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RPS7 Gene

protein-coding   GIFtS: 65
GCID: GC02P003622

Ribosomal Protein S7

  See RPS7-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ribosomal Protein S71 2
DBA82 5
40S Ribosomal Protein S72
S72

External Ids:    HGNC: 104401   Entrez Gene: 62012   Ensembl: ENSG000001718637   OMIM: 6036585   UniProtKB: P620813   
ORGUL members:         

Export aliases for RPS7 gene to outside databases

Previous GC identifers: GC02P003100 GC02P003265 GC02P003187 GC02P003116 GC02P003600 GC02P003564


(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 RPS7 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 S7E 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 RPS7 Gene:
RPS7 (ribosomal protein S7) is a protein-coding gene. Diseases associated with RPS7 include rps7-related diamond-blackfan anemia, and diamond-blackfan anemia. GO annotations related to this gene include structural constituent of ribosome and RNA binding.

UniProtKB/Swiss-Prot: RS7_HUMAN, P62081
Function: Required for rRNA maturation

Gene Wiki entry for RPS7 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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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005334.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPS7 gene promoter:
         STAT5B   GR   GR-beta   IRF-1   STAT5A   YY1   E2F   E2F-1   SEF-1 (1)   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPS7 promoter sequence
   Search Chromatin IP Primers for RPS7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPS7


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

Entrez Gene cytogenetic band: 2p25   Ensembl cytogenetic band:  2p25.3   HGNC cytogenetic band: 2p25

RPS7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPS7 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P003622:  view genomic region     (about GC identifiers)

Start:
3,622,795 bp from pter      End:
3,628,509 bp from pter
Size:
5,715 bases      Orientation:
plus 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: RS7_HUMAN, P62081 (See protein sequence)
Recommended Name: 40S ribosomal protein S7  
Size: 194 amino acids; 22127 Da
Subunit: Binds IPO9 with high affinity. Interacts with NEK6
1 PDB 3D structure from and Proteopedia for RPS7:
3J3A (3D)    
Secondary accessions: P23821 P24818 Q57Z92 Q6IPH1

Explore the universe of human proteins at neXtProt for RPS7: NX_P62081

Explore proteomics data for RPS7 at MOPED

Post-translational modifications: 

  • Phosphorylated by NEK61
  • Ubiquitination2 at Lys15, Lys49, Lys74, Lys85, Lys90, Lys142, Lys179, Lys183
  • Modification sites at PhosphoSitePlus

  • See RPS7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001002.1  
    ENSEMBL proteins: 
     ENSP00000339095   ENSP00000385729   ENSP00000385018   ENSP00000385286  
    Reactome Protein details: P62081

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    antibodies-online proteins for RPS7 (17 products) 

     
    antibodies-online peptides for RPS7

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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

    1 InterPro protein domain:
     IPR000554 Ribosomal_S7e

    Graphical View of Domain Structure for InterPro Entry P62081

    ProtoNet protein and cluster: P62081

    UniProtKB/Swiss-Prot: RS7_HUMAN, P62081
    Similarity: Belongs to the ribosomal protein S7e family


    Find genes that share domains with RPS7           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:

         UniProtKB/Swiss-Prot Summary: RS7_HUMAN, P62081
    Function: Required for rRNA maturation

         Genatlas biochemistry entry for RPS7:
    40S ribosomal protein S7,22kDa

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding NAS8522193
    GO:0003735structural constituent of ribosome IEA--
    GO:0005515protein binding IPI11823430
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with RPS7           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for RPS7:
     Decreased Hepatitis C virus re  Decreased viability  Decreased viability of wild-ty  Increased S DNA content 
     Nucleolar pre-40S maturation d  S arrest 

         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rps7):
     behavior/neurological  cellular  embryogenesis  growth/size/body  hematopoietic system 
     integument  limbs/digits/tail  mortality/aging  nervous system  pigmentation 
     skeleton  vision/eye 

    Find genes that share phenotypes with RPS7           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RPS7

    miRNA
    Products:
        
    miRTarBase miRNAs that target RPS7:
    hsa-mir-1260b (MIRT052715), hsa-mir-34a-5p (MIRT047379), hsa-mir-378c (MIRT052830), hsa-mir-30e-5p (MIRT044154), hsa-mir-378a-3p (MIRT043948), hsa-mir-181b-5p (MIRT047249), hsa-mir-21-5p (MIRT000168), hsa-mir-941 (MIRT036576), hsa-mir-31-5p (MIRT049859), hsa-mir-422a (MIRT042652), hsa-mir-221-3p (MIRT046934), hsa-mir-186-5p (MIRT045061), hsa-mir-24-3p (MIRT050365), hsa-mir-125b-5p (MIRT045957)

    Block miRNA regulation of human, mouse, rat RPS7 using miScript Target Protectors
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS7


    (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 UniProtKB/Swiss-Prot
    RS7_HUMAN, P62081: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Colocalizes with
    NEK6 in the centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    nucleus5
    chloroplast2

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA11823430
    GO:0005737cytoplasm IDA--
    GO:0005815microtubule organizing center IEA--

    Find genes that share ontologies with RPS7           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 RPS7 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 RPS7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for RPS7
        CFTR translational fidelity (class I mutations)

    1 BioSystems Pathway for RPS7
        Cytoplasmic Ribosomal Proteins


    Selected Reactome Pathways for RPS7 (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 RPS7):
        Ribosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPS7
    Interactions:

        GeneGlobe Interaction Network for RPS7

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

    Selected Interacting proteins for RPS7 (P620811, 2, 3 ENSP000003390954) via UniProtKB, MINT, STRING, and/or I2D (see all 585)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPS6P627532, 3, ENSP000003697574MINT-6542674 MINT-6488590 MINT-6488791 I2D: score=2 STRING: ENSP00000369757
    RPL11P629132, 3, ENSP000003636764MINT-6542674 MINT-6488590 MINT-6488791 I2D: score=1 STRING: ENSP00000363676
    RPL13P263732, 3, ENSP000003078894MINT-6542674 MINT-6488590 MINT-6488791 I2D: score=1 STRING: ENSP00000307889
    RPL26P612542, 3, ENSP000002938424MINT-6542674 MINT-6488590 MINT-6488791 I2D: score=1 STRING: ENSP00000293842
    RPL7P181242, 3, ENSP000003397954MINT-6542674 MINT-6488590 MINT-6488791 I2D: score=1 STRING: ENSP00000339795
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0006364rRNA processing IMP18697920
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--
    GO:0006414translational elongation TAS--

    Find genes that share ontologies with RPS7           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
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    Browse Tocris compounds for RPS7 (RS7)



    (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 RPS7 gene: 
    NM_001011.3  

    Unigene Clusters for RPS7:

    Ribosomal protein S7
    Hs.534346  [show with all ESTs], Hs.546287  [show with all ESTs], Hs.646582  [show with all ESTs]
    Unigene Representative Sequences: BM478334, AK125306, BQ069374
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304921(uc002qxw.3) ENST00000407445 ENST00000462576 ENST00000403564
    ENST00000491937 ENST00000406376 ENST00000481006(uc002qxx.3) ENST00000479123
    ENST00000472966(uc002qxy.3)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat RPS7

    Additional mRNA sequence: X74803.1 

    Selected DOTS entries (see all 56):

    DT.100857088  DT.91776579  DT.95291189  DT.91739621  DT.95290513  DT.86993356  DT.95290617  DT.95290443 
    DT.95290599  DT.120982752  DT.402704  DT.452480  DT.91722702  DT.100060096  DT.100052605  DT.121008067 
    DT.86844168  DT.121008030  DT.95209146  DT.95290511  DT.121008026  DT.121008044  DT.95290515  DT.121008041 

    Selected AceView cDNA sequences (see all 1551):

    BQ654312 CK128792 AA583072 AI027939 BG766416 CD389080 AW327857 BM549670 
    AA300665 CA309704 BQ227914 BX377544 BQ008476 BM811121 CB123735 AA362053 
    AW327670 BQ631849 AA355762 BQ722116 AJ714662 BE615645 CD679309 CK128815 

    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)
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    RPS7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCGTCTTTAT
    RPS7 Expression
    About this image


    RPS7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Ovary (Reproductive System)
             Ovarian Somatic Cells Ovigerous Cord
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             Cerebellum
    RPS7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPS7 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.534346 Hs.546287 Hs.646582
        Custom PCR Arrays for RPS7
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS7

    (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 RPS7 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rps71 , 5 ribosomal protein S71, 5 90.38(n)1
    100(a)1
      12 (10.99 cM)5
    201151  NM_011300.31  NP_035430.11 
     286308475 
    chicken
    (Gallus gallus)
    Aves RPS71 ribosomal protein S7 84.71(n)
    99.48(a)
      421919  XM_004940516.1  XP_004940573.1 
    lizard
    (Anolis carolinensis)
    Reptilia RPS76
    ribosomal protein S7
    99(a)
    1 ↔ 1
    GL343342.1(1126304-1140960)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC041282.12   -- 83.08(n)    BC041282.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc732162 hypothetical protein MGC73216 81.95(n)   393725  BC059562.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18833
    RpS71
    protein biosynthesis structural
    constituent of more3
    Ribosomal protein S71
    73(a)3
    66.67(n)1
    73.02(a)1
      99E23
    435941  NM_206589.11  NP_996312.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rps-71 , 3 40S ribosomal protein S73
    rps-71
    60(a)3
    61.44(n)1
    60.54(a)1
      I(10338787-10339845)3
    1729011  NM_060307.31  NP_492708.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPS7A(YOR096W)4
    RPS7B1
    Protein component of the small (40S) ribosomal subunit, more4
    RPS7B1
    57.12(n)1
    53.51(a)1
      15(505794-506767)4
    8556281  NP_014303.31  8542634 
     NP_014739.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G488301 AT1G48830 58.78(n)
    55.38(a)
      841305  NM_103777.3  NP_175314.1 
    rice
    (Oryza sativa)
    Liliopsida AK059192.12   -- 72.42(n)    AK059192.1 


    ENSEMBL Gene Tree for RPS7 (if available)
    TreeFam Gene Tree for RPS7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPS7 gene

    Find genes that share paralogs with RPS7           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for RPS7 (see all 20)
    PGOHUM00000238563 PGOHUM00000237095 PGOHUM00000237484 PGOHUM00000234118 PGOHUM00000244064


    (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)
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    Selected SNPs for RPS7 (see all 219)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1507246511,2
    --3594122(+) ACATCC/TATTCA 1 -- us2k10--------
    rs761187781,2
    C,F--3594145(+) ATTTTT/GTATTT 1 -- us2k13Minor allele frequency- G:0.10WA NA NS 368
    rs1394317391,2
    --3594155(+) TATATA/CTTTTT 1 -- us2k10--------
    rs2005457721,2
    C--3594155(+) TTATA-/ATTTTT 1 -- us2k10--------
    rs1814847761,2
    C--3594277(+) GTAGCC/TGGGAC 1 -- us2k10--------
    rs1863829251,2
    --3594293(+) GCGCCA/CGCCAC 1 -- us2k10--------
    rs1892067271,2
    C--3594423(+) ACAGGA/CGTGAG 1 -- us2k10--------
    rs1435619171,2
    --3594552(+) AAAGAC/TTGAAT 1 -- us2k10--------
    rs780611171,2
    C,F--3594575(+) AGATGG/CAGAAC 1 -- us2k13Minor allele frequency- C:0.03NA EA NS 382
    rs1435227661,2
    C--3594646(+) TTTAA-/TTTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RPS7 (3622795 - 3628509 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RPS7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873590CNV Loss21882294
    nsv873591CNV Gain21882294

    Human Gene Mutation Database (HGMD): RPS7
    Locus Specific Mutation Databases (LSDB): RPS7

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPS7
    DNA2.0 Custom Variant and Variant Library Synthesis for RPS7

    (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: 603658   
    OMIM disorders: 612563  
    UniProtKB/Swiss-Prot: RS7_HUMAN, P62081
  • Diamond-Blackfan anemia 8 (DBA8) [MIM:612563]: 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for RPS7:    
    About MalaCards
    rps7-related diamond-blackfan anemia    diamond-blackfan anemia    diamond-blackfan anemia 8    diamond-blackfan anemia 1
    frontal lobe epilepsy

    1 disease from the University of Copenhagen DISEASES database for RPS7:
    Diamond-Blackfan anemia

    Find genes that share disorders with RPS7           About GenesLikeMe

    GeneTests: RPS7
    GeneReviews: RPS7

    Export disorders for RPS7 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 RPS7 gene, integrated from 10 sources (see all 96):
    (articles sorted by number of sources associating them with RPS7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human ribosomal protein S7-encoding gene: isolation, structure and localization in 2p25. (PubMed id 8522193)1, 2, 3 Annilo T.... Metspalu A. (Gene 1995)
    2. Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome. (PubMed id 20873783)1, 2 Vaz Meirelles G.... Kobarg J. (J. Proteome Res. 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. Importins fulfill a dual function as nuclear import receptors and cytoplasmic chaperones for exposed basic domains. (PubMed id 11823430)1, 2 Jaekel S.... Goerlich D. (EMBO J. 2002)
    7. Mapping subunit contacts in the regulatory complex of the 26 S proteasome. S2 and S5b form a tetramer with ATPase subunits S4 and S7. (PubMed id 10625621)1, 3 Gorbea C....Rechsteiner M. (J. Biol. Chem. 2000)
    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. Ribosomal protein S7 is both a regulator and a substrate of MDM2. (PubMed id 19683495)1, 9 Zhu Y....Prives C. (Mol. Cell 2009)
    10. Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function. (PubMed id 17310983)1, 9 Chen D....Zhang R. (Oncogene 2007)

    (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)
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    Entrez Gene: 6201 HGNC: 10440 AceView: RPS7 Ensembl:ENSG00000171863 euGenes: HUgn6201
    ECgene: RPS7 Kegg: 6201 H-InvDB: RPS7

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for RPS7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RPS7 gene:
    Search GeneIP for patents involving RPS7

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



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