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RPS17 Gene

protein-coding   GIFtS: 65
GCID: GC15M082821

Ribosomal Protein S17

  See RPS17-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ribosomal Protein S171 2     40S Ribosomal Protein S172
DBA42 5     RPS17L2
RPS17L12 5     S172
RPS17L22 5     

External Ids:    HGNC: 103971   Entrez Gene: 62182   Ensembl: ENSG000001847797   OMIM: 1804725   UniProtKB: P087083   

Export aliases for RPS17 gene to outside databases

Previous GC identifers: GC15M079008 GC15M076138 GC15M080395 GC15M080536 GC15M080608 GC15M059476


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RPS17 Gene:
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, Jul 2008)

GeneCards Summary for RPS17 Gene:
RPS17 (ribosomal protein S17) is a protein-coding gene. Diseases associated with RPS17 include rps17-related diamond-blackfan anemia, and diamond-blackfan anemia 4. GO annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is RPS17L.

Gene Wiki entry for RPS17 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the RPS17 gene promoter:
         COUP-TF1   COUP   HNF-4alpha2   E4BP4   HNF-4alpha1   HNF-1A   S8   COUP-TF   HNF-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPS17 promoter sequence
   Search Chromatin IP Primers for RPS17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPS17


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 information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M082821:  view genomic region     (about GC identifiers)

Start:
82,821,158 bp from pter      End:
82,824,972 bp from pter
Size:
3,815 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RS17_HUMAN, P08708 (See protein sequence)
Recommended Name: 40S ribosomal protein S17  
Size: 135 amino acids; 15550 Da
1 PDB 3D structure from and Proteopedia for RPS17:
3J3A (3D)    
Secondary accessions: B2R4U4

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

Explore proteomics data for RPS17 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys19, Lys49, Lys59, Lys72, Lys107, Lys129
  • Modification sites at PhosphoSitePlus

  • See RPS17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001012.1  
    ENSEMBL proteins: 
     ENSP00000346045   ENSP00000453564   ENSP00000452655   ENSP00000452696  
    Reactome Protein details: P08708

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    antibodies-online peptides for RPS17

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    antibodies-online antibodies for RPS17 (19 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RPS: S ribosomal proteins

    2 InterPro protein domains:
     IPR018273 Ribosomal_S17e_CS
     IPR001210 Ribosomal_S17e

    Graphical View of Domain Structure for InterPro Entry P08708

    ProtoNet protein and cluster: P08708

    1 Blocks protein domain: IPB001210 Ribosomal protein S17e

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


    Find genes that share domains with RPS17           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for RPS17:
    40S ribosomal protein S17,15kDa

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome NAS17647292
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with RPS17           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for RPS17:
     Cytoplasmic 40S maturation def  Decreased viability  Increased S DNA content  Nucleolar pre-40S maturation d 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RPS17

    miRNA
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    hsa-mir-30a-5p (MIRT049945), hsa-mir-222-3p (MIRT046624), hsa-mir-320a (MIRT044696), hsa-mir-615-3p (MIRT039783), hsa-mir-30d-5p (MIRT047810), hsa-mir-16-5p (MIRT051166), hsa-mir-148a-3p (MIRT048036)

    Block miRNA regulation of human, mouse, rat RPS17 using miScript Target Protectors
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with RPS17           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RPS17 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1CFTR translational fidelity class I mutations
    CFTR translational fidelity class I mutations 0.60
    Ribosome0.54
    Cytoplasmic Ribosomal Proteins0.60
    2Influenza Viral RNA Transcription and Replication
    Viral mRNA Translation0.94
    Eukaryotic Translation Initiation0.89
    Peptide chain elongation0.94
    Cap-dependent Translation Initiation0.89
    Nonsense Mediated Decay Independent of the Exon Junction Complex0.94
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.89
    Formation of a pool of free 40S subunits0.94
    Nonsense-Mediated Decay0.89
    3Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
    Translation initiation complex formation0.91
    Ribosomal scanning and start codon recognition0.91
    Formation of the ternary complex, and subsequently, the 43S complex0.91
    Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S0.90
    4Gene Expression
    Gene Expression0.40
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30


    Find genes that share SuperPaths with RPS17           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for RPS17
        CFTR translational fidelity (class I mutations)

    1 BioSystems Pathway for RPS17
        Cytoplasmic Ribosomal Proteins


    Selected Reactome Pathways for RPS17 (see all 12)
        Peptide chain elongation
    Formation of the ternary complex, and subsequently, the 43S complex
    Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
    Viral mRNA Translation
    GTP hydrolysis and joining of the 60S ribosomal subunit


    1 Kegg Pathway  (Kegg details for RPS17):
        Ribosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPS17
    Interactions:

        Search GeneGlobe Interaction Network for RPS17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RPS17 (P087082, 3 ENSP000003460454) via UniProtKB, MINT, STRING, and/or I2D (see all 373)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPS16P622492, 3, ENSP000002514534MINT-8044024 I2D: score=1 STRING: ENSP00000251453
    MAP3K14Q995582, 3MINT-48887 I2D: score=2 
    ENSG00000096150P622693, ENSP000002113724I2D: score=3 STRING: ENSP00000211372
    ENSG00000223367P622693, ENSP000004125834I2D: score=3 STRING: ENSP00000412583
    ENSG00000226225P622693, ENSP000004031754I2D: score=3 STRING: ENSP00000403175
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000028ribosomal small subunit assembly IBA--
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0006364rRNA processing IMP18697920
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--

    Find genes that share ontologies with RPS17           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RPS17 (RS17)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RPS17 gene: 
    NM_001021.3  

    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330339(uc002bhr.1 uc021ssu.1) ENST00000560151 ENST00000559187
    ENST00000560826 ENST00000560977 ENST00000559636 ENST00000560084 ENST00000560652
    ENST00000559854 ENST00000560024
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat RPS17

    2925 AceView cDNA sequences (see top 24):

    BQ961732 BE277510 BQ689486 AA100259 BE259635 AW327844 AW197160 BM841531 
    BQ682440 BE018962 BU845076 BE407190 AI424764 BG291467 AA371531 BQ949434 
    BM918016 AI818016 CR618357 BQ959691 BG164256 BG754205 BG770424 BM551200 
    AI826747 AA583869 F24193 BG397571 BG281205 BE270134 BU153351 BE389882 
    BQ679779 BM557192 BF973254 AJ713716 CB111704 BU687786 BG756255 BU787660 
    BE390384 BE389594 BG335765 BF663531 BU164064 BU854822 BE279484 BE386715 
    BU789131 BC019899 BG686915 N29382 AW088896 AA306145 BG490655 AA301001 
    BQ440363 BM773168 BF683781 BM556313 BQ636665 BU859235 BG477805 BM809670 
    BQ688164 BQ072200 BF663516 BG686856 BM841490 CR612555 AI685482 AI804322 
    BQ682981 CF129105 BE276653 BG436757 BM760606 BQ640191 AA984956 BM008913 
    BU177959 AI770149 BM907968 CB121816 BU162681 BQ899097 BE256918 BG758868 
    BM856092 BQ949354 AW085555 AA181031 BP429843 F26559 BE263207 CB117446 
    AW732907 CD107662 AA301936 BG756563 BI083853 BF206114 BU071413 CR615408 
    BM788133 BE273924 BQ436185 BG684073 BM761843 AW850714 BM853425 AJ714240 
    BM845597 BE250270 CB113570 BE266126 AI685465 BF727297 BE901871 BM853852 
    BF795910 AW163296 BQ070359 BM788251 BE893362 BG422230 CD105295 BI194360 
    BG025256 BE296099 BE312108 CB265752 BM888403 T54312 CB155166 AW602582 
    BI254651 BI197301 CD105907 AW160429 BQ051596 CB109224 BG757919 BM787368 
    BI857211 BU930906 BQ876958 BG829894 BQ684363 AA357036 AA187482 BU175826 
    CB109632 AA112000 BE257074 BG767794 BF794220 BE901795 BQ231150 BC020453 
    BG338952 BE294800 BE389686 BC062715 BQ681767 BM760276 AA303775 AJ710727 
    BU152848 AA583102 AA296571 BM465031 AA661584 BG757851 BM755562 BE311589 
    BU948228 BM012797 BI195741 BI493340 CR609691 CN484802 BE298525 BU190528 
    BC049824 BQ683592 BQ918714 CR595559 BM773282 BU179425 AA339981 BG754334 
    AA343969 BM693718 BQ927052 BE294653 F26786 BM010080 BG754429 BG683278 
    BM840591 BG330942 F35607 AA468610 AW675793 F21567 AI431617 BQ952653 
    CR616208 AA329450 BF663470 BQ877894 BU781597 AA308283 AJ713878 BM740689 
    BE295613 CB117969 CD679476 BM700111 BU529097 AI199060 BU522020 BQ680766 
    F25924 BQ279030 BG398455 BU154735 BQ425599 BU855666 BM008726 BQ954229 
    BE742486 BG437682 BC071928 AA327346 BQ942805 AW732811 BG248398 BG774758 
    BM841260 BE276321 AV712492 BG760610 AV655777 BF309430 BM759105 CD675171 
    CB142512 BG116104 F30937 CR618328 AI685870 BE903086 BU737909 BI333948 
    BU153629 BG478307 BM841739 BM556569 F35543 CB109597 BG755344 BG490110 
    BM760628 AW105259 CN483079 CF619103 BX349453 BQ688569 BQ898885 AI707578 
    AW117871 BM766970 BG283491 BU540718 BU789551 BU190372 BQ926152 BM990526 
    BE729559 BM761761 BG829929 BG755484 BM852080 BG489554 BM841024 BM809315 
    BU176015 CB117997 BM841857 BQ954027 BM764388 BM552555 BE258343 BM830301 
    BG331698 BF971774 BG827693 CB133148 BM801762 BE906991 BQ880115 BM911798 
    BF205868 F35128 BG769006 BM011083 BU159247 BG758081 BU856594 AA612897 
    BM661881 BE301795 BE407286 BM762335 BF568214 BG341413 AV701678 BE394739 
    BQ787506 BQ073769 AL515643 CB140079 BU789620 BU165544 BG756701 BM913147 
    BM785473 BQ228784 BU150079 CK905078 N95257 AW732814 CB130753 BQ653023 
    BQ924757 BU943511 BM841177 NM_001021 BM550456 BG685640 BQ420566 BU185890 
    BU160699 BF664393 BF128903 AA687779 AJ712486 BE302689 BF036643 BI599988 
    BG753758 BG110526 F32131 BQ421161 BE273502 BI335815 W44918 BQ669873 
    BQ962750 CD673686 CA389959 T58433 AI499430 BF683784 BC009407 AI419450 
    BG025346 BG684735 BF976176 AI688985 CR602312 AI431296 BE563749 BQ130821 
    BQ687303 AW768245 BE881893 AI826436 BM450191 AI658674 BE277953 AV655759 
    BG756848 BQ939557 BQ933150 BE796548 CN484678 AA321583 BX391083 BM424194 
    BE280040 BQ069053 BE256639 BM841504 BF182785 AA372872 BE384845 BG755337 
    BE383859 BG333219 AW081847 BE902756 BE407171 BG489964 BU931914 BU163779 
    BF794386 BG827275 BG478391 BE873949 CB143996 BX374654 BU848870 BG478350 
    F22298 BE905890 BE796626 BE394814 AA159814 F19463 BQ685965 BF974836 
    AJ713354 AL524753 BM760610 CD675690 CB114289 BQ054079 W81391 BQ954231 
    BQ691933 BG341437 BQ894297 BE385915 BF219696 BE256535 BQ949090 BM772297 
    BM512300 BG818710 BM051340 BU175479 BE295330 BG472362 AA135090 AA852123 
    BQ942781 BM760477 AW512342 BQ130567 BQ954838 BE277421 BQ675511 BQ678752 
    F27701 BE391134 BG824782 BM841150 BF475644 BU859291 BQ057917 BQ278865 
    BP870831 BM838345 BG709587 BF686444 BQ955149 AA329349 BG576237 BF203479 
    BE879788 BM811085 BG489040 BC022370 BM454338 BF221750 BG438161 AL047809 
    AA730537 BU957568 BG338021 BG474678 BI261665 BI086631 BG488961 BU558150 
    BU538440 BM855533 H87124 BG386354 BG025621 BQ073482 AI654263 AJ715190 
    BE902853 BG751948 BQ652132 BG747044 AA659051 BM048576 F16778 AW337403 
    BF183175 BG329839 BG397900 BU148517 BU538330 BX391082 BU538165 BG655485 
    BF726321 BE728873 BQ676928 BM476379 BQ957646 BF176151 BF688755 CB107437 
    AA558009 BG437644 AW518438 BE280508 BM914080 BF975800 AA311747 BQ070263 
    BG759320 BE261978 BE904114 BG330628 BM914888 BU844997 BQ072092 BF975325 
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    AJ713455 F20224 BF664210 BQ932871 BQ062033 BQ683717 CD389430 AA661872 
    AA548898 CD386408 BM923178 BP342214 BU858156 BM558915 BG684198 AA095622 
    CD388169 CF122685 CA337444 AA506679 AA354781 BG771982 AA659583 BF331539 
    BP379747 CD385671 CD387900 BQ876172 AA773244 CD172958 BQ060112 AA526815 
    BM048211 BX395300 BE531302 AJ714481 BQ672550 BQ053330 BU588352 AW152518 
    BE408860 CF124297 BG395609 BM915031 AJ714502 CD385764 BG490733 AA714979 
    BF594916 CD247758 BU196689 BE277994 BI833348 CF122642 BM542996 BF662987 
    AJ715069 BQ944323 BQ669427 CF124020 AI399878 BQ061165 AA483390 AJ712566 
    BF973513 BM809956 CA337527 CD388129 AA744281 CD105463 CD176481 BQ918246 
    BE531167 CD388968 CD174068 CD174936 CD386844 BM554039 BE301354 CD388365 
    CD390171 CD176503 AA559228 CD386124 BE274058 BE731993 CD386123 CD249636 
    BI600916 BG177262 AA155866 BM557487 BU596477 F23549 CD176170 BF245836 
    CD174289 CD386892 BU589447 CD385345 CD249867 AA031755 BG397502 BE789283 
    CD386606 D20891 AA559338 AA186859 AA385226 CD386867 CD386193 N84542 
    CD172854 CD389218 BF173357 AV759671 AI762814 BG491765 BU565550 CD556029 
    CD173038 CF124078 CD175268 BG519798 AW970048 CD173119 CF780521 BI254913 
    BQ957824 BG684974 BG490890 CD387188 BM790466 CD389306 CD387891 AA167246 
    CD176365 CD174040 AA091567 BQ372957 AA339893 CD387671 CF123501 BI481321 
    AA630907 BG755153 BG616267 AA879172 BE094055 CD173618 BG034564 AA873657 
    AA187090 CD174583 CD174119 CD247294 AA297897 CD174265 CD173544 BG106827 
    BE771972 CD388699 BP872245 CD389177 CD387331 BE838488 CD172642 CD174677 
    AA306390 BI818877 CD248623 AJ715169 AA316346 CD384845 CD248329 AI907724 
    CD174594 AI869198 BG900787 CD385623 D56973 CD250341 BE395977 BF684723 
    BE771995 BQ028635 CD388470 AI306144 AA935024 AA592972 BE515043 CD174646 
    AV739971 AI253523 F33904 AJ710241 BQ057604 BF699208 AA533415 CD384949 
    BQ049993 CD390267 CD385680 AA558745 BM801614 BE409225 BE877510 BE735674 
    BQ650693 AI682182 AA661561 BF026478 CD173243 BQ222096 CD387086 CD389646 
    CD388505 BF381574 AA155895 CD246863 CD556077 CD247195 CD176060 AA146887 
    BF203644 BQ057782 CD177268 CD175331 BM824316 CD177498 CD246661 CD385166 
    CD385274 CD175380 CD556369 BQ896074 BE385271 BI910335 CD386334 BM557478 
    BE838492 CD175207 BU500913 AI351130 AA135228 CD387675 BE384629 BM834066 
    CD175432 BI599193 BG480189 AA092967 AI266116 CD249555 CD386922 AA320906 
    CD177596 CD385402 CD248230 BE260668 BM469152 CD177248 BE280064 BP379754 
    CD246901 CD177436 CF995300 CD176169 CD175637 CD386267 CD387138 AA469328 
    CD386328 AA617717 CD177347 AA653883 BE267729 CD386902 CD175338 BU854721 
    CD386841 BE901261 CD387851 CD385141 AA552791 AA507515 CD555936 BE298317 
    BU175446 BU596245 CD386113 CD386222 BU540242 AV756790 D57028 CD385098 
    CD389335 F22457 BE559621 BF206334 T03919 CD247077 BG470557 BG702201 
    AA319418 CD174853 CD174001 CD247131 AV742844 BU589475 BI334307 BG152976 
    CD386906 BG397919 BE301376 AA559946 BG878452 AW583000 N85429 AA327939 
    AA603253 BM793748 AA569454 BM463542 BG424131 CD177629 AA947382 AI284582 
    BE905390 AA090578 BG475391 AA557832 BU566016 D17278 BM825263 AW275163 
    AA301805 CD386223 AW392185 AA903378 BF476541 AA834715 BF222006 AA558292 
    CD247000 BE731594 CD388109 BG611061 CD175371 H87136 BG502735 AJ705161 
    BP870813 AA938479 BE545831 BQ421744 AA491897 CD175004 D52611 T55816 
    BF244424 CA338086 BI521261 BQ440614 AA320859 AA552867 BM912236 BI457711 
    BG755790 AW103787 BU537672 AV760421 F28377 BE513471 BI093590 BU603397 
    CD248086 AA569712 BE818745 BQ421793 CK128652 BF690059 BG396710 BE091153 
    BG531612 BU599539 BF240209 BF025699 BF684907 AA578457 BU598352 W39565 
    AA579446 BG686040 BE298213 D19803 C14003 D55082 BE407588 BF663475 
    BG190344 CD389188 N85467 BQ439011 W24496 BG332910 BF127417 BU935079 
    BF683287 CB107273 BV202674 BF819101 AA962607 BG769588 BM465855 CD384972 
    CD388227 BX401763 AA778088 CB997602 BU854538 BU955139 BU596809 AV706474 
    AU099768 BE731975 AA318965 CD177323 AW089727 AI580754 T28929 AW572649 
    BG291004 BE771973 BI193703 BE408339 BG488849 AA630994 BQ372958 BE881077 
    BU860732 BI906390 AA492433 BF792115 W24027 BG340334 BE407613 BM562505 
    BI868428 CD173981 BE734969 CD249934 CD390135 BG285654 BQ222422 CD388941 
    BG684514 AV751480 BG496920 BG281882 BF663862 BF238036 BF034141 CD248091 
    BE280089 BE392604 BE905726 BF329955 BE301323 BE818716 BQ056991 BG164942 
    BM911212 BG499466 BF211491 BE694003 N64055 BF686275 BF975610 BQ687463 
    BG498827 CD246968 BQ678679 AA828863 CD385271 BE257170 BG328210 BM014785 
    BE250796 BG329907 BG337851 BE736166 AA858143 CD387035 BI457498 AV707055 
    BG110660 BE296964 AV697308 BG758126 N88615 BG340745 CB984858 BU954493 
    BU172990 BI754807 BI836057 AA627190 CD389237 BF681353 AA922446 BG180316 
    BU933286 BF976105 BI761824 BE621021 BM015885 BG878451 AV735630 BE389646 
    AA524770 BE903025 F34812 BI909681 BG329015 BQ226741 BF128734 BG282705 
    BG290072 BI198479 AV760907 BU564237 BI029521 CD174356 BE271477 BE732348 
    BG481014 BG762446 BU959868 BI199658 BI759836 BG119329 BG774725 AA559907 
    BG398181 BG331902 BE731291 BE280680 AA662567 BG281237 BE383933 CA748848 
    BF312601 BE276650 BF663558 BI762604 CD388035 BE313309 CD389986 BG613492 
    BF976060 BG501224 BF975552 BG472703 BG533661 BG478080 BM841668 AA304646 
    BG474699 BG469819 BG387102 BE271774 H94369 BF699947 BX399590 BF308295 
    BG686171 BE379113 BE409226 BE744562 BM914962 AV736787 BE746686 BF797828 
    BE265734 BG758907 BG114990 CF124909 BF980991 BI754918 BE789883 BF311336 
    BU941298 BI087505 BI763497 BG332480 CD388346 BG169951 BG031308 AI440310 
    BI822826 BE615422 BF209648 AV705648 BG397603 BF664186 BG281793 BG341051 
    BF182827 BG033132 BM912937 BF103905 AA658859 BQ278513 BE731089 BI856118 
    BF976579 BM797671 BE818739 BI856536 CD246308 CD387196 BE390840 BF791682 
    AV698400 AI220666 BE278723 BG831674 BI089254 CD173273 BG437587 BE275175 
    BG491548 BG341517 AV711696 BQ312017 BG335384 BG766552 AA094178 AA096069 
    BI856924 AA635747 BG753659 CD177654 BG682179 BG779740 BG394696 AW674251 
    BM465151 BE880653 AA747156 BE694784 BG473593 BF104109 BF664287 BG024742 
    BG387098 BG765090 BG760073 BE386897 CD177366 BG339748 BG339822 BU960442 
    BU599263 BG107475 BF241440 AV715580 BI257148 AI582473 AV764466 BG330821 
    CD387087 BG831406 BE271834 BG281659 BE729651 N87566 CD389302 CD389519 
    BU587219 AJ714750 AA640276 BF375458 F37881 AA186435 BQ065417 CD048017 
    BF372970 AA527955 AW409743 AA595310 CD174561 AW157324 BU537291 BF239298 
    AI826819 CD247851 AW157323 AA557884 BE260452 BG421719 AW949699 BE900219 
    AA091203 N85502 BF310146 CD248661 CD175479 BE772932 AV759312 BE771954 
    BG755061 AV756654 AA736539 D57108 BE252660 BE737775 AV758182 CD556024 
    BE313155 BF127884 BF237841 BG479543 BI769479 CD386990 BF244466 BE281517 
    BE567392 BE277128 BE298132 AV738610 BF131674 BE818719 BG329344 BE744269 
    BG281544 BE732087 BI194969 CD247154 BG330994 BM006596 BE732576 BE737266 
    BE279967 BG331875 CD050080 BG028962 BU553221 BF127774 BQ228431 BU557830 
    BG331330 AV702378 BE278007 BE393827 BE902086 BG490185 BE730742 CD390150 
    BU158533 BE293899 BE258128 AV711300 BF129088 AI434756 BG751206 AA186344 
    AJ712493 BG473809 BG397073 BE268358 AA773652 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    RPS17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCGCGTTC
    RPS17 Expression
    About this image


    RPS17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Endoderm (Gastrulation Derivatives)
             Endoderm-like cells
     
     Tonsil (Hematopoietic System)
    RPS17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPS17 Protein Expression
        Custom PCR Arrays for RPS17
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RPS17
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RPS17
    QuantiTect SYBR Green Assays in human, mouse, rat RPS17
    QuantiFast Probe-based Assays in human, mouse, rat RPS17
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS17

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPS17 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rps171 , 5 ribosomal protein S171, 5 89.14(n)1
    99.26(a)1
      7 (45.71 cM)5
    200681  NM_009092.31  NP_033118.11 
     813427325 
    chicken
    (Gallus gallus)
    Aves RPS17L1 ribosomal protein S17-like 83.95(n)
    98.52(a)
      374053  NM_204217.1  NP_989548.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    99(a)
    1 → many
    GL343479.1(636199-639072)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.83372 Xenopus laevis transcribed sequence with strong similarity more 79.49(n)    CB943667.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ418878.12   -- 83(n)    BQ418878.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RpS173 protein biosynthesis structural
    constituent of more
    79(a)   3 67B4   --
    worm
    (Caenorhabditis elegans)
    Secernentea rps-171 , 3 40S ribosomal protein S173
    rps-171
    71(a)3
    69.49(n)1
    73.73(a)1
      I(6228214-6228815)3
    1723131  NM_059394.51  NP_491795.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPS17B(YDR447C)4
    RPS17A1
    Ribosomal protein 51 (rp51) of the small (40s) subunit; more4
    RPS17A1
    63.61(n)1
    69.72(a)1
      4(1355553-1354829)4
    8549841  NP_013688.11  8520584 
     NP_010735.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G052201 AT2G05220 58.2(n)
    62.7(a)
      815070  NM_126548.4  NP_565320.1 
    rice
    (Oryza sativa)
    Liliopsida Os.463712 Transcribed sequence with weak similarity to protein more 71.13(n)    CB966919.1 


    ENSEMBL Gene Tree for RPS17 (if available)
    TreeFam Gene Tree for RPS17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for RPS17 gene
    RPS17L2  
    2 SIMAP similar genes for RPS17 using alignment to 2 protein entries:     RS17_HUMAN (see all proteins):
    RPS17L    LOC392101

    Find genes that share paralogs with RPS17           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for RPS17 (see all 26)
    PGOHUM00000242480 PGOHUM00000247171 PGOHUM00000237351 PGOHUM00000244323 PGOHUM00000262142


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for RPS17 (see all 12)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1168408111,2
    Cpathogenic182824835(-) CAACAG/TGGTAG 2 R M mis10--------
    rs10437341,2,4
    ----see VAR_0344782 mis40--------
    rs1422623041,2
    ----82823390(+) GTGACA/GTAACT 2 Y syn10--------
    rs1476951121,2
    ----82825597(+) TCAGGC/TACCTT 1 -- us2k10--------
    rs1488102471,2
    ----82822408(+) GCAGGC/GAGATT 1 -- int10--------
    rs1168408121,2
    --pathogenic182823348(-) AGTAA-/GAGGTAT 2 Y G fra10--------
    rs1404537001,2
    ----82823466(+) ATGTGC/GATATA 1 -- int10--------
    rs1470557891,2
    ----82823632(+) CCCCCA/CACTCG 1 -- int10--------
    rs1412937301,2
    ----82826010(+) TTTTTG/TTTTTT 1 -- us2k10--------
    rs3687419661,2
    ----82824697(+) GGAAGC/TGCCGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for RPS17 (82821158 - 82824972 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RPS17 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33165CNV Loss17666407
    nsv510669CNV Loss20534489
    nsv483125CNV Loss15286789
    nsv428309CNV Gain18775914
    nsv833071CNV Gain17160897
    nsv904446CNV Gain21882294
    nsv471686CNV Gain+Loss15918152
    esv21531CNV Gain+Loss19812545
    nsv9285CNV Gain+Loss18304495
    esv22027CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): RPS17
    Locus Specific Mutation Databases (LSDB): RPS17

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing RPS17
    DNA2.0 Custom Variant and Variant Library Synthesis for RPS17

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 180472   
    OMIM disorders: 612527  
    UniProtKB/Swiss-Prot: RS17_HUMAN, P08708
  • Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: 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

  • 6 diseases for RPS17:    
    About MalaCards
    rps17-related diamond-blackfan anemia    diamond-blackfan anemia 4    hepatitis e    diamond-blackfan anemia
    diamond-blackfan anemia 1    reactive arthritis

    1 disease from the University of Copenhagen DISEASES database for RPS17:
    Aplastic anemia

    Find genes that share disorders with RPS17           About GenesLikeMe

    GeneTests: RPS17
    GeneReviews: RPS17
    Genetic Association Database (GAD): RPS17
    Human Genome Epidemiology (HuGE) Navigator: RPS17 (2 documents)

    Export disorders for RPS17 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RPS17 gene, integrated from 10 sources (see all 69):
    (articles sorted by number of sources associating them with RPS17)
        Utopia: connect your pdf to the dynamic
    world of online information

    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, 9 Filipenko M.L....Mertvetsov N.P. (Bioorg. Khim. 1995)
    2. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (PubMed id 20378560)1, 4 Konno Y....Ito E. (Haematologica 2010)
    3. 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. (Am. J. Hum. Genet. 2008)
    4. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. (PubMed id 17647292)1, 2 Cmejla R.... Pospisilova D. (Hum. Mutat. 2007)
    5. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)1, 2 Zody M.C....Nusbaum C. (Nature 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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. (Genome Res. 2004)
    8. 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. (Eur. J. Biochem. 1996)
    9. 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. (Genomics 1992)
    10. The transcriptionally active human ribosomal protein S17 gene. (PubMed id 3240863)1, 2 Chen I.-T. and Roufa D.J. (Gene 1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 6218 HGNC: 10397 AceView: RPS17 Ensembl:ENSG00000184779 euGenes: HUgn6218
    ECgene: RPS17 Kegg: 6218 H-InvDB: RPS17

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RPS17 Pharmacogenomics, SNPs, Pathways
    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 LifeMap Sciences, Inc.)
    About This Section

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    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 from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for RPS17  
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     Block miRNA regulation of human, mouse, rat RPS17 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RPS17
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPS17 Predesigned siRNA for gene silencing in human, mouse, rat RPS17
     QuantiFast Probe-based Assays in human, mouse, rat RPS17 QuantiTect SYBR Green Assays in human, mouse, rat RPS17
     Custom PCR Arrays for RPS17 Search Chromatin IP Primers for RPS17
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RPS17  Search GeneGlobe Interaction Network for RPS17
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     Search Tocris compounds for RPS17 (RS17)
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     Novus Tissue Slides
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     Browse ESI BIO Cell Lines and PureStem Progenitors for RPS17
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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPS17
     Browse compounds at ApexBio
     Search Addgene for plasmids for RPS17
      Search eBioscience for proteins for RPS17
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      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for RPS17
     antibodies-online antibodies for RPS17 (19 products)
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