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RPL5 Gene

protein-coding   GIFtS: 70
GCID: GC01P093297

Ribosomal Protein L5

  See 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 L51 2
DBA62 5
60S Ribosomal Protein L52
L52

External Ids:    HGNC: 103601   Entrez Gene: 61252   Ensembl: ENSG000001224067   OMIM: 6036345   UniProtKB: P467773   

Export aliases for RPL5 gene to outside databases

Previous GC identifers: GC01P093703 GC01P092503 GC01P092635 GC01P092769 GC01P093009


(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 RPL5 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 60S subunit. The protein belongs to the L18P family
of ribosomal proteins. It is located in the cytoplasm. The protein binds 5S rRNA to form a stable complex called
the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated
cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The protein interacts specifically with the
beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent
normal tissues has been observed, although no correlation between the level of expression and the severity of the
disease has been found. This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in
its fifth intron. 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 RPL5 Gene:
RPL5 (ribosomal protein L5) is a protein-coding gene. Diseases associated with RPL5 include rpl5-related diamond-blackfan anemia, and diamond-blackfan anemia 6. GO annotations related to this gene include RNA binding and 5S rRNA binding.

UniProtKB/Swiss-Prot: RL5_HUMAN, P46777
Function: Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA

Gene Wiki entry for RPL5 (Ribosomal protein L5) 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:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPL5 gene promoter:
         AREB6   Elk-1   E2F   E2F-1   AML1a   HOXA5   MyoD   Msx-1   Tal-1beta   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPL5 promoter sequence
   Search Chromatin IP Primers for RPL5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPL5


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

Entrez Gene cytogenetic band: 1p22.1   Ensembl cytogenetic band:  1p22.1   HGNC cytogenetic band: 1p22.1

RPL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPL5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P093297:  view genomic region     (about GC identifiers)

Start:
93,297,582 bp from pter      End:
93,307,481 bp from pter
Size:
9,900 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RL5_HUMAN, P46777 (See protein sequence)
Recommended Name: 60S ribosomal protein L5  
Size: 297 amino acids; 34363 Da
1 PDB 3D structure from and Proteopedia for RPL5:
3J3B (3D)    
Secondary accessions: Q32LZ3 Q53HH6 Q9H3F4

Explore the universe of human proteins at neXtProt for RPL5: NX_P46777

Explore proteomics data for RPL5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys5, Lys27, Lys164, Lys197, Lys221
  • Modification sites at PhosphoSitePlus

  • See RPL5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000960.2  
    ENSEMBL proteins: 
     ENSP00000359345   ENSP00000473675   ENSP00000359338  
    Reactome Protein details: P46777

    RPL5 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for RPL5


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

    3 InterPro protein domains:
     IPR005484 Ribosomal_L18/L5
     IPR005485 Rbsml_L5_euk/L18_arc
     IPR025607 Rbsml_L5e/L18P_C

    Graphical View of Domain Structure for InterPro Entry P46777

    ProtoNet protein and cluster: P46777

    2 Blocks protein domains:
    IPB005484 Ribosomal protein L18P/L5E
    IPB005485 Ribosomal protein L5 signature


    UniProtKB/Swiss-Prot: RL5_HUMAN, P46777
    Similarity: Belongs to the ribosomal protein L18P family


    RPL5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RL5_HUMAN, P46777
    Function: Required for rRNA maturation and formation of the 60S ribosomal subunits. This protein binds 5S RNA

         Genatlas biochemistry entry for RPL5:
    60S ribosomal protein L5

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS7772601
    GO:0003735structural constituent of ribosome NAS12962325
    GO:0005515protein binding IPI12054647
    GO:00080975S rRNA binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    RPL5 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for RPL5:
     Decreased G3BP1 protein expres  Decreased viability  Decreased viability of wild-ty  Increased S DNA content 
     Nuclear 60S biogenesis defects  Nucleolar pre-40S maturation d  Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPL5
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    miRNA
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    miRTarBase miRNAs that target RPL5:
    hsa-mir-93-3p (MIRT038731), hsa-mir-16-5p (MIRT031631), hsa-mir-100-5p (MIRT048387), hsa-mir-615-3p (MIRT040235), hsa-mir-186-5p (MIRT045009), hsa-mir-484 (MIRT041938), hsa-mir-328-3p (MIRT043744), hsa-mir-182-5p (MIRT047180)

    Block miRNA regulation of human, mouse, rat RPL5 using miScript Target Protectors
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    GenScript: all cDNA clones in your preferred vector: RPL5 (NM_000969)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPL5

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPL5


    (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
    RL5_HUMAN, P46777: Cytoplasm. Nucleus, nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    chloroplast1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA9687515
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    RPL5 for ontologies           About GeneDecksing


    (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 RPL5 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
    3Gene Expression
    Gene Expression0.40
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    5p53 pathway
    p53 pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for RPL5
        CFTR translational fidelity (class I mutations)

    2 BioSystems Pathways for RPL5
        Cytoplasmic Ribosomal Proteins
    p53 pathway


    Selected Reactome Pathways for RPL5 (see all 9)
        Peptide chain elongation
    Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
    Viral mRNA Translation
    GTP hydrolysis and joining of the 60S ribosomal subunit
    SRP-dependent cotranslational protein targeting to membrane


    1 Kegg Pathway  (Kegg details for RPL5):
        Ribosome


    RPL5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPL5
    Interactions:

        GeneGlobe Interaction Network for RPL5

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

    Selected Interacting proteins for RPL5 (P467771, 2, 3 ENSP000003593454) via UniProtKB, MINT, STRING, and/or I2D (see all 723)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206406P678702, 3MINT-62613 MINT-62787 MINT-62711 I2D: score=6 
    ENSG00000224398P678702, 3MINT-62613 MINT-62787 MINT-62711 I2D: score=6 
    ENSG00000228875P678702, 3MINT-62613 MINT-62787 MINT-62711 I2D: score=6 
    ENSG00000230700P678702, 3MINT-62613 MINT-62787 MINT-62711 I2D: score=6 
    HIST1H4AP628053I2D: score=1 
    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--

    RPL5 for ontologies           About GeneDecksing



    (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 RPL5 (RL5)

    3 Novoseek inferred chemical compound relationships for RPL5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5s-rrna 87.5 4 8626719 (2), 10559190 (1)
    rrna 47.7 5 7729570 (2), 10491318 (1), 9465063 (1), 19377483 (1)
    zinc 12.4 1 15001109 (1)



    RPL5 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RPL5 gene: 
    NM_000969.3  

    Unigene Cluster for RPL5:

    Ribosomal protein L5
    Hs.532359  [show with all ESTs]
    Unigene Representative Sequence: BM903678
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370321(uc001dpd.3 uc001doz.3 uc001dpa.3) ENST00000470843
    ENST00000315741 ENST00000461952(uc001dpb.3) ENST00000497519
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat RPL5
      QuantiFast Probe-based Assays in human, mouse, rat RPL5

    Additional mRNA sequence: 

    AB208980.1 AF113210.1 AK222604.1 AK314720.1 BC001882.1 BC012937.2 BC109370.1 BC132970.1 
    BC132972.1 U14966.1 U66590.1 U76609.1 

    Selected DOTS entries (see all 73):

    DT.100711529  DT.85100102  DT.92411254  DT.100711527  DT.92466865  DT.100711509  DT.100711492  DT.102840559 
    DT.40212631  DT.100711500  DT.91928150  DT.100711490  DT.100711497  DT.100865162  DT.100711524  DT.100711516 
    DT.121427457  DT.91975491  DT.100711491  DT.95256981  DT.95256996  DT.100711523  DT.121427468  DT.92002755 

    Selected AceView cDNA sequences (see all 2668):

    BM554290 BG107828 BX465064 BC012937 BE549108 CA422546 BU177879 CB132260 
    BE746679 BI090391 F19446 AA155824 BM475213 BU194687 BG943714 BU632957 
    AA384994 AI002170 BG685856 BF726565 AB055762 AW674443 BQ271520 BM848463 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RPL5 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b
    SP1:              -                             -                       -           -     -                                 
    SP2:                                            -                       -           -     -                                 
    SP3:              -                             -                 -     -     -     -     -                                 
    SP4:              -                 -           -                                                                           
    SP5:              -                                                                                                         


    ECgene alternative splicing isoforms for RPL5

    (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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    RPL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTATACG
    RPL5 Expression
    About this image


    RPL5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
    RPL5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPL5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532359
        Custom PCR Arrays for RPL5
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat RPL5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPL5

    (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 RPL5 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpl51 , 5 ribosomal protein L51, 5 92.03(n)1
    98.32(a)1
      5 (52.23 cM)5
    1005036701  NM_016980.21  NP_058676.11 
     1079005025 
    chicken
    (Gallus gallus)
    Aves RPL51 ribosomal protein L5 83.16(n)
    95.29(a)
      395269  NM_204581.4  NP_989912.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    96(a)
    91(a)
    many → 1
    many → 1
    4(93545553-93559700)
    AAWZ02039539(2431-8061)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC527332 similar to ribosomal protein L5 81.31(n)    M29032.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mgcb01f082 mgcb01f08 76.61(n)   326961  BC049035.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta yip63
    RpL51
    protein biosynthesis structural
    constituent of more3
    Ribosomal protein L51
    62(a)3
    63.54(n)1
    69.1(a)1
      33551241  NM_001042925.21  NP_001036390.21 
    worm
    (Caenorhabditis elegans)
    Secernentea rpl-51 , 3 60S ribosomal protein L53
    rpl-51
    64(a)3
    57.96(n)1
    58.76(a)1
      II(8569853-8570792)3
    1743711  NM_063410.41  NP_495811.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPL5(YPL131W)4
    RPL51
    Protein component of the large (60S) ribosomal subunit more4
    RPL51
    56.21(n)1
    50.52(a)1
      16(303121-304014)4
    8559721, 4  NP_015194.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RPL5B1 RPL5B 60.52(n)
    57.45(a)
      833970  NM_123336.5  NP_198790.1 
    rice
    (Oryza sativa)
    Liliopsida Os.97382 Oryza sativa (japonica cultivar-group) cDNA clone0 more 73.42(n)    NM_190270.1 


    ENSEMBL Gene Tree for RPL5 (if available)
    TreeFam Gene Tree for RPL5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPL5 gene

    RPL5 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for RPL5 (see all 44)
    PGOHUM00000238350 PGOHUM00000238654 PGOHUM00000238831 PGOHUM00000238934 PGOHUM00000242496


    (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 RPL5 (see all 83)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0554514
    Diamond-Blackfan anemia 6 (DBA6)4--see VAR_0554512 A V mis40--------
    VAR_0554504
    Diamond-Blackfan anemia 6 (DBA6)4--see VAR_0554502 G S mis40--------
    rs1824816411,2
    C--93296290(+) TCTGCC/TTCCTG 1 -- us2k10--------
    rs1875180071,2
    --93296404(+) ACCATA/GTTGTC 1 -- us2k10--------
    rs1920990781,2
    C--93296443(+) GATCCA/GCCTGC 1 -- us2k10--------
    rs1391075011,2
    C--93296452(+) GCCTCA/GGCCTC 1 -- us2k10--------
    rs665253811,2
    C,F--93296764(+) TCTTTA/GCCCTT 1 -- us2k18Minor allele frequency- G:0.31NA WA CSA NS 398
    rs772937481,2
    C,F--93296800(+) ATCACA/CCTTCC 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1827361581,2
    --93296819(+) GTGTTC/TTAAGT 1 -- us2k10--------
    rs1891064821,2
    --93296864(+) GCGAAC/GTCTGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RPL5 (93297582 - 93307481 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RPL5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714684CNV Deletion23290073
    nsv508393CNV Loss20534489

    Human Gene Mutation Database (HGMD): RPL5
    Locus Specific Mutation Databases (LSDB): RPL5

    Site Specific Mutation Identification with PCR Assays
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    (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: 603634   
    OMIM disorders: 612561  
    UniProtKB/Swiss-Prot: RL5_HUMAN, P46777
  • Diamond-Blackfan anemia 6 (DBA6) [MIM:612561]: 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

  • Selected diseases for RPL5 (see all 26):    
    About MalaCards
    rpl5-related diamond-blackfan anemia    diamond-blackfan anemia 6    diamond-blackfan anemia    diamond-blackfan anemia 1
    diffuse astrocytoma    macrocytic anemia    colorectal cancer    treacher collins syndrome
    aplastic anemia    teratocarcinoma    cleft palate    short stature
    astrocytoma    nephritis    multiple sclerosis    influenza
    systemic lupus erythematosus    lupus erythematosus    lymphoblastic leukemia    neuroblastoma

    1 disease from the University of Copenhagen DISEASES database for RPL5:
    Aplastic anemia

    RPL5 for disorders           About GeneDecksing

    GeneTests: RPL5
    GeneReviews: RPL5
    Genetic Association Database (GAD): RPL5
    Human Genome Epidemiology (HuGE) Navigator: RPL5 (8 documents)

    Export disorders for RPL5 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 RPL5 gene, integrated from 10 sources (see all 151):
    (articles sorted by number of sources associating them with RPL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs. (PubMed id 7772601)1, 2, 3 Frigerio J.-M.... Iovanna J.L. (Biochim. Biophys. Acta 1995)
    2. U21, a novel small nucleolar RNA with a 13 nt. complementarity to 28S rRNA, is encoded in an intron of ribosomal protein L5 gene in chicken and mammals. (PubMed id 7937132)1, 2, 3 Qu L.H.... Bachellerie J.-P. (Nucleic Acids Res. 1994)
    3. Interaction of the beta subunit of casein kinase II with the ribosomal protein L5. (PubMed id 8806611)1, 2, 9 Kim J.-M.... Bae Y.-S. (Biochem. Biophys. Res. Commun. 1996)
    4. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond- Blackfan anemia. (PubMed id 19191325)1, 2, 9 Cmejla R.... Pospisilova D. (Hum. Mutat. 2009)
    5. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. (PubMed id 19061985)1, 2, 9 Gazda H.T....Beggs A.H. (Am. J. Hum. Genet. 2008)
    6. Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis. (PubMed id 20087403)1, 4 Alcina A....Matesanz F. (Eur. J. Hum. Genet. 2010)
    7. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (PubMed id 20378560)1, 4 Konno Y....Ito E. (Haematologica 2010)
    8. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. (PubMed id 19773262)1, 4 Quarello P....Ramenghi U. (Haematologica 2010)
    9. Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. (PubMed id 19525955)1, 4 (Nat. Genet. 2009)
    10. Risk alleles for multiple sclerosis in multiplex families. (PubMed id 19506219)1, 4 D'Netto M.J....Ebers G.C. (Neurology 2009)

    (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: 6125 HGNC: 10360 AceView: RPL5 Ensembl:ENSG00000122406 euGenes: HUgn6125
    ECgene: RPL5 Kegg: 6125 H-InvDB: RPL5

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for RPL5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RPL5 Genetics and Cytogenetics in Oncology and Haematology
    Diamond-Blackfan Anemia mutation databasehttp://www.dbagenes.unito.it/home.php?select_db=RPL5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RPL5 gene:
    Search GeneIP for patents involving RPL5

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



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