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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RPL5 Gene

protein-coding   GIFtS: 65
GCID: GC01P093297

ribosomal protein L5
 Explore 19 diseases affiliated with
RPL5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RPL5    

Aliases
for RPL5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ribosomal Protein L51 2
L51 2
DBA62 5
60S Ribosomal Protein 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


Summaries
for RPL5 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RPL5:
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)

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)


Genomic Views
for RPL5 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences 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 plasmid: RPL5 promoter sequence
   Search SABiosciences Chromatin IP Primers for RPL5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 93,297,594 bp from pter      End:
 93,307,481 bp from pter
Size:
 9,888 bases      Orientation:
 plus strand

Proteins
for RPL5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RL5_HUMAN, P46777 (See protein sequence)
Recommended Name: 60S ribosomal protein L5  
Size: 297 amino acids; 34363 Da
Subcellular location: Cytoplasm. Nucleus, nucleolus
Secondary accessions: Q32LZ3 Q53HH6 Q9H3F4

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P46777

    • RPL5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000960.2  
    ENSEMBL proteins: 
     ENSP00000359345   ENSP00000359338  
    Reactome Protein details: P46777
    Human Recombinant Protein Products: 
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    Novus Biologicals RPL5 Protein
    Novus Biologicals RPL5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RPL5

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA9687515
    GO:0005730nucleolus IEA--
    GO:0005829cytosol TAS--
    GO:0005840ribosome ----
    GO:0022625cytosolic large ribosomal subunit IDA12962325


    RPL5 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for RPL5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RPL5 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    IPB005484 Ribosomal protein L18P/L5E
    IPB005485 Ribosomal protein L5 signature


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


    Function
    for RPL5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RPL5 (see all 7)
    OriGene shRNA RFP: RPL5
    OriGene siRNA: RPL5
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS7772601
    GO:0003735structural constituent of ribosome NAS12962325
    GO:0005515protein binding IPI--
    GO:00080975S rRNA binding IEA--


    RPL5 for ontologies           About GeneDecksing


    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 


    Pathways & Interactions
    for RPL5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of PB1-F2
    8/26 pathways (see all 26)
    		Viral Protein Synthesis1.00
    		Cytoplasmic Ribosomal Proteins0.86
    		Viral mRNA Translation1.00
    		CFTR translational fidelity (class I mutations)0.83
    		Influenza Viral RNA Transcription and Replication1.00
    		SMG6 Cleaves mRNA with Premature Termination Codon0.80
    		Synthesis of nascent polypeptide containing signal sequence1.00
    		L13a-mediated translational silencing of Ceruloplasmin expression0.79
    2Metabolism of mRNA
    		Metabolism of mRNA1.00
    		Metabolism of RNA0.92
    3Disease
    		Disease1.00
    4p53 pathway
    		p53 pathway1.00
    5Generic Transcription Pathway
    		Gene Expression0.46

    Pathway sources
    See GeneCards unified pathways
    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

    5/28        Reactome Pathways for RPL5 (see all 28)
        Nonsense Mediated Decay Independent of the Exon Junction Complex
    Nonsense-Mediated Decay
    Translation
    SRP-dependent cotranslational protein targeting to membrane
    Eukaryotic Translation Initiation


    1         Kegg Pathway  (Kegg details for RPL5):
        Ribosome


    RPL5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPL5

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

    5/535 Interacting proteins for RPL5 (P467771, 2, 3 ENSP000003593454) via UniProtKB, MINT, STRING, and/or I2D (see all 535)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for RPL5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RPL5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RPL5
    3 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about RPL5 / RL5 

    Transcripts
    for RPL5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370321(uc001dpd.3 uc001doz.3 uc001dpa.3) ENST00000470843
    ENST00000490963 ENST00000315741 ENST00000461952(uc001dpb.3) ENST00000497519


    miRNA
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    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RPL5 (see all 7)
    OriGene shRNA RFP: RPL5
    OriGene siRNA: RPL5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RPL5
    Clone
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    Additional cDNA 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 

    24/73 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 

    24/2668 AceView cDNA sequences (see all 2668):

    BP369179 BU521216 BG109168 CB122349 BU173843 AA604002 BF026121 BI092540 
    BQ226506 CB129748 BQ057984 BQ774699 BM745106 BM849809 BM451132 AA991189 
    BQ649996 BM768842 BM787041 BM768901 BM463835 BE501597 BQ436038 BU676214 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for RPL5 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RPL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGCTATACG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See RPL5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPL5

    SOURCE GeneReport for Unigene cluster: Hs.532359
        SABiosciences Custom PCR Arrays for RPL5
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    In Situ
    Assay Products:     
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    Orthologs
    for RPL5 gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPL5 gene from 10/41 species (see all 41)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Rpl55
    Gm142171    		 ribosomal protein L55
    predicted gene 142171    		 90.77(n)1
    95.61(a)1    		   5 (52.23 cM)5
    6689361  XM_001004898.31  XP_001004898.31 
     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 --
    --
    		 --
    		 93(a)
    91(a)
    		 many → 1
    many → 1
    		 4(93546640-93556460)
    AAWZ02039539(2824-7680)
    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
    63.19(n)1
    67.68(a)1    		   33551241  NM_001042922.21  NP_001036387.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea rpl-51 , 3 60S ribosomal protein L53
    Protein RPL-51    		 64(a)3
    59.17(n)1
    59.86(a)1    		   II(8569853-8570792)3
    1743711  NM_063410.31  NP_495811.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes RPL5(YPL131W)4
    RPL51    		 Protein component of the large (60S) ribosomal subunit more4
    Rpl5p1    		 55.56(n)1
    50.52(a)1    		   16(303121-304014)4
    8559721, 4  NP_015194.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons ATL51 60S ribosomal protein L5-1 60.91(n)
    58.99(a)    		   822138  NM_113448.4  NP_566767.1 
    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
    for RPL5 gene

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

    RPL5 for paralogs           About GeneDecksing


    5/44 Pseudogenes.org Pseudogenes for RPL5 (see all 44)
    PGOHUM00000238350 PGOHUM00000238654 PGOHUM00000238831 PGOHUM00000238934 PGOHUM00000242496


    Genomic Variants
    for RPL5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/190 NCBI SNPs in RPL5 are shown (see all 190)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs582700161,2
    		C,F,--91416886(+) TGAAGT/CGATCC 1 -- us2k16Minor allele frequency- C:0.32WA NA CSA 246
    rs350513351,2
    		C,F,--91416993(+) ATAAGA/GTGCTG 1 -- us2k17Minor allele frequency- G:0.32NA WA CSA 248
    rs341680451,2
    		C,F,--91417316(+) CCAAAG/ATGCTG 1 -- us2k15Minor allele frequency- A:0.40NA WA CSA 10
    rs772937481,2
    		C,F,--91417963(+) ATCACA/CCTTCC 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs342442511,2
    		C,F,H,--91418343(+) CTGGGG/AGTGAG 1 -- us2k122Minor allele frequency- A:0.23NS EA NA WA CSA 2612
    rs1118333741,2
    		C,--91418471(+) AATGC-/GTTT  
                GTTAT     		1 -- us2k11Minor allele frequency- GTTT:0.50CSA 2
    rs1134873151,2
    		C--91418841(+) GATGGA/G/TGAGTG 1 -- spd11CSA 1
    rs1427228551,2
    		C,--91418909(+) CAGCCT/GAGGGC 1 -- int11Minor allele frequency- G:0.01NS 150
    rs75292091,2
    		H--91419028(+) TGGGGG/AGAGGG 1 -- int1 trp34Minor allele frequency- A:0.00NS EA 418
    rs120937671,2
    		C,H--91419298(+) TCTTAG/AATTTA 1 -- int16Minor allele frequency- A:0.00NS EA NA 424

    HapMap Linkage Disequilibrium report for RPL5 (93297594 - 93307481 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RPL5: --
    Human Gene Mutation Database (HGMD): RPL5

    Locus Specific Mutation Databases (LSDB): RPL5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RPL5
    DNA2.0 Custom Variant and Variant Library Synthesis for RPL5

    Disorders / Diseases
    for RPL5 gene

    (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.)
    About This Section
    RPL5 for disorders           About GeneDecksing

    OMIM gene information: 603634   
    OMIM disorders: 612561  
    UniProtKB/Swiss-Prot: RL5_HUMAN, P46777
  • Defects in RPL5 are the cause of Diamond-Blackfan anemia type 6 (DBA6) [MIM:612561]. DBA6 is a form of
    • Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy.
    Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an
    increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital
    anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital
    anomalies

    19 diseases for RPL5:    About MalaCards
    diamond-blackfan anemia    colorectal cancer    treacher collins syndrome    macrocytic anemia
    short stature    metastasis efficiency    systemic lupus erythematosus    cleft palate
    aplastic anemia    lupus erythematosus    anemia    multiple sclerosis
    diffuse astrocytoma    teratocarcinoma    astrocytoma    nephritis
    colon cancer    cholesterol    malaria

    1 disease from the University of Copenhagen DISEASES database for RPL5:
    Diamond-Blackfan anemia
    GeneTests: RPL5
    Diamond-Blackfan Anemia

    Human Genome Epidemiology (HuGE) Navigator: RPL5 (8 documents)

    Export disorders for RPL5 gene to outside databases

    Publications
    for RPL5 gene

    (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)
    About This Section

    PubMed articles for RPL5 gene, integrated from 9 sources (see all 129):
    (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. (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. (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. (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. (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. (2008)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing. (PubMed id 12962325)1, 2 Odintsova T.I....Karpova G.G. (2003)
    8. Human ribosomal protein L5 contains defined nuclear localization and export signals. (PubMed id 10766838)1, 9 Rosorius O....Hauber J. (2000)
    9. Cytosolic import factor- and Ran-independent nuclear transport of ribosomal protein L5. (PubMed id 11824785)1, 9 Rudt F. and Pieler T. (2001)
    10. Cooperation between the ribosomal proteins L5 and L11 in the p53 pathway. (PubMed id 18560357)1, 9 Horn H.F. and Vousden K.H. (2008)

    External Searches for RPL5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RPL5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6125 HGNC: 10360 AceView: RPL5 Ensembl:ENSG00000122406 euGenes: HUgn6125
    ECgene: RPL5 Kegg: 6125 H-InvDB: RPL5

    Other Databases showing RPL5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RPL5 gene

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

    Intellectual Property
    for RPL5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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