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RPL10 Gene

protein-coding   GIFtS: 68
GCID: GC0XP153618

Ribosomal Protein L10

  See RPL10-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 L101 2     DXS6482 5
QM2 3 5     60S Ribosomal Protein L102
Laminin Receptor Homolog2 3     L102
Tumor Suppressor QM2 3     NOV2
DXS648E2 3     Wilms Tumor-Related Protein2
AUTSX52 5     Protein QM3

External Ids:    HGNC: 102981   Entrez Gene: 61342   Ensembl: ENSG000001474037   OMIM: 3121735   UniProtKB: P276353   

Export aliases for RPL10 gene to outside databases

Previous GC identifers: GC0XP147690 GC0XP150007 GC0XP151212 GC0XP152096 GC0XP152097 GC0XP153147 GC0XP153279


(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 RPL10 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 four 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 L10E
family of ribosomal proteins. It is located in the cytoplasm. In vitro studies have shown that the chicken
protein can bind to c-Jun and can repress c-Jun-mediated transcriptional activation, but these activities have
not been demonstrated in vivo. This gene was initially identified as a candidate for a Wilms tumor suppressor
gene, but later studies determined that this gene is not involved in the suppression of Wilms tumor. This gene
has been referred to as 'laminin receptor homolog' because a chimeric transcript consisting of sequence from this
gene and sequence from the laminin receptor gene was isolated; however, it is not believed that this gene encodes
a laminin receptor. Alternative splicing results in multiple transcript variants. This gene also uses multiple
polyA signals, with the 3'-most polyA signal overlapping the deoxyribonuclease I-like 1 gene on the opposite
strand. This gene is co-transcribed with the small nucleolar RNA gene U70, 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, Feb 2012)

GeneCards Summary for RPL10 Gene:
RPL10 (ribosomal protein L10) is a protein-coding gene. Diseases associated with RPL10 include autism x-linked 5, and autism spectrum disorder. GO annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is RPL10L.

Gene Wiki entry for RPL10 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_000023.10  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPL10 gene promoter:
         p53   AP-1   AML1a   AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPL10 promoter sequence
   Search Chromatin IP Primers for RPL10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPL10


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

RPL10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPL10 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153618:  view genomic region     (about GC identifiers)

Start:
153,618,315 bp from pter      End:
153,637,504 bp from pter
Size:
19,190 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: RL10_HUMAN, P27635 (See protein sequence)
Recommended Name: 60S ribosomal protein L10  
Size: 214 amino acids; 24604 Da
Subunit: Component of the large ribosomal subunit. Mature ribosomes consist of a small (40S) and a large (60S)
subunit. The 40S subunit contains about 33 different proteins and 1 molecule of RNA (18S). The 60S subunit
contains about 49 different proteins and 3 molecules of RNA (28S, 5.8S and 5S)
Developmental stage: Down-regulated during adipocyte, kidney, and heart differentiation
Sequence caution: Sequence=AAB22173.1; Type=Frameshift; Positions=124; Sequence=CAM45852.1; Type=Erroneous gene
model prediction; Sequence=CAM45853.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for RPL10:
2PA2 (3D)    
Secondary accessions: A3KQT0 D3DWW6 Q16470 Q2HXT7 Q53FH7 Q6FGN8 Q8TDA5

Explore the universe of human proteins at neXtProt for RPL10: NX_P27635

Explore proteomics data for RPL10 at MOPED

Post-translational modifications: 

  • Citrullinated by PADI4 (By similarity)1
  • Ubiquitination2 at Lys30, Lys42, Lys74, Lys78, Lys101, Lys121, Lys145, Lys175, Lys188, Lys208
  • Modification sites at PhosphoSitePlus

  • See RPL10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243506.1  NP_001243509.1  NP_006004.2  

    ENSEMBL proteins: 
     ENSP00000358832   ENSP00000388600   ENSP00000341730   ENSP00000395025   ENSP00000385621  
     ENSP00000406125   ENSP00000407754   ENSP00000405064   ENSP00000398047   ENSP00000413436  
    Reactome Protein details: P27635

    RPL10 Human Recombinant Protein Products:

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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:
     IPR001197 Ribosomal_L10e
     IPR016180 Ribosomal_L10e/L16
     IPR018255 Ribosomal_L10e_CS

    Graphical View of Domain Structure for InterPro Entry P27635

    ProtoNet protein and cluster: P27635

    1 Blocks protein domain: IPB001197 Ribosomal protein L10E

    UniProtKB/Swiss-Prot: RL10_HUMAN, P27635
    Similarity: Belongs to the ribosomal protein L10e family


    Find genes that share domains with RPL10           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 RPL10:
    60S ribosomal protein L10

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome NAS12962325
    GO:0005515protein binding IPI16741966
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with RPL10           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for RPL10:
     Decreased G3BP1 protein expres  Increased G2M DNA content  Nuclear 60S biogenesis defects  Nucleoplasmic pre-40S maturati 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPL10
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    Block miRNA regulation of human, mouse, rat RPL10 using miScript Target Protectors
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endoplasmic reticulum4
    nucleus2
    chloroplast1
    extracellular1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005783endoplasmic reticulum IDA--
    GO:0005829cytosol TAS--
    GO:0005840ribosome ----
    GO:0022625cytosolic large ribosomal subunit IDA12962325

    Find genes that share ontologies with RPL10           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 RPL10 About    
    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
    5Disease
    Disease


    Find genes that share SuperPaths with RPL10           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RPL10
        Signaling in Gap Junctions

    1 GeneGo (Thomson Reuters) Pathway for RPL10
        CFTR translational fidelity (class I mutations)

    1 BioSystems Pathway for RPL10
        Cytoplasmic Ribosomal Proteins


    Selected Reactome Pathways for RPL10 (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 RPL10):
        Ribosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPL10
    Interactions:

        GeneGlobe Interaction Network for RPL10

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

    Selected Interacting proteins for RPL10 (P276351, 2, 3 ENSP000003417304) via UniProtKB, MINT, STRING, and/or I2D (see all 436)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--
    GO:0006414translational elongation TAS--
    GO:0006415translational termination TAS--

    Find genes that share ontologies with RPL10           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 RPL10 (RL10)



    (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 RPL10 gene (3 alternative transcripts): 
    NM_001256577.1  NM_001256580.1  NM_006013.3  

    Unigene Cluster for RPL10:

    Ribosomal protein L10
    Hs.534404  [show with all ESTs]
    Unigene Representative Sequence: NM_006013
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000474786 ENST00000369817 ENST00000479366 ENST00000436473 ENST00000344746(uc004fkn.1)
    ENST00000489200 ENST00000491035 ENST00000458500 ENST00000485196 ENST00000482732
    ENST00000492572 ENST00000467168 ENST00000406022 ENST00000451365(uc004fkq.1 uc004fkr.1)
    ENST00000449494 ENST00000427682 ENST00000428169 ENST00000424325(uc004fkm.2 uc004fko.2)

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    Additional mRNA sequence: 

    AB019572.1 AF486812.1 AK130582.1 AK223309.1 AK307511.1 AY927536.1 AY927570.1 AY927623.1 
    AY927624.1 BC003358.1 BC018570.1 BC026276.1 BC071918.1 BC095425.1 BX647954.1 CR456797.1 
    CR542069.1 M64241.1 M73791.1 NR_000011.1 S35960.1 X87196.1 Y11164.1 

    Selected DOTS entries (see all 175):

    DT.100846681  DT.121294714  DT.95325374  DT.100739701  DT.95202193  DT.85103592  DT.92071022  DT.100056570 
    DT.91865037  DT.121449274  DT.100739666  DT.92071218  DT.92412815  DT.91807241  DT.91840444  DT.121449218 
    DT.102841538  DT.100060476  DT.100739687  DT.121294698  DT.91965656  DT.92070886  DT.97870113  DT.101977215 

    Selected AceView cDNA sequences (see all 2625):

    BQ054538 BM850060 BM761570 F26550 BU176793 AV703077 BG613099 BQ643148 
    BQ949845 BI858292 BQ061786 BM763107 BQ221761 CB131759 AA381415 CN481716 
    BQ900564 BX283366 BU538172 BQ642300 AI653496 BM915117 BQ226565 BM463233 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RPL10 (see all 12)    About this scheme

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


    ECgene alternative splicing isoforms for RPL10

    (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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    RPL10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGCTTCCA
    RPL10 Expression
    About this image


    RPL10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 22) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
    RPL10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPL10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534404
        Custom PCR Arrays for RPL10
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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 RPL10 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpl101 , 5 ribosomal protein 105
    ribosomal protein L101
    90.5(n)1
    100(a)1
      X (37.94 cM)5
    1109541  NM_052835.31  NP_443067.11 
     742708125 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    96(a)
    1 → many
    AADN03016467.1(7-787)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    97(a)
    1 → many
    2(86474899-86478644)
    African clawed frog
    (Xenopus laevis)
    Amphibia rpl10-prov2 ribosomal protein L10 82.55(n)    BC044716.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa93d032 wufa93d03 83.25(n)   336712  BC045950.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Qm3 protein biosynthesis structural
    constituent of more
    78(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea rpl-103 ribosomal protein L10 (QM protein) 74(a)   II(8143691-8144574)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPL10(YLR075W)4 Protein component of the large (60S) ribosomal subunit, more   --   12(282927-283592) 850764  NP_013176.1 
    Alicante grape
    (Vitis vinifera)
    eudicotyledons CB006139.12   -- 74.7(n)    CB006139.1 
    rice
    (Oryza sativa)
    Liliopsida Os.101342 O.sativa SC34 mRNA for tumor suppressor 77.71(n)    AK103710.1 


    ENSEMBL Gene Tree for RPL10 (if available)
    TreeFam Gene Tree for RPL10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPL10 gene
    RPL10L2  
    1 SIMAP similar gene for RPL10 using alignment to 8 protein entries:     RL10_HUMAN (see all proteins):
    RPL10L

    Find genes that share paralogs with RPL10           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for RPL10 (see all 43)
    PGOHUM00000242383 PGOHUM00000256671 PGOHUM00000242931 PGOHUM00000239511 PGOHUM00000239521


    (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 RPL10 (see all 55)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0277964
    Autism, X-linked 5 (AUTSX5)4--see VAR_0277962 H Q mis40--------
    VAR_0277954
    Autism, X-linked 5 (AUTSX5)4--see VAR_0277952 L M mis40--------
    rs66552871,2
    C,F,A--153493155(+) GCCACA/GGCGCC 3 -- us2k12Minor allele frequency- G:0.33NA CSA 3
    rs1137341161,2
    --153493158(+) ACAGCA/GCCCGG 3 -- us2k10--------
    rs1812623981,2
    C--153493433(+) CCTCCC/GCCTCC 3 -- us2k10--------
    rs1869590121,2
    --153493715(+) GGCTCA/TAGTGA 3 -- us2k10--------
    rs1917415941,2
    --153493735(+) CTCCGC/TCCCTC 3 -- us2k10--------
    rs1819261731,2
    --153493826(+) CGAACC/TCAGTT 3 -- us2k10--------
    rs1861530381,2
    --153493944(+) TCCCAA/GGCTTT 3 -- us2k10--------
    rs1897353601,2
    --153494065(+) TTACCC/GCACCG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for RPL10 (153618315 - 153637504 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for RPL10:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519042CNV Gain19592680
    esv33199CNV Gain+Loss17666407
    esv33784CNV Gain+Loss17666407
    nsv7468OTHER Inversion18451855
    nsv220OTHER Inversion15895083

    Human Gene Mutation Database (HGMD): RPL10
    Locus Specific Mutation Databases (LSDB): RPL10

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPL10
    DNA2.0 Custom Variant and Variant Library Synthesis for RPL10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 312173   
    OMIM disorders: 300847  
    UniProtKB/Swiss-Prot: RL10_HUMAN, P27635
  • Autism, X-linked 5 (AUTSX5) [MIM:300847]: A complex multifactorial, pervasive developmental disorder
    characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped
    patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most
    individuals with autism also manifest moderate mental retardation. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry. RPL10 is involved in autism only in rare cases. Two
    hypomorphic variants affecting the translation process have been found in families with autism spectrum
    disorders, suggesting that aberrant translation may play a role in disease mechanisms

  • 4 diseases for RPL10:    
    About MalaCards
    autism x-linked 5    autism spectrum disorder    wilms tumor    hypoadrenalism


    Find genes that share disorders with RPL10           About GenesLikeMe

    2 Novoseek inferred disease relationships for RPL10 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wilms tumor 48.5 1 8789260 (1)
    tumors 0 5 12138090 (2), 19307926 (1)

    Genetic Association Database (GAD): RPL10
    Human Genome Epidemiology (HuGE) Navigator: RPL10 (5 documents)

    Export disorders for RPL10 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 RPL10 gene, integrated from 10 sources (see all 92):
    (articles sorted by number of sources associating them with RPL10)
        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. An investigation of ribosomal protein L10 gene in autism spectrum disorders. (PubMed id 19166581)1, 4, 9 Gong X....Bourgeron T. (BMC Med. Genet. 2009)
    3. QM, a putative tumor suppressor, regulates proto-oncogene c-Yes. (PubMed id 12138090)1, 2, 9 Oh H.S.... Yang C.-H. (J. Biol. Chem. 2002)
    4. Crystal structure of human ribosomal protein L10 core domain reveals eukaryote-specific motifs in addition to the conserved fold. (PubMed id 18258260)1, 2, 9 Nishimura M....Kobayashi Y. (J. Mol. Biol. 2008)
    5. Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder. (PubMed id 21567917)1, 2 Chiocchetti A.... Klauck S.M. (Am. J. Med. Genet. A 2011)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. (PubMed id 16940977)1, 2 Klauck S.M.... Poustka A. (Mol. Psychiatry 2006)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    9. 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)
    10. 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)

    (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: 6134 HGNC: 10298 AceView: RPL10 Ensembl:ENSG00000147403 euGenes: HUgn6134
    ECgene: RPL10 Kegg: 6134 H-InvDB: RPL10

    (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 RPL10 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RPL10 Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for RPL10 gene:
    Search GeneIP for patents involving RPL10

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



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