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RPS17 Gene

protein-coding   GIFtS: 62

GC15M059476
ribosomal protein S17
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
ribosomal protein S171 2
RPS17L11 2 5
RPS17L21 2 5
MGC720071 2
DBA42 5
40S ribosomal protein S172

External Ids:    HGNC: 103971   Entrez Gene: 62182   Ensembl: ENSG000001847797   UniProtKB: P087083   

Export aliases for RPS17 gene to outside databases

Previous GC identifers: GC15M079008 GC15M076138 GC15M080395 GC15M080536 GC15M080608 GC15M082821


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RPS17:
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 S17E family of
ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are
multiple processed pseudogenes of this gene dispersed through the genome. (provided by RefSeq)

Gene Wiki entry for RPS17

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RPS17 gene promoter:
         LUN-1   FOXO1a   RREB-1   Nkx2-2   Pax-6   LCR-F1   E2F-1   E2F   E2F-5   E2F-4   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for RPS17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q   Ensembl cytogenetic band:  15q25.2   HGNC cytogenetic band: 15q

RPS17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPS17 gene location

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M059476:  view genomic region     (about GC identifiers)

Start:
59,476,061 bp from pter
End:
59,479,765 bp from pter
Size:
3,705 bases
Orientation:
minus strand

1 alternative location:
Chr15- 82,821,158-82,824,972     
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: RS17_HUMAN, P08708 (See protein sequence)
Recommended Name: 40S ribosomal protein S17  
Size: 135 amino acids; 15550 Da
Secondary accessions: B2R4U4

Explore the universe of human proteins at neXtProt for RPS17: NX_P08708 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001012.1  

    ENSEMBL proteins: 
    ENSP00000346045 


    Human Recombinant Proteins 
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    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular IEA--
    GO:0005829 cytosol TAS--
    GO:0005840 ribosome NAS3240863
    GO:0022627 cytosolic small ribosomal subunit IDA15883184
    About this table

    RPS17 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RPS17 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RPS17 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR018273 Ribosomal_S17e_CS
     IPR001210 Ribosomal_S17e

    Graphical View of Domain Structure for InterPro Entry P08708

    ProtoNet protein and cluster: P08708

    1 Blocks protein family: IPB001210 Ribosomal protein S17e

    UniProtKB/Swiss-Prot: RS17_HUMAN, P08708
    Similarity: Belongs to the ribosomal protein S17e family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
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    Gene
    Editing:
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    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
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    OriGene GFP tagged cDNA clones in CMV expression vector: RPS17
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: RPS17
    OriGene untagged cDNA clones in CMV expression vector (see all 2): RPS17
    OriGene 3'-UTR clone: RPS17 
    Browse MicroRNA Expression Plasmids 
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    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for RPS17 

    Genatlas biochemistry entry for RPS17:
    40S ribosomal protein S17,15kDa

    1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735 structural constituent of ribosome NAS17647292
    About this table

    RPS17 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    RPS17 for pathways           About GeneDecksing

    1 Kegg Pathway  (Kegg details for RPS17):
        hsa03010 Ribosome

        SABiosciences Custom Pathway-Focused PCR Arrays for RPS17 

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RPS17

    5/14 Interacting proteins for RPS17 (P087082) via UniProtKB, MINT, and/or STRING (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K14Q995582MINT-48887
    RPS11P622802MINT-8044024
    RPS12P253982MINT-8044024
    RPS14P622632MINT-8044024
    RPS16P622492MINT-8044024
    About this table

    5/13 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 13):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364 rRNA processing IMP18697920
    GO:0006412 translation TAS--
    GO:0006413 translational initiation NAS17647292
    GO:0006414 translational elongation EXP15189156
    GO:0006415 translational termination TAS--
    About this table

    RPS17 for ontologies           About GeneDecksing



    (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 Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RPS17


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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 Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
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    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for RPS17
    Sigma-Aldrich shRNA for RPS17
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): RPS17
    OriGene shRNA RFP (see all 2): RPS17
    OriGene basic RS shRNA (see all 2): RPS17
    OriGene siRNA: RPS17
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of RPS17 
    miRNA: Sigma-Aldrich microRNA Mimics for RPS17
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of RPS17 
    Search SABiosciences for Assays for microRNAs that regulate RPS17
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: RPS17
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: RPS17
    OriGene untagged cDNA clones in CMV expression vector (see all 2): RPS17
    OriGene 3'-UTR Clone: RPS17 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for RPS17 
    Primers: OriGene genome-wide validated SYBR primer pairs: RPS17
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for RPS17: PPH20183A

    REFSEQ mRNAs for RPS17 gene: 

    NM_001021.3  

    Additional cDNA sequence: 

    AK311951.1 BC009407.2 BC019899.1 BC020453.1 BC022370.1 BC049824.1 BC062715.1 BC070222.1 
    BC071928.1 CR595559.1 CR602312.1 CR609691.1 CR612555.1 CR615408.1 CR616208.1 CR618328.1 
    CR618357.1 CR620738.1 M13932.1 

    24/69 DOTS entries (see all 69):

    DT.95231387  DT.95378808  DT.98081977  DT.92469637  DT.100060125  DT.100739925  DT.92469644  DT.100638918 
    DT.92469626  DT.92469622  DT.121021573  DT.100739953  DT.100739968  DT.121021874  DT.100739938  DT.91869254 
    DT.100876268  DT.91651851  DT.100868623  DT.95252543  DT.121022024  DT.100739912  DT.121021789  DT.100739963 

    24/2925 AceView cDNA sequences (see all 2925):

    BQ961732 BE277510 BQ689486 AA100259 BE259635 AW327844 AW197160 BM841531 
    BQ682440 BE018962 BU845076 BE407190 AI424764 BG291467 AA371531 BQ949434 
    BM918016 AI818016 CR618357 BQ959691 BG164256 BG754205 BG770424 BM551200 

    highest scoring ESTs for RPS17:

    BG766552 M13932 AA071281 AA094178 AA094742 AA095622 AA147118 AA186422 AA225295 AA228991 

    Unigene Cluster for RPS17:

    Ribosomal protein S17
    Hs.433427  [show with all ESTs]
    Unigene Representative Sequence: BM918752


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000330339(uc002bhq.1 uc002bhr.1)

    (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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    RPS17 expression in normal and diseased human tissues

    1  / 2  / 3

    8 probe-sets matching RPS17 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    34592_at2, 3 U95-A 7 0.94 0.57 0.99 1.00 M13932 1.00 0.77 0.89 1
    34593_g_at2, 3 U95-A 7 0.81 0.48 0.99 1.00 M13932 1.00 0.77 0.89 1
    201665_x_at2, 3 U133-A 5 0.91 0.65 -- -- NM_001021 0.60 0.83 0.73 1
    211487_x_at2 U133-A 5 0.82 0.57 -- -- -- -- -- -- --
    212578_x_at2, 3 U133-A 5 0.82 0.55 -- -- BF026595 0.20 0.50 0.38 1
    201665_x_at2 U133Plus2 5 0.91 0.65 -- -- -- -- -- -- --
    211487_x_at2 U133Plus2 5 0.82 0.57 -- -- -- -- -- -- --
    212578_x_at2 U133Plus2 5 0.82 0.55 -- -- -- -- -- -- --
    About this table

    RPS17 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    RPS17 gene expression
    RPS17 gene electronic northern expression
    RPS17 gene sage expression
    About these images

    CGAP SAGE TAG: GGCCGCGTTC

    SOURCE GeneReport for Unigene cluster: Hs.433427

    Expression variation in blood from EXPOLDB for RPS17

    Primers: OriGene genome-wide validated SYBR primer pairs: RPS17
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for RPS17: PPH20183A
        SABiosciences Custom PCR Arrays for RPS17 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for RPS17 gene from 5/16 species (see all 16)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    RPS171   -- Ribosomal protein S17 89.14(n)
    99.26(a)
    403681  NM_001003099.1  NP_001003099.1 
    cow
    (Bos taurus)
    RPS171   -- ribosomal protein S17 90.86(n)
    99.26(a)
    788861  XM_001255782.1  XP_001255783.1 
    rat
    (Rattus norvegicus)
    RGD15599551   -- similar to 40S ribosomal protein S17 88.89(n)
    93.33(a)
    367324  XM_346081.3  XP_346082.3 
    mouse
    (Mus musculus)
    Rps175
    OTTMUSG000000052281
    7 (45.71 cM)5
    ribosomal protein S175
    predicted gene, OTTMUSG000000052281
    88.38(n)1
    96.97(a)1
    3824921  XM_980426.21  XP_985520.21 
     AK0079925  AK0106475  (see all 16)
    chicken
    (Gallus gallus)
    RPS171   -- ribosomal protein S17 84.46(n)
    100(a)
    374053  NM_204217.1  NP_989548.1 
    About this table        Species with no ortholog for RPS17

    ENSEMBL Gene Tree for RPS17 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for RPS17 gene
    LOC1005055032  

    RPS17 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    2 NCBI SNPs in RPS17 are shown
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs1168408111,2
    --82824835(-) CAACAG/TGGTAG 2 R M mis1 ref10--------
    rs1168408121,2
    --82823348(-) AGTAA-/GAGGTAT 2 R fra1 ref10--------
    About this table

    HapMap Linkage Disequilibrium images for RPS17 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for RPS17
         8 CNVs: 0190 30716 3972 72314 72323 2197 7074 0788

    Search QIAGEN SeqTarget long-range PCR primers for resequencing for RPS17 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RPS17 for disorders           About GeneDecksing

    OMIM: 180472   disorders: 612527  

    UniProtKB/Swiss-Prot: RS17_HUMAN, P08708

  • Defects in RPS17 are the cause of Diamond-Blackfan anemia type 4 (DBA4) [MIM:612527]. DBA4 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

    GeneTests: RPS17

    Diamond-Blackfan Anemia

    Locus Specific Mutation Databases (LSDB): RPS17
    Human Gene Mutation Database (HGMD): RPS17
    Human Genome Epidemiology (HuGE) Navigator: RPS17 (2 documents)

    Export disorders and mutations for RPS17 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/31 PubMed articles for RPS17 gene, integrated from 7 sources (see all 31):
    (articles sorted by number of sources associating them with RPS17)
    1. [Mapping the genes for ribosomal proteins S14 and S17 on human chromosomes using cDNA from a panel of hybrid cells] (PubMed id 7661859)1, 3, 7 Filipenko M.L....Mertvetsov N.P. (1995)
    2. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. (PubMed id 19061985)1, 2 Gazda H.T....Beggs A.H. (2008)
    3. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. (PubMed id 17647292)1, 2 Cmejla R....Pospisilova D. (2007)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Characterization of the human small-ribosomal-subunit proteins by N- terminal and internal sequencing, and mass spectrometry. (PubMed id 8706699)1, 2 Vladimirov S.N.... Otto A. (1996)
    7. The mapping of seven intron-containing ribosomal protein genes shows they are unlinked in the human genome. (PubMed id 1577483)1, 3 Feo S....Fried M. (1992)
    8. The transcriptionally active human ribosomal protein S17 gene. (PubMed id 3240863)1, 2 Chen I.-T. and Roufa D.J. (1988)
    9. Homologous ribosomal proteins in bacteria, yeast, and humans. (PubMed id 3529092)1, 2 Chen I.-T.... Roufa D.J. (1986)
    10. Rapamycin-sensitive phosphorylation of ribosomal protein S17 by p70 S6 kinase. (PubMed id 8878544)1, 7 Patel H.R....Gelfand E.W. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6218 HGNC: 10397 AceView: RPS17 Ensembl:ENSG00000184779 euGenes: HUgn6218
    ECgene: RPS17 Kegg: 6218 H-InvDB: RPS17

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    Diamond-Blackfan Anemia mutation databasehttp://www.dbagenes.unito.it/home.php?select_db=RPS17

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for RPS17 gene:
    Search GeneIP for patents involving RPS17

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

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     "Your Favorite Gene" Pathways and Molecular Interaction Networks Browse Nano Scale siRNA at Sigma-Aldrich
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