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Reviewed, UniProtKB/Swiss-Prot P39019 (RS19_HUMAN)

Last modified June 16, 2009. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    40S ribosomal protein S19
Gene names
Name: RPS19
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length145 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

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

Subunit structure

Interacts with RPS19BP1 By similarity.

Subcellular location

Nucleus. Note: Located more specifically in the nucleoli. Ref.14

Tissue specificity

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

Involvement in disease

Defects in RPS19 are the cause of Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]. DBA1 is 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 malignancy. 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.

Sequence similarities

Belongs to the ribosomal protein S19e family.

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.4 Ref.5
Chain2 – 14514440S ribosomal protein S19
PRO_0000153810

Natural variations

Natural variant9 – 146Missing in DBA1.
VAR_055436
Natural variant151V → F in DBA1; affects protein stability; does not localize to the nucleolus.
VAR_018438
Natural variant171A → P in DBA1.
VAR_046145
Natural variant18 – 192LA → E in DBA1.
VAR_055437
Natural variant181L → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.
VAR_018439
Natural variant181L → R in DBA1.
VAR_046146
Natural variant211F → S in DBA1.
VAR_055438
Natural variant471P → L in DBA1; affects assembly into a functional ribosomal subunit.
VAR_018440
Natural variant521W → C in DBA1.
VAR_055439
Natural variant521W → R in DBA1; affects assembly into a functional ribosomal subunit.
VAR_018441
Natural variant551T → M in DBA1.
VAR_018442
Natural variant561R → Q in DBA1; affects assembly into a functional ribosomal subunit.
VAR_018437
Natural variant571A → P in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.
VAR_055440
Natural variant58 – 603Missing in DBA1.
VAR_046147
Natural variant591S → F in DBA1.
VAR_046148
Natural variant611A → E in DBA1; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.
VAR_018443
Natural variant621R → Q in DBA1; affects assembly into a functional ribosomal subunit.
VAR_018444
Natural variant621R → W in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit.
VAR_006924
Natural variant641L → P in DBA1.
VAR_055441
Natural variant761T → P in DBA1.
VAR_055442
Natural variant78 – 836IYGGRQ → R in DBA1.
VAR_055443
Natural variant1011R → H in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit.
VAR_018445
Natural variant1201G → R in DBA1.
VAR_018446
Natural variant1271G → E in DBA1; affects protein stability; does not localize to the nucleolus; affects assembly into a functional ribosomal subunit.
VAR_055444
Natural variant1311L → P in DBA1.
VAR_018447
Natural variant1311L → R in DBA1.
VAR_046149
Natural variant1351A → T in DBA1.
VAR_055445

Sequences

Sequence LengthMass (Da)Tools
P39019-1 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 181F2DB898E56E41

FASTA14516,060
        10         20         30         40         50         60 
MPGVTVKDVN QQEFVRALAA FLKKSGKLKV PEWVDTVKLA KHKELAPYDE NWFYTRAAST 

        70         80         90        100        110        120 
ARHLYLRGGA GVGSMTKIYG GRQRNGVMPS HFSRGSKSVA RRVLQALEGL KMVEKDQDGG 

       130        140 
RKLTPQGQRD LDRIAGQVAA ANKKH 

« Hide

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 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: 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 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: 16990592] [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: 17517689] [Abstract]
Cited for: SUBCELLULAR LOCALIZATION, 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]"RPS19 mutations in patients with Diamond-Blackfan anemia."
Campagnoli M.F., Ramenghi U., Armiraglio M., Quarello P., Garelli E., Carando A., Avondo F., Pavesi E., Fribourg S., Gleizes P.E., Loreni F., Dianzani I.
Hum. Mutat. 29:911-920(2008) [PubMed: 18412286] [Abstract]
Cited for: REVIEW ON VARIANTS DBA1.
[11]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[12]"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 DBA1 PHE-15; GLN-56; GLU-61; TRP-62; HIS-101 AND ARG-120.
[13]"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 DBA1 PRO-18; LEU-47 AND TRP-62.
[14]"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: VARIANTS DBA1 PHE-15 AND MET-55, SUBCELLULAR LOCATION.
[15]"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 DBA1 GLN-62 AND PRO-131.
[16]"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 DBA1 ARG-18; GLN-56; 58-ALA--THR-60 DEL; PHE-59; GLN-62; HIS-101 AND ARG-131.
[17]Pereira J.C., Fiskerstrand T., Ribeiro M.L.
Hum. Genet. 115:349-349(2004)
Cited for: VARIANT DBA1 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.
IPIIPI00215780.
PIRI52692.
RefSeqNP_001013.1.
UniGeneHs.438429

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActP39019. 11 interactions.

PTM databases

PhosphoSiteP39019.

Proteomic databases

PeptideAtlasP39019.
PRIDEP39019.

Genome annotation databases

EnsemblENSG00000105372. Homo sapiens. [Contig view]
GeneID6223.
KEGGhsa:6223.

Organism-specific databases

GeneCardsGC14M034107.
GC19P047055.
H-InvDBHIX0015162.
HGNCHGNC:10402. RPS19.
MIM105650. phenotype.
603474. gene.
Orphanet124. Blackfan-Diamond disease.
PharmGKBPA31006.
GenAtlasSearch...

Phylogenomic databases

HOVERGENP39019.
OMAP39019. FYIRAAS.

Enzyme and pathway databases

ReactomeREACT_1762. 3' -UTR-mediated translational regulation.
REACT_6167. Influenza Infection.
REACT_71. Gene Expression.

Gene expression databases

ArrayExpressP39019.
BgeeP39019.
CleanExHS_RPS19.
GermOnlineENSG00000105372. Homo sapiens.

Family and domain databases

InterProIPR001266. Ribosomal_S19e.
IPR018277. Ribosomal_S19e_CS.
[Graphical view]
PANTHERPTHR11710. Ribosomal_S19E. 1 hit.
PfamPF01090. Ribosomal_S19e. 1 hit.
[Graphical view]
ProDomPD003854. Ribosomal_S19E. 1 hit.
[Graphical view] [Entries sharing at least one domain]
PROSITEPS00628. RIBOSOMAL_S19E. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio24159.
SOURCESearch...

Entry information

Entry nameRS19_HUMAN
AccessionPrimary (citable) accession number: P39019
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: January 23, 2007
Last modified: June 16, 2009
This is version 88 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (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

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents