 211F → S in DBA1.
VAR_055438
Natural varianti47 – 471P → L in DBA1; affects assembly into a functional ribosomal subunit. 2 Publications
VAR_018440
Natural varianti52 – 521W → C in DBA1.
VAR_055439
Natural varianti52 – 521W → R in DBA1; affects assembly into a functional ribosomal subunit. 2 Publications
VAR_018441
Natural varianti55 – 551T → M in DBA1. 1 Publication
VAR_018442
Natural varianti56 – 561R → Q in DBA1; affects assembly into a functional ribosomal subunit. 3 Publications
VAR_018437
Natural varianti57 – 571A → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit. 1 Publication
VAR_055440
Natural varianti58 – 603Missing in DBA1.
VAR_046147
Natural varianti59 – 591S → F in DBA1. 1 Publication
VAR_046148
Natural varianti61 – 611A → E in DBA1; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit. 2 Publications
VAR_018443
Natural varianti62 – 621R → Q in DBA1; affects assembly into a functional ribosomal subunit. 3 Publications
VAR_018444
Natural varianti62 – 621R → W in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit. 4 Publications
VAR_006924
Natural varianti64 – 641L → P in DBA1.
VAR_055441
Natural varianti76 – 761T → P in DBA1.
VAR_055442
Natural varianti78 – 836IYGGRQ → R in DBA1.
VAR_055443
Natural varianti101 – 1011R → H in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit. 3 Publications
VAR_018445
Natural varianti120 – 1201G → R in DBA1. 2 Publications
VAR_018446
Natural varianti127 – 1271G → E in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.
VAR_055444
Natural varianti131 – 1311L → P in DBA1. 1 Publication
VAR_018447
Natural varianti131 – 1311L → R in DBA1. 1 Publication
VAR_046149
Natural varianti135 – 1351A → T in DBA1.
VAR_055445

Keywords - Diseasei

Diamond-Blackfan anemia, Disease mutation

Organism-specific databases

MIMi105650. phenotype.
Orphaneti124. Blackfan-Diamond anemia.
PharmGKBiPA34803.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 14514440S ribosomal protein S19
PRO_0000153810Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei23 – 231N6-acetyllysine1 Publication
Modified residuei111 – 1111N6-acetyllysine1 Publication
Modified residuei115 – 1151N6-acetyllysine By similarity
Modified residuei143 – 1431N6-succinyllysine By similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP39019.
PaxDbiP39019.
PeptideAtlasiP39019.
PRIDEiP39019.

PTM databases

PhosphoSiteiP39019.

Expressioni

Tissue specificityi

Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.

Gene expression databases

ArrayExpressiP39019.
BgeeiP39019.
CleanExiHS_RPS19.
GenevestigatoriP39019.

Interactioni

Subunit structurei

Interacts with RPS19BP1 By similarity.

Binary interactionsi

WithEntry#Exp.IntActNotes
PIM1P113097EBI-354451,EBI-696621

Protein-protein interaction databases

BioGridi112137. 125 interactions.
IntActiP39019. 17 interactions.
MINTiMINT-189322.
STRINGi9606.ENSP00000221975.

Structurei

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3J3Aelectron microscopy5.00T1-145[»]
ProteinModelPortaliP39019.
SMRiP39019. Positions 4-144.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG2238.
HOVERGENiHBG000240.
InParanoidiP39019.
KOiK02966.
OMAiHIYLRKD.
OrthoDBiEOG74J99M.
PhylomeDBiP39019.
TreeFamiTF315008.

Family and domain databases

InterProiIPR001266. Ribosomal_S19e.
IPR018277. Ribosomal_S19e_CS.
[Graphical view]
PANTHERiPTHR11710. PTHR11710. 1 hit.
PfamiPF01090. Ribosomal_S19e. 1 hit.
[Graphical view]
ProDomiPD003854. Ribosomal_S19e. 1 hit.
[Graphical view] [Entries sharing at least one domain]
PROSITEiPS00628. RIBOSOMAL_S19E. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P39019-1 [UniParc]FASTAAdd to Basket

« Hide

MPGVTVKDVN QQEFVRALAA FLKKSGKLKV PEWVDTVKLA KHKELAPYDE    50
NWFYTRAAST ARHLYLRGGA GVGSMTKIYG GRQRNGVMPS HFSRGSKSVA 100
RRVLQALEGL KMVEKDQDGG RKLTPQGQRD LDRIAGQVAA ANKKH 145
Length:145
Mass (Da):16,060
Last modified:January 23, 2007 - v2
Checksum:i181F2DB898E56E41
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 146Missing in DBA1.
VAR_055436
Natural varianti15 – 151V → F in DBA1; affects protein stability; does not localize to the nucleolus. 3 Publications
VAR_018438
Natural varianti17 – 171A → P in DBA1. 1 Publication
VAR_046145
Natural varianti18 – 192LA → E in DBA1.
VAR_055437
Natural varianti18 – 181L → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit. 2 Publications
VAR_018439
Natural varianti18 – 181L → R in DBA1. 1 Publication
VAR_046146
Natural varianti21 – 211F → S in DBA1.
VAR_055438
Natural varianti47 – 471P → L in DBA1; affects assembly into a functional ribosomal subunit. 2 Publications
VAR_018440
Natural varianti52 – 521W → C in DBA1.
VAR_055439
Natural varianti52 – 521W → R in DBA1; affects assembly into a functional ribosomal subunit. 2 Publications
VAR_018441
Natural varianti55 – 551T → M in DBA1. 1 Publication
VAR_018442
Natural varianti56 – 561R → Q in DBA1; affects assembly into a functional ribosomal subunit. 3 Publications
VAR_018437
Natural varianti57 – 571A → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit. 1 Publication
VAR_055440
Natural varianti58 – 603Missing in DBA1.
VAR_046147
Natural varianti59 – 591S → F in DBA1. 1 Publication
VAR_046148
Natural varianti61 – 611A → E in DBA1; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit. 2 Publications
VAR_018443
Natural varianti62 – 621R → Q in DBA1; affects assembly into a functional ribosomal subunit. 3 Publications
VAR_018444
Natural varianti62 – 621R → W in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit. 4 Publications
VAR_006924
Natural varianti64 – 641L → P in DBA1.
VAR_055441
Natural varianti76 – 761T → P in DBA1.
VAR_055442
Natural varianti78 – 836IYGGRQ → R in DBA1.
VAR_055443
Natural varianti101 – 1011R → H in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit. 3 Publications
VAR_018445
Natural varianti120 – 1201G → R in DBA1. 2 Publications
VAR_018446
Natural varianti127 – 1271G → E in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.
VAR_055444
Natural varianti131 – 1311L → P in DBA1. 1 Publication
VAR_018447
Natural varianti131 – 1311L → R in DBA1. 1 Publication
VAR_046149
Natural varianti135 – 1351A → T in DBA1.
VAR_055445

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS12588.1.
PIRiI52692.
RefSeqiNP_001013.1. NM_001022.3.
UniGeneiHs.438429.

Genome annotation databases

EnsembliENST00000593863; ENSP00000470004; ENSG00000105372.
ENST00000598742; ENSP00000470972; ENSG00000105372.
ENST00000608106; ENSP00000476258; ENSG00000272852.
ENST00000608215; ENSP00000476809; ENSG00000272852.
GeneIDi6223.
KEGGihsa:6223.
UCSCiuc002ort.3. human.

Polymorphism databases

DMDMi730640.

Cross-referencesi

Web resourcesi

Diamond-Blackfan Anemia mutation database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS12588.1.
PIRi I52692.
RefSeqi NP_001013.1. NM_001022.3.
UniGenei Hs.438429.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3J3A electron microscopy 5.00 T 1-145 [» ]
ProteinModelPortali P39019.
SMRi P39019. Positions 4-144.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112137. 125 interactions.
IntActi P39019. 17 interactions.
MINTi MINT-189322.
STRINGi 9606.ENSP00000221975.

PTM databases

PhosphoSitei P39019.

Polymorphism databases

DMDMi 730640.

Proteomic databases

MaxQBi P39019.
PaxDbi P39019.
PeptideAtlasi P39019.
PRIDEi P39019.

Protocols and materials databases

DNASUi 6223.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000593863 ; ENSP00000470004 ; ENSG00000105372 .
ENST00000598742 ; ENSP00000470972 ; ENSG00000105372 .
ENST00000608106 ; ENSP00000476258 ; ENSG00000272852 .
ENST00000608215 ; ENSP00000476809 ; ENSG00000272852 .
GeneIDi 6223.
KEGGi hsa:6223.
UCSCi uc002ort.3. human.

Organism-specific databases

CTDi 6223.
GeneCardsi GC19P042363.
GeneReviewsi RPS19.
HGNCi HGNC:10402. RPS19.
MIMi 105650. phenotype.
603474. gene.
neXtProti NX_P39019.
Orphaneti 124. Blackfan-Diamond anemia.
PharmGKBi PA34803.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2238.
HOVERGENi HBG000240.
InParanoidi P39019.
KOi K02966.
OMAi HIYLRKD.
OrthoDBi EOG74J99M.
PhylomeDBi P39019.
TreeFami TF315008.

Enzyme and pathway databases

Reactomei REACT_1079. Formation of the ternary complex, and subsequently, the 43S complex.
REACT_115902. SRP-dependent cotranslational protein targeting to membrane.
REACT_1404. Peptide chain elongation.
REACT_1797. Formation of a pool of free 40S subunits.
REACT_1979. Translation initiation complex formation.
REACT_1986. Eukaryotic Translation Termination.
REACT_2085. GTP hydrolysis and joining of the 60S ribosomal subunit.
REACT_75768. Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC).
REACT_75822. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).
REACT_79. L13a-mediated translational silencing of Ceruloplasmin expression.
REACT_931. Ribosomal scanning and start codon recognition.
REACT_9491. Viral mRNA Translation.

Miscellaneous databases

ChiTaRSi RPS19. human.
GeneWikii Ribosomal_protein_S19.
GenomeRNAii 6223.
NextBioi 24159.
PROi P39019.
SOURCEi Search...

Gene expression databases

ArrayExpressi P39019.
Bgeei P39019.
CleanExi HS_RPS19.
Genevestigatori P39019.

Family and domain databases

InterProi IPR001266. Ribosomal_S19e.
IPR018277. Ribosomal_S19e_CS.
[Graphical view ]
PANTHERi PTHR11710. PTHR11710. 1 hit.
Pfami PF01090. Ribosomal_S19e. 1 hit.
[Graphical view ]
ProDomi PD003854. Ribosomal_S19e. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
PROSITEi PS00628. RIBOSOMAL_S19E. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS DBA1 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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-11.
    Tissue: Placenta.
  5. Bienvenut W.V., Calvo F., Kolch W., Lourenco F., Olson M.F.
    Submitted (DEC-2009) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 2-24; 30-38; 83-94; 102-111 AND 134-145, CLEAVAGE OF INITIATOR METHIONINE, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Cervix carcinoma and Mammary 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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: REVIEW ON DBA1 VARIANTS.
  8. "Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits."
    Flygare J., Aspesi A., Bailey J.C., Miyake K., Caffrey J.M., Karlsson S., Ellis S.R.
    Blood 109:980-986(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  9. "Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome."
    Angelini M., Cannata S., Mercaldo V., Gibello L., Santoro C., Dianzani I., Loreni F.
    Hum. Mol. Genet. 16:1720-1727(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS DBA1 PHE-15; PRO-18; LEU-47; ARG-52; GLN-56; PRO-57; GLU-61; GLN-62; TRP-62; HIS-101 AND ARG-120.
  10. Cited for: REVIEW ON VARIANTS DBA1.
  11. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-23 AND LYS-111, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. Cited for: STRUCTURE BY ELECTRON MICROSCOPY (5.0 ANGSTROMS) OF 80S RIBOSOME.
  15. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS DBA1 PHE-15; GLN-56; GLU-61; TRP-62; HIS-101 AND ARG-120.
  16. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS DBA1 PRO-18; LEU-47 AND TRP-62.
  17. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS DBA1 PHE-15 AND MET-55, SUBCELLULAR LOCATION.
  18. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS DBA1 GLN-62 AND PRO-131.
  19. Cited for: VARIANTS DBA1 ARG-18; GLN-56; 58-ALA--THR-60 DEL; PHE-59; GLN-62; HIS-101 AND ARG-131.
  20. Erratum
    Pereira J.C., Fiskerstrand T., Ribeiro M.L.
    Hum. Genet. 115:349-349(2004)
    Cited for: VARIANT DBA1 PRO-17.

Entry informationi

Entry nameiRS19_HUMAN
AccessioniPrimary (citable) accession number: P39019
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: January 23, 2007
Last modified: September 3, 2014
This is version 144 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Ribosomal proteins
    Ribosomal proteins families and list of entries
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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