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RPL26 Gene

protein-coding   GIFtS: 63
GCID: GC17M008280

Ribosomal Protein L26

  See RPL26-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 L261 2
DBA112 5
60S Ribosomal Protein L262
L262

External Ids:    HGNC: 103271   Entrez Gene: 61542   Ensembl: ENSG000001619707   OMIM: 6037045   UniProtKB: P612543   
ORGUL members:         

Export aliases for RPL26 gene to outside databases

Previous GC identifers: GC17M008658 GC17M009374 GC17M008223 GC17M008482 GC17M008483 GC17M008221 GC17M008175


(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 RPL26 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 L24P 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 RPL26 Gene:
RPL26 (ribosomal protein L26) is a protein-coding gene. Diseases associated with RPL26 include diamond-blackfan anemia 11, and rpl26-related diamond-blackfan anemia. GO annotations related to this gene include structural constituent of ribosome and RNA binding. An important paralog of this gene is RPL26L1.

Gene Wiki entry for RPL26 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_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPL26 gene promoter:
         HOXA3   AML1a   MyoD   RelA   AP-2gamma   AP-2beta   IRF-7A   SEF-1 (1)   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPL26 promoter sequence
   Search Chromatin IP Primers for RPL26

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPL26


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

Entrez Gene cytogenetic band: 17p13   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13

RPL26 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPL26 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M008280:  view genomic region     (about GC identifiers)

Start:
8,280,834 bp from pter      End:
8,286,565 bp from pter
Size:
5,732 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 142,647,142-142,647,658     

(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: RL26_HUMAN, P61254 (See protein sequence)
Recommended Name: 60S ribosomal protein L26  
Size: 145 amino acids; 17258 Da
1 PDB 3D structure from and Proteopedia for RPL26:
3J3B (3D)    
Secondary accessions: B2R4F0 D3DTR8 Q02877 Q6IPY2

Explore the universe of human proteins at neXtProt for RPL26: NX_P61254

Explore proteomics data for RPL26 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys36, Lys51, Lys63, Lys69, Lys103
  • Modification sites at PhosphoSitePlus

  • See RPL26 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000978.1  
    ENSEMBL proteins: 
     ENSP00000293842   ENSP00000463784   ENSP00000462249   ENSP00000464143   ENSP00000463470  
     ENSP00000462619   ENSP00000462322   ENSP00000464239   ENSP00000463910   ENSP00000463021  
    Reactome Protein details: P61254

    RPL26 Human Recombinant Protein Products:

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    Novus Biologicals RPL26 Proteins
    Novus Biologicals RPL26 Lysate
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    Cloud-Clone Corp. Proteins for RPL26

     
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    RPL26 Assay Products:

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    Search eBioscience for ELISAs for RPL26 


    (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

    5 InterPro protein domains:
     IPR014722 Rib_L2_dom2
     IPR005825 Ribosomal_L24/26_CS
     IPR005756 Ribosomal_L26/L24P_euk/arc
     IPR008991 Translation_prot_SH3-like
     IPR005824 KOW

    Graphical View of Domain Structure for InterPro Entry P61254

    ProtoNet protein and cluster: P61254

    UniProtKB/Swiss-Prot: RL26_HUMAN, P61254
    Similarity: Belongs to the ribosomal protein L24P family


    Find genes that share domains with RPL26           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:
         Genatlas biochemistry entry for RPL26:
    60S ribosomal protein L26

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS8479925
    GO:0003735structural constituent of ribosome NAS12962325
    GO:0005515protein binding ----
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with RPL26           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for RPL26:
     Decreased cell number, increas  Nuclear 60S biogenesis defects  Nuclear pre-40S maturation def 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPL26
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RPL26

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RPL26
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RPL26

    miRNA
    Products:
        
    miRTarBase miRNAs that target RPL26:
    hsa-mir-25-3p (MIRT050299), hsa-mir-193b-3p (MIRT041355), hsa-mir-18a-3p (MIRT040759), hsa-mir-935 (MIRT036674), hsa-mir-342-3p (MIRT043686), hsa-mir-423-3p (MIRT042470), hsa-mir-100-5p (MIRT048514), hsa-mir-652-3p (MIRT039470)

    Block miRNA regulation of human, mouse, rat RPL26 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate RPL26
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RPL26

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: RPL26 (NM_000987)
    Sino Biological Human cDNA Clone for RPL26
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPL26
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPL26
    Addgene plasmids for RPL26 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPL26


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0015934large ribosomal subunit ----
    GO:0022625cytosolic large ribosomal subunit IDA12962325
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with RPL26           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 RPL26 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
    5Translational Control
    Translational Control


    Find genes that share SuperPaths with RPL26           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RPL26
        Translational Control

    1 GeneGo (Thomson Reuters) Pathway for RPL26
        CFTR translational fidelity (class I mutations)

    1 BioSystems Pathway for RPL26
        Cytoplasmic Ribosomal Proteins


    Selected Reactome Pathways for RPL26 (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 RPL26):
        Ribosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPL26
    Interactions:

        Search GeneGlobe Interaction Network for RPL26

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

    Selected Interacting proteins for RPL26 (P612541, 2, 3 ENSP000002938424) via UniProtKB, MINT, STRING, and/or I2D (see all 457)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPL11P629132, 3, ENSP000003636764MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=5 STRING: ENSP00000363676
    RPS15AP622442, 3, ENSP000003186464MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=5 STRING: ENSP00000318646
    RPS6P627532, 3, ENSP000003697574MINT-6542674 MINT-8088269 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=4 STRING: ENSP00000369757
    RPS3P233962, 3, ENSP000002785724MINT-6542674 MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=3 STRING: ENSP00000278572
    RPL35P427662, 3, ENSP000002594694MINT-6489539 MINT-6488590 MINT-6489355 MINT-6488791 I2D: score=6 STRING: ENSP00000259469
    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 RPL26           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 RPL26 (RL26)



    (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 RPL26 gene: 
    NM_000987.3  

    Unigene Clusters for RPL26:

    Ribosomal protein L26
    Hs.482144  [show with all ESTs], Hs.644794  [show with all ESTs]
    Unigene Representative Sequences: BG032473, BU534121
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000293842(uc002glh.1) ENST00000584164 ENST00000578069 ENST00000584441
    ENST00000582485 ENST00000582556 ENST00000584906 ENST00000583011 ENST00000585176
    ENST00000584343 ENST00000578812 ENST00000583515 ENST00000578115
    miRNA
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: RPL26 (NM_000987)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPL26
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPL26
    Addgene plasmids for RPL26 
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat RPL26
      QuantiFast Probe-based Assays in human, mouse, rat RPL26

    Selected DOTS entries (see all 47):

    DT.91923325  DT.100061235  DT.92051055  DT.120877945  DT.95139040  DT.101987329  DT.120652  DT.120877952 
    DT.120935483  DT.120935512  DT.91783637  DT.100696133  DT.100696134  DT.120935532  DT.87018145  DT.120935475 
    DT.120935529  DT.121224025  DT.120756221  DT.120935472  DT.120935459  DT.120935473  DT.121643173  DT.95334664 

    Selected AceView cDNA sequences (see all 1510):

    AA600874 BG283456 CN481755 BM686189 BQ229872 BU860280 BU502579 BU675631 
    AJ708811 AA307071 AI185304 AA308787 BG031936 BE279572 BP870967 BQ637526 
    R92683 CB130156 AI708109 AA991718 BE298429 AI681532 AW182594 AI783664 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RPL26 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for RPL26

    (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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    RPL26 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCATCCGAA
    RPL26 Expression
    About this image

    RPL26 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPL26 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.482144 Hs.644794
        Custom PCR Arrays for RPL26
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat RPL26
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPL26

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPL26 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpl261 , 5 ribosomal protein L261, 5 87.82(n)1
    100(a)1
      11 (42.17 cM)5
    199411  NM_009080.21  NP_033106.11 
     689015835 
    chicken
    (Gallus gallus)
    Aves RPL266
    Gallus gallus ribosomal protein L26-like 1 (RPL26L...
    100(a)
    1 ↔ 1
    13(8470024-8474437)
    lizard
    (Anolis carolinensis)
    Reptilia RPL266
    ribosomal protein L26
    100(a)
    1 ↔ 1
    2(124479605-124483581)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ400236.12   -- 73.41(n)    BQ400236.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rpl261 ribosomal protein L26 80(n)
    95.86(a)
      406387  NM_213113.2  NP_998278.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG68463
    RpL261
    protein biosynthesis structural
    constituent of more3
    Ribosomal protein L261
    72(a)3
    67.59(n)1
    73.79(a)1
      75E43
    400601  NM_001275096.11  NP_001262025.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rpl-261 , 3 ribosomal protein L26 like3
    rpl-261
    62(a)3
    60.19(n)1
    64.03(a)1
      II(8602715-8603469)3
    1743791  NM_063422.41  NP_495823.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPL26A1 RPL26A 58.33(n)
    55.17(a)
      851058   NP_013448.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G499101 AT3G49910 62.35(n)
    73.38(a)
      824153  NM_114851.1  NP_190560.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g01501001 Os12g0150100 63.07(n)
    68.35(a)
      4351513  NM_001072697.1  NP_001066165.1 


    ENSEMBL Gene Tree for RPL26 (if available)
    TreeFam Gene Tree for RPL26 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPL26 gene
    RPL26L12  ENSG000002638092  
    2 SIMAP similar genes for RPL26 using alignment to 8 protein entries:     RL26_HUMAN (see all proteins):
    KRBA2    RPL26L1

    Find genes that share paralogs with RPL26           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for RPL26 (see all 36)
    PGOHUM00000238339 PGOHUM00000238530 PGOHUM00000262859 PGOHUM00000242427 PGOHUM00000251004


    (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 RPL26 (see all 185)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1389479881,2
    C--8269305(+) GAAGA-/AGTCAT
    CTAGAAGCT
    ATAAA
    1 -- ds50010--------
    rs1438395491,2
    F--8269306(+) AAGAAGTCATCTA
    GAAGCTA
    /-
    TAAAG
    2 -- ds5001 cds11Minor allele frequency- -:0.01NS 148
    rs773819321,2
    C,F--8269415(+) GCCTGT/CCCATA 1 -- ds50011Minor allele frequency- C:0.07EA 120
    rs1422977231,2
    C--8269497(+) TAGGC-/CTTCTTCT 1 -- ds50010--------
    rs1487928551,2
    --8269535(+) GATATA/GTCCTC 1 -- ds50010--------
    rs1126241531,2
    C--8269707(+) CTTGTG/ATATAA 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1415431731,2
    C--8269709(+) TGTATA/GTAAGA 1 -- ut311Minor allele frequency- G:0.00EU 1323
    rs2013072661,2
    --8269774(+) TTTCCA/TACTTG 2 V syn10--------
    rs792856231,2
    C,F--8269897(+) CACTAA/CAACAC 1 -- int11Minor allele frequency- C:0.04EA 120
    rs1836395991,2
    --8269948(+) GGTAGA/GTGGAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for RPL26 (8280834 - 8286565 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RPL26:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3057n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): RPL26
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPL26
    DNA2.0 Custom Variant and Variant Library Synthesis for RPL26

    (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: 603704   
    OMIM disorders: 614900  
    UniProtKB/Swiss-Prot: RL26_HUMAN, P61254
  • Diamond-Blackfan anemia 11 (DBA11) [MIM:614900]: 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

  • 3 diseases for RPL26:    
    About MalaCards
    diamond-blackfan anemia 11    rpl26-related diamond-blackfan anemia    diamond-blackfan anemia 1

    1 disease from the University of Copenhagen DISEASES database for RPL26:
    Diamond-Blackfan anemia

    Find genes that share disorders with RPL26           About GenesLikeMe


    Export disorders for RPL26 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 RPL26 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with RPL26)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence of a cDNA encoding human ribosomal protein L26 and of a cDNA probably encoding human ribosomal protein L6. (PubMed id 8479925)1, 2, 3 Zaman G.J.R. (Nucleic Acids Res. 1993)
    2. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. (PubMed id 22431104)1, 2 Gazda H.T....Beggs A.H. (Hum. Mutat. 2012)
    3. 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)
    4. The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. (PubMed id 11875025)1, 2 Yoshihama M.... Kenmochi N. (Genome Res. 2002)
    5. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PubMed id 23463506)1 Perez-Hernandez D....YA!A+ez-MA^ M. (J. Biol. Chem. 2013)
    6. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    7. Structures of the human and Drosophila 80S ribosome. (PubMed id 23636399)2 Anger A.M.... Beckmann R. (Nature 2013)
    8. The P-body component USP52/PAN2 is a novel regulator of HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (Biochem. J. 2013)
    9. Mutual protection of ribosomal proteins L5 and L11 from degradation is essential for p53 activation upon ribosomal biogenesis stress. (PubMed id 23169665)1 BursaA8 S....Volarevic S. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus. (PubMed id 23084401)1 Singh G....Moore M.J. (Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 6154 HGNC: 10327 AceView: RPL26 Ensembl:ENSG00000161970 euGenes: HUgn6154
    ECgene: RPL26 Kegg: 6154 H-InvDB: RPL26

    (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 RPL26 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RPL26 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RPL26 gene:
    Search GeneIP for patents involving RPL26

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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