 |
 | Services
| |
 |
Aliases & Descriptions for RPS19
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| | | Descriptions |
|---|
| 40S ribosomal protein S19 2 | | ribosomal protein S19 2 |
|
| | Search outside databases for aliases for RPS19 genePrevious GC identifers: GC19P043003 GC19P042755 GC19P047040 |
Summaries for RPS19(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for RPS19: 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] UniProtKB/Swiss-Prot: RS19_HUMAN, P39019Function: Required for pre-rRNA processing and maturation of 40S ribosomal subunitsGene Wiki entry for RPS19 (Ribosomal_protein_S19) |
Genomic Location for RPS19
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the RPS19 gene 
Entrez Gene cytogenetic band: 19q13.2 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.2RPS19 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P047055:
(about GC identifiers)
Start:
|
47,055,828 bp from pter |
End:
|
47,067,324 bp from pter |
Size:
|
11,497 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000019.8 NT_011109.15
| Proteins for RPS19
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: RS19_HUMAN, P39019 (See
protein sequence)Recommended Name: 40S ribosomal protein S19 Size: 145 amino acids; 16060 Da
Subunit: Interacts with RPS19BP1 (By similarity)
Subcellular location: Nucleus. Note=Located more specifically in the nucleoliPost-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001013.1
ENSEMBL proteins: ENSP00000221975
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
): About this table
Antibodies for RPS19: Assays for RPS19: | Protein
Domains/ Families for RPS19(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P39019
ProtoNet protein and cluster: P39019 1 Blocks protein family: IPB001266 Ribosomal protein S19e
UniProtKB/Swiss-Prot: RS19_HUMAN, P39019Similarity: Belongs to the ribosomal protein S19e family | Gene Function for RPS19
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001022
Applied Biosystems Silencer® siRNAs for RPS19
Sigma-Aldrich siRNA for RPS19  Sigma-Aldrich shRNA for RPS19  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001022                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001022                                  untagged cDNA clone in CMV expression vector: NM_001022 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001022
UniProtKB/Swiss-Prot: RS19_HUMAN, P39019Function: Required for pre-rRNA processing and maturation of 40S ribosomal subunitsGenatlas biochemistry entry for RPS19:40S ribosomal protein S195 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Rps19):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for RPS19
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for RPS19 
5/121 Interacting proteins for RPS19 (P390191, 2 ENSP000002219753) via UniProtKB, MINT, and/or STRING (see all 121
)About this table
5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8
): About this table
|
Drugs & Compounds for RPS19(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for RPS19 1 Novoseek chemical compound relationship for RPS19 gene
About this table
|
Transcripts for RPS19(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001022
Sigma-Aldrich siRNA for RPS19  Sigma-Aldrich shRNA for RPS19  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001022 REFSEQ mRNAs for RPS19 gene: NM_001022.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001022               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001022                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001022                                  untagged cDNA clone in CMV expression vector: NM_001022  Additional cDNA sequence: AK311786.1 BC000023.2 BC007615.2 BC017386.1 BC018616.1 M81757.1 24/66 DOTS entries (see all 66
): DT.95150873 DT.451466 DT.100701260 DT.100701255 DT.91781136 DT.100651397 DT.422781 DT.121486065 DT.92057542 DT.121486123 DT.97863855 DT.121486080 DT.95120271 DT.121486048 DT.121486075 DT.101987507 DT.100057430 DT.100701243 DT.100701246 DT.97846754 DT.100850034 DT.120820 DT.121486129 DT.75173202 24/2533 AceView cDNA sequences (see all 2533
):BQ070067 BF001194 BM889510 AA328492 AI735508 BU785798 BG746669 AW161113 BI769684 AA368860 BI857673 BM766244 W72287 F32037 AI748831 BI115678 AI129764 AI310009 BI834740 AA327060 BQ058545 AI151150 CB111170 BG033557
highest scoring ESTs for RPS19:M81757 AA045577 AA046009 AA053243 AA057843 AA081154 AA083518 AA085334 AA085896 AA143236 Unigene Cluster for RPS19: Ribosomal protein S19 Hs.438429 [show with all ESTs]Unigene Representative Sequence: BQ066037
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RPS19 (see all 8
)
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | |
| SP1: | |   | |   | |   | - |   | - |   | |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |
| SP3: | |   | |   | |   | - |   | - |   | - |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | - |   | |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for RPS19
1 Ensembl transcript including schematic representation: ENST00000221975
|
Expression for RPS19
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| RPS19 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for RPS19
1 / 2 / 3 6 probe-sets matching RPS19 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTGGGTTAAT
SOURCE GeneReport for Unigene cluster: Hs.438429
Expression variation in blood from EXPOLDB for RPS19 UniProtKB/Swiss-Prot: RS19_HUMAN, P39019Tissue specificity: Higher level expression is seen in the colon carcinoma tissue than normal colon tissue |
Orthologs for RPS19
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for RPS19 gene from 5/20 species (see all 20
)
About this table Species with no ortholog for RPS19
ENSEMBL Gene Tree for RPS19 | Paralogs for RPS19(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Pseudogenes
- 1 related pseudogene
|
SNPs/Variants for RPS19(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for RPS19 (up to first 250kb)
|
Disorders & Mutations for RPS19
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 603474 disorders: 105650 UniProtKB/Swiss-Prot: RS19_HUMAN, P39019
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 anomalies10/17 Novoseek disease relationships for RPS19 gene (see all 17
)
About this table
Human Gene Mutation Database: RPS19 Human Genome Epidemiology Navigator: RPS19 (1 document)
|
Medical News for RPS19(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for RPS19 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/112 PubMed articles for RPS19 gene (see all 112
):- A map of 75 human ribosomal protein genes. (PubMed id 9582194)2, 3, 4 Kenmochi N....Page D.C. (1998)
- 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. (PubMed id 12586610)1, 3, 4 Da Costa L.... Mohandas N. (2003)
- Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. (PubMed id 17517689)1, 3, 4 Angelini M....Loreni F. (2007)
- Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. (PubMed id 16990592)1, 3, 4 Flygare J....Ellis S.R. (2007)
- Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. (PubMed id 12750732)1, 3, 4 Proust A.... Delaunay J. (2003)
- Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. (PubMed id 10590074)1, 3, 4 Willig T.-N.D.... Tchernia G. (1999)
- The gene encoding ribosomal protein S19 is mutated in Diamond- Blackfan anaemia. (PubMed id 9988267)1, 3, 4 Draptchinskaia N.... Dahl N. (1999)
- Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. (PubMed id 15075082)1, 3, 4 Campagnoli M.F....Dianzan I. (2004)
- RPS19 mutations in patients with Diamond-Blackfan anemia. (PubMed id 18412286)1, 3, 4 Campagnoli M.F....Dianzani I. (2008)
- Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation. (PubMed id 1339304)1, 3, 4 Kondoh N.... Papas T.S. (1992)
|
Search for RPS19
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing RPS19
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing RPS19
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RPS19(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for RPS19 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.genetests.org/query?gene=RPS19 | | Diamond-Blackfan Anemia mutation database | http://www.dbagenes.unito.it/home.php?select_db=RPS19 |
|
| | | About This Section
| --
| Services for RPS19(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for RPS19:

 | |
 | | | | |
|
 |  |  |
| | | | Search Tocris compounds for RPS19 |
|
 |
 | | | |
GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009
|