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RPL11 Gene

protein-coding   GIFtS: 68
GCID: GC01P024018

Ribosomal Protein L11

  See RPL11-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 L111 2     GIG342
CLL-Associated Antigen KW-122 3     L112
DBA72 5     Cell Growth-Inhibiting Protein 342
60S Ribosomal Protein L112     

External Ids:    HGNC: 103011   Entrez Gene: 61352   Ensembl: ENSG000001426767   OMIM: 6041755   UniProtKB: P629133   

Export aliases for RPL11 gene to outside databases

Previous GC identifers: GC01P023575 GC01P023089 GC01P023487 GC01P023763 GC01P023890 GC01P022268


(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 RPL11 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 L5P family of
ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA.
Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is
typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed
through the genome. (provided by RefSeq, Dec 2010)

GeneCards Summary for RPL11 Gene:
RPL11 (ribosomal protein L11) is a protein-coding gene. Diseases associated with RPL11 include rpl11-related diamond-blackfan anemia, and diamond-blackfan anemia 7. GO annotations related to this gene include RNA binding and rRNA binding.

UniProtKB/Swiss-Prot: RL11_HUMAN, P62913
Function: Binds to 5S ribosomal RNA (By similarity). Required for rRNA maturation and formation of the 60S
ribosomal subunits. Promotes nucleolar location of PML (By similarity)

Gene Wiki entry for RPL11 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 RPL11 gene promoter:
         E2F-4   E2F-3a   E2F-5   AML1a   p53   E2F-2   AREB6   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPL11 promoter sequence
   Search Chromatin IP Primers for RPL11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPL11


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

Entrez Gene cytogenetic band: 1p36.1-p35   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.1-p35

RPL11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPL11 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P024018:  view genomic region     (about GC identifiers)

Start:
24,018,269 bp from pter      End:
24,022,915 bp from pter
Size:
4,647 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: RL11_HUMAN, P62913 (See protein sequence)
Recommended Name: 60S ribosomal protein L11  
Size: 178 amino acids; 20252 Da
Subunit: Interacts with PML and MDM2 (By similarity)
1 PDB 3D structure from and Proteopedia for RPL11:
3J3B (3D)    
Secondary accessions: P25121 P39026 Q8TDH2 Q9Y674
Alternative splicing: 2 isoforms:  P62913-1, P39026-1   P62913-2, P39026-2   

Explore the universe of human proteins at neXtProt for RPL11: NX_P62913

Explore proteomics data for RPL11 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys8, Lys19, Lys38, Lys52, Lys78, Lys85, Lys169
  • Modification sites at PhosphoSitePlus

  • See RPL11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000966.2  NP_001186731.1  

    ENSEMBL proteins: 
     ENSP00000363676   ENSP00000390839   ENSP00000398888  
    Reactome Protein details: P62913

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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:
    RPL: L ribosomal proteins

    3 InterPro protein domains:
     IPR002132 Ribosomal_L5
     IPR022803 Ribosomal_L5_domain
     IPR020929 Ribosomal_L5_CS

    Graphical View of Domain Structure for InterPro Entry P62913

    ProtoNet protein and cluster: P62913

    1 Blocks protein domain: IPB003236 Mitochondrial ribosomal protein L5

    UniProtKB/Swiss-Prot: RL11_HUMAN, P62913
    Similarity: Belongs to the ribosomal protein L5P family


    Find genes that share domains with RPL11           About GenesLikeMe


    (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, 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: RL11_HUMAN, P62913
    Function: Binds to 5S ribosomal RNA (By similarity). Required for rRNA maturation and formation of the 60S
    ribosomal subunits. Promotes nucleolar location of PML (By similarity)

         Genatlas biochemistry entry for RPL11:
    60S ribosomal protein L11

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS7748210
    GO:0003735structural constituent of ribosome NAS12962325
    GO:0005515protein binding IPI15195100
    GO:0019843rRNA binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with RPL11           About GenesLikeMe


    Phenotypes:
         7 GenomeRNAi human phenotypes for RPL11:
     Decreased G3BP1 protein expres  Decreased viability of wild-ty  Increased S DNA content  Nuclear 40S maturation defects 
     Nuclear 60S biogenesis defects  Nucleolar pre-40S maturation d  S arrest 

    Animal Models:
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    Addgene plasmids for RPL11 

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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 UniProtKB/Swiss-Prot
    RL11_HUMAN, P62913: Nucleus, nucleolus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA15195100
    GO:0005829cytosol TAS--
    GO:0005840ribosome ----
    GO:0022625cytosolic large ribosomal subunit IDA12962325
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with RPL11           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 RPL11 About   (see all 7)  
    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
    5Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation


    Find genes that share SuperPaths with RPL11           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for RPL11
        CFTR translational fidelity (class I mutations)

    3 BioSystems Pathways for RPL11
        Cytoplasmic Ribosomal Proteins
    p53 pathway
    Validated targets of C-MYC transcriptional activation


    Selected Reactome Pathways for RPL11 (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 RPL11):
        Ribosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPL11
    Interactions:

        GeneGlobe Interaction Network for RPL11

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

    Selected Interacting proteins for RPL11 (P629131, 2, 3 ENSP000003636764) via UniProtKB, MINT, STRING, and/or I2D (see all 631)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDM2Q009871, 2, 3, ENSP000004172814EBI-354380,EBI-389668 MINT-3391155 MINT-7294635 MINT-3391071 MINT-3391138 MINT-8416041 I2D: score=7 STRING: ENSP00000417281
    RPL26P612542, 3, ENSP000002938424MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=5 STRING: ENSP00000293842
    RPS2P158802, 3, ENSP000003418854MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=3 STRING: ENSP00000341885
    RPS3P233962, 3, ENSP000002785724MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=3 STRING: ENSP00000278572
    RPS15AP622442, 3, ENSP000003186464MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=1 STRING: ENSP00000318646
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    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 RPL11           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 RPL11 (RL11)

    3 DrugBank Compounds for RPL11    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ANISOMYCIN-- --target--10592235
    Alpha-Hydroxy-Beta-Phenyl-Propionic Acid-- --target--10592235
    PUROMYCIN-- --target--10592235

    2 Novoseek inferred chemical compound relationships for RPL11 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiostrepton 89.7 5 7567452 (2), 9718323 (1), 18380436 (1)
    rrna 47.4 1 10090750 (1)



    Find genes that share compounds with RPL11           About GenesLikeMe



    (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 RPL11 gene (2 alternative transcripts): 
    NM_000975.3  NM_001199802.1  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374550(uc001bhl.3 uc001bhk.3) ENST00000467075 ENST00000482370
    ENST00000443624 ENST00000458455
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    Selected AceView cDNA sequences (see all 2115):

    BG272790 BF431910 BU538626 BM313703 CN484717 BM781859 AU279539 BM824892 
    CA434864 BM783187 BU077613 BC018970 CN478456 T58458 CB116142 N70594 
    BE281488 BQ707360 AA662859 AI879747 BM798758 BM888357 BE887015 AA486015 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RPL11 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for RPL11

    (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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    RPL11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCTGGTTCC
    RPL11 Expression
    About this image


    RPL11 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Endoderm (Gastrulation Derivatives)
             Endoderm-like cells
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
    RPL11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPL11 Protein Expression
        Custom PCR Arrays for RPL11
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    In Situ
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    (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 RPL11 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpl111 , 5 ribosomal protein L111, 5 91.57(n)1
    100(a)1
      4 (68.34 cM)5
    670251  NM_025919.21  NP_080195.11 
     1360282655 
    chicken
    (Gallus gallus)
    Aves RPL111 ribosomal protein L11 79.21(n)
    89.89(a)
      419682  NM_001030904.1  NP_001026075.1 
    lizard
    (Anolis carolinensis)
    Reptilia RPL116
    ribosomal protein L11
    97(a)
    1 ↔ 1
    GL343498.1(174750-177550)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rpl111 ribosomal protein L11 80.19(n)
    96(a)
      549394  NM_001016640.2  NP_001016640.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rpl111 ribosomal protein L11 82.77(n)
    95.51(a)
      415229  NM_001002139.1  NP_001002139.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RpL111 , 3 protein biosynthesis structural
    constituent of more3
    Ribosomal protein L111
    82(a)3
    72.35(n)1
    84.71(a)1
      56D73
    372351  NM_057706.41  NP_477054.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rpl-11.21 , 3 ribosomal protein3
    rpl-11.21
    82(a)
    (best of 2)3
    70.41(n)1
    82.25(a)1
      X(2277070-2278156)3
    1805351  NM_076012.51  NP_508413.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPL11B(YGR085C)4
    RPL11A1
    Protein component of the large (60S) ribosomal subunit, more4
    RPL11A1
    65.87(n)1
    72.46(a)1
      7(648907-648383)4
    8562171  NP_015427.11  8529764 
     NP_011599.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G587001 AT3G58700 66.27(n)
    72.29(a)
      825039  NM_115732.3  NP_191429.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g02356001 Os02g0235600 65.9(n)
    70.69(a)
      4328826  NM_001052921.1  NP_001046386.1 


    ENSEMBL Gene Tree for RPL11 (if available)
    TreeFam Gene Tree for RPL11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPL11 gene

    Find genes that share paralogs with RPL11           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for RPL11 (see all 6)
    PGOHUM00000238584 PGOHUM00000238877 PGOHUM00000239592 PGOHUM00000236916 PGOHUM00000240073


    (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 RPL11 (see all 216)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0554484
    Diamond-Blackfan anemia 7 (DBA7)4--see VAR_0554482 L H mis40--------
    rs1486941481,2
    --24230205(+) TTAATC/TAAAAC 2 -- us2k10--------
    rs1893459681,2
    --24230221(+) ATCATA/TGGTGG 2 -- us2k10--------
    rs1156050761,2
    F--24230350(+) AAGCTT/GCTTCT 2 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1926553391,2
    --24230359(+) CTCCTC/GGGTTC 2 -- us2k10--------
    rs1836083381,2
    --24230476(+) GGCCAC/GGCTGG 2 -- us2k10--------
    rs570922001,2
    C--24230920(+) TTTTTTT/-GTATT 2 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1473209561,2
    C,F--24230954(+) GTGTTA/GGCCAG 2 -- us2k11Minor allele frequency- G:0.06NS 138
    rs1895576811,2
    --24230989(+) CGATCA/CGCCCG 2 -- us2k10--------
    rs1812122501,2
    --24231074(+) ATAAGC/TGTAAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RPL11 (24018269 - 24022915 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RPL11: --
    Human Gene Mutation Database (HGMD): RPL11
    Locus Specific Mutation Databases (LSDB): RPL11

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPL11
    DNA2.0 Custom Variant and Variant Library Synthesis for RPL11

    (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: 604175   
    OMIM disorders: 612562  
    UniProtKB/Swiss-Prot: RL11_HUMAN, P62913
  • Diamond-Blackfan anemia 7 (DBA7) [MIM:612562]: 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

  • 4 diseases for RPL11:    
    About MalaCards
    rpl11-related diamond-blackfan anemia    diamond-blackfan anemia 7    diamond-blackfan anemia 1    diamond-blackfan anemia

    1 disease from the University of Copenhagen DISEASES database for RPL11:
    Aplastic anemia

    Find genes that share disorders with RPL11           About GenesLikeMe

    GeneTests: RPL11
    GeneReviews: RPL11
    Genetic Association Database (GAD): RPL11
    Human Genome Epidemiology (HuGE) Navigator: RPL11 (2 documents)

    Export disorders for RPL11 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 RPL11 gene, integrated from 10 sources (see all 134):
    (articles sorted by number of sources associating them with RPL11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A map of 75 human ribosomal protein genes. (PubMed id 9582194)1, 2, 3 Kenmochi N.... Page D.C. (Genome Res. 1998)
    2. 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)
    3. Cloning and determination of the primary structure of DNA complementary to the mRNA of human ribosomal protein L11. (PubMed id 7748210)1, 2, 9 Mishin V.P....Mertvetsov N.P. (Bioorg. Khim. 1995)
    4. Structural and functional analysis of the human ribosomal protein L11 gene. (PubMed id 12815950)1, 2, 9 Voronina E.N.... Filipenko M.L. (Mol. Biol. (Mosk.) 2003)
    5. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (PubMed id 20378560)1, 4 Konno Y....Ito E. (Haematologica 2010)
    6. 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)
    7. 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)
    8. 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)
    9. 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. (J. Protein Chem. 2003)
    10. Assignment of the L11 ribosomal protein gene (RPL11) to human chromosome 1p36.1--&gt;p35 by in situ hybridization. (PubMed id 10343117)1, 3 Graphodatsky A.S....Prydz H. (Cytogenet. Cell Genet. 1999)

    (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: 6135 HGNC: 10301 AceView: RPL11andTCEB3 Ensembl:ENSG00000142676 euGenes: HUgn6135
    ECgene: RPL11 Kegg: 6135 H-InvDB: RPL11

    (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 RPL11 Pharmacogenomics, SNPs, Pathways
    Diamond-Blackfan Anemia mutation databasehttp://www.dbagenes.unito.it/home.php?select_db=RPL11

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RPL11 gene:
    Search GeneIP for patents involving RPL11

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



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