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RPL10 (ribosomal protein L10)

Identity

Other namesDKFZp686J1851
DXS648
DXS648E
FLJ23544
FLJ27072
NOV
QM
HGNC (Hugo) RPL10
LocusID (NCBI) 6134
Location Xq28
Location_base_pair Starts at 153626571 and ends at 153630680 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

 
Description DNA size 3.96 kb, mRNA size 2172 bp, 7 exons. The RPL10 gene is co-transcribed with the small nucleolar RNA gene U70 that is located in its fifth intron. Multiple processed pseudogenes of the gene RPL10 are dispersed in the genome. Moreover, transcript variants utilizing alternative polyA signals exist; the variant with the longest 3' UTR overlaps the deoxyribonuclease I-like 1 gene on the opposite strand.

Protein

Description 214 amino acids; 24604 Da. The protein is a component of the large ribosomal (60S) subunit and belongs to the L10E family of ribosomal proteins. Three natural variants of the RPL10 protein, VAR_006922 (N202S, dbSNP rs4909 and dbSNP rs12012747), VAR_027795 (L206M), and VAR_027796 (H213Q) have been reported.
Expression Ubiquitous. RPL10 is expressed in a wide variety of embryonic and adult tissues, down-regulated during adipocyte, kidney, and heart differentiation.
Localisation Cytoplasm.
Function The ribosomal protein L10 (RPL10), a member of the L10E family of ribosomal proteins, is a key protein in assembling 60S ribosomal subunit and organizes the architecture of the aminoacyl-tRNA binding site. RPL10 was originally identified as QM, a candidate for a Wilms' tumor suppressor; however, later studies did not support the original hypothesis. In vitro studies have shown the interaction of RPL10 with the transcript regulator the c-Jun, as well as with the proto-oncogene c-Yes; however, these interactions yet to demonstrate in vivo.
Homology The percent identity below represents identity of RPL10 over an aligned region in UniGene.
- Mus musculus: 100 (percent identity)
- Xenopus tropicalis: 99.5
- Monodelphis domestica: 99.5
- Pan troglodytes: 99.5
- Xenopus laevis: 99.1
- Danio rerio: 97.7
- Drosophila melanogaster: 88.9
- Caenorhabditis elegans: 85.5
- Neurospora crassa: 84.7
- Saccharomyces cerevisiae: 78.3

Mutations

Note Two missense mutations L206M and H213Q at the C-terminal end of RPL10 were identified in two independent families with autism, a disorder of neural development.

Implicated in

Entity Prostatic adenocarcinoma
Note RPL10 gene showed up-regulation in androgen-independent C81 passage cells, derived from the LNCaP cell model that recapitulates prostate cancer progression. In a study using immunohistochemical technique, human prostatic tissues showed expression of RPL10 protein in all normal prostate glands adjacent to prostate cancer and in various intraepithelial neoplasia (PIN). However, in prostate cancer, the staining intensity and stained areas were decreased, compared to the normal glands and PIN lesions. There was an inverse correlation from normal to low-grade tumors and then to high-grade tumors. In high-grade tumors, the positive areas were mostly confined to peripheral aspects of tumors and were particularly strong in foci of perineural invasion. These results suggested that decreased RPL10 expression may be associated with early development of prostate cancer, but later a high level of RPL10 may facilitate progression of the tumors to a more aggressive phenotype.
  
Entity Ovarian cancer
Note Both adenine (A)/guanine (G) replacement was detected at the 605th nucleotide which changes the coding from serine to asparagines in 17 (58.6%) of the 29 ovarian tumors studied. The frequencies of A/A, G/G and A/G homo- or hetero-zygosity were 3.5%, 37.9% and 58.6%, respectively in cancer tissues but they were 26.1%, 52.2% and 21.7%, respectively in the adjacent normal tissues, indicating a higher heterozygous rate in cancer (58.6% vs 21.7%, p<0.01). These results suggest that high frequencies of loss of the A/G heterozygosity at the 605th nt of the RPL10 gene may be associated with ovarian cancer.
  
Entity Wilms' tumor
Note RPL10 was originally isolated by subtractive hybridization between a tumorigenic cell line (deleted for part of 11p) and a non-tumorigenic cell line (the tumorigenic cell line carrying an extra t(X;11) translocation chromosome). The RPL10 mRNA level was found modulated between the tumorigenic and nontumorigenic cell lines and suspected to be involved in the maintenance of the nontumorigenic phenotype. However, later study had shown that the RPL10 gene is X-linked and therefore not involved in suppression of tumorigenesis in Wilms' tumor.
  

External links

Nomenclature
HGNC (Hugo)RPL10   10298
Cards
AtlasRPL10ID42148chXq28
Entrez_Gene (NCBI)RPL10  6134  ribosomal protein L10
GeneCards (Weizmann)RPL10
Ensembl hg19 (Hinxton)ENSG00000147403 [Gene_View]  chrX:153626571-153630680 [Contig_View]  RPL10 [Vega]
Ensembl hg38 (Hinxton)ENSG00000147403 [Gene_View]  chrX:153626571-153630680 [Contig_View]  RPL10 [Vega]
ICGC DataPortalENSG00000147403
cBioPortalRPL10
AceView (NCBI)RPL10
Genatlas (Paris)RPL10
WikiGenes6134
SOURCE (Princeton)RPL10
Genomic and cartography
GoldenPath hg19 (UCSC)RPL10  -     chrX:153626571-153630680 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RPL10  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblRPL10 - Xq28 [CytoView hg19]  RPL10 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIRPL10 [Mapview hg19]  RPL10 [Mapview hg38]
OMIM300847   312173   
Gene and transcription
Genbank (Entrez)AA187603 AB019572 AF218023 AF486812 AK026568
RefSeq transcript (Entrez)NM_001256577 NM_001256580 NM_006013
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_012890 NT_011681 NW_001842419 NW_004929448
Consensus coding sequences : CCDS (NCBI)RPL10
Cluster EST : UnigeneHs.534404 [ NCBI ]
CGAP (NCI)Hs.534404
Alternative Splicing : Fast-db (Paris)GSHG0031920
Alternative Splicing GalleryENSG00000147403
Gene ExpressionRPL10 [ NCBI-GEO ]     RPL10 [ SEEK ]   RPL10 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP27635 (Uniprot)
NextProtP27635  [Medical]
With graphics : InterProP27635
Splice isoforms : SwissVarP27635 (Swissvar)
Domaine pattern : Prosite (Expaxy)RIBOSOMAL_L10E (PS01257)   
Domains : Interpro (EBI)Ribosomal_L10e    Ribosomal_L10e/L16    Ribosomal_L10e_CS   
Related proteins : CluSTrP27635
Domain families : Pfam (Sanger)Ribosomal_L16 (PF00252)   
Domain families : Pfam (NCBI)pfam00252   
DMDM Disease mutations6134
Blocks (Seattle)P27635
PDB (SRS)2PA2   
PDB (PDBSum)2PA2   
PDB (IMB)2PA2   
PDB (RSDB)2PA2   
Human Protein AtlasENSG00000147403
Peptide AtlasP27635
HPRD02421
IPIIPI00554723   IPI00386498   IPI00853161   IPI00646899   IPI00853485   IPI00894078   IPI00893680   IPI00894342   IPI00894025   
Protein Interaction databases
DIP (DOE-UCLA)P27635
IntAct (EBI)P27635
FunCoupENSG00000147403
BioGRIDRPL10
IntegromeDBRPL10
STRING (EMBL)RPL10
Ontologies - Pathways
QuickGOP27635
Ontology : AmiGOnuclear-transcribed mRNA catabolic process, nonsense-mediated decay  structural constituent of ribosome  structural constituent of ribosome  protein binding  endoplasmic reticulum  cytosol  translation  translation  translation  translational initiation  translational elongation  translational termination  SRP-dependent cotranslational protein targeting to membrane  gene expression  membrane  viral process  RNA metabolic process  mRNA metabolic process  viral life cycle  viral transcription  cytosolic large ribosomal subunit  cellular protein metabolic process  poly(A) RNA binding  
Ontology : EGO-EBInuclear-transcribed mRNA catabolic process, nonsense-mediated decay  structural constituent of ribosome  structural constituent of ribosome  protein binding  endoplasmic reticulum  cytosol  translation  translation  translation  translational initiation  translational elongation  translational termination  SRP-dependent cotranslational protein targeting to membrane  gene expression  membrane  viral process  RNA metabolic process  mRNA metabolic process  viral life cycle  viral transcription  cytosolic large ribosomal subunit  cellular protein metabolic process  poly(A) RNA binding  
Pathways : KEGGRibosome   
REACTOMEP27635 [protein]
REACTOME PathwaysREACT_1762 3' -UTR-mediated translational regulation [pathway]
REACTOME PathwaysREACT_116125 Disease [pathway]
REACTOME PathwaysREACT_71 Gene Expression [pathway]
REACTOME PathwaysREACT_21257 Metabolism of RNA [pathway]
REACTOME PathwaysREACT_17015 Metabolism of proteins [pathway]
Protein Interaction DatabaseRPL10
DoCM (Curated mutations)RPL10
Wikipedia pathwaysRPL10
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerRPL10 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPL10
dbVarRPL10
ClinVarRPL10
1000_GenomesRPL10 
Exome Variant ServerRPL10
SNP (GeneSNP Utah)RPL10
SNP : HGBaseRPL10
Genetic variants : HAPMAPRPL10
Genomic VariantsRPL10  RPL10 [DGVbeta]
Mutations
ICGC Data PortalENSG00000147403 
Cancer Gene: CensusRPL10 
Somatic Mutations in Cancer : COSMICRPL10 
CONAN: Copy Number AnalysisRPL10 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:153626571-153630680
Mutations and Diseases : HGMDRPL10
OMIM300847    312173   
MedgenRPL10
NextProtP27635 [Medical]
GENETestsRPL10
Disease Genetic AssociationRPL10
Huge Navigator RPL10 [HugePedia]  RPL10 [HugeCancerGEM]
snp3D : Map Gene to Disease6134
DGIdb (Drug Gene Interaction db)RPL10
General knowledge
Homologs : HomoloGeneRPL10
Homology/Alignments : Family Browser (UCSC)RPL10
Phylogenetic Trees/Animal Genes : TreeFamRPL10
Chemical/Protein Interactions : CTD6134
Chemical/Pharm GKB GenePA34660
Clinical trialRPL10
Cancer Resource (Charite)ENSG00000147403
Other databases
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
CoreMineRPL10
GoPubMedRPL10
iHOPRPL10

Bibliography

The isolation and characterization of a novel cDNA demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells.
Dowdy SF, Lai KM, Weissman BE, Matsui Y, Hogan BL, Stanbridge EJ.
Nucleic Acids Res. 1991 Oct 25;19(20):5763-9.
PMID 1658743
 
The QM gene is X-linked and therefore not involved in suppression of tumorigenesis in Wilms' tumor.
van den Ouweland AM, Verdijk M, Mannens MM, van Oost BA.
Hum Genet. 1992 Sep-Oct;90(1-2):144-6.
PMID 1330878
 
Expression profile of differentially-regulated genes during progression of androgen-independent growth in human prostate cancer cells.
Karan D, Kelly DL, Rizzino A, Lin MF, Batra SK.
Carcinogenesis. 2002 Jun;23(6):967-75.
PMID 12082018
 
Reduction of QM protein expression correlates with tumor grade in prostatic adenocarcinoma.
Altinok G, Powell IJ, Che M, Hormont K, Sarkar FH, Sakr WA, Grignon D, Liao DJ.
Prostate Cancer Prostatic Dis. 2006;9(1):77-82.
PMID 16331298
 
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
Klauck SM, Felder B, Kolb-Kokocinski A, Schuster C, Chiocchetti A, Schupp I, Wellenreuther R, Schmotzer G, Poustka F, Breitenbach-Koller L, Poustka A.
Mol Psychiatry. 2006 Dec;11(12):1073-84. Epub 2006 Aug 29.
PMID 16940977
 
Loss of heterozygosity and microsatellite instability at the Xq28 and the A/G heterozygosity of the QM gene are associated with ovarian cancer.
Shen XJ, Ali-Fehmi R, Weng CR, Sarkar FH, Grignon D, Liao DJ.
Cancer Biol Ther. 2006 May;5(5):523-8. Epub 2006 May 15.
PMID 16627977
 
An investigation of ribosomal protein L10 gene in autism spectrum disorders.
Gong X, Delorme R, Fauchereau F, Durand CM, Chaste P, Betancur C, Goubran-Botros H, Nygren G, Anckarsater H, Rastam M, Gillberg IC, Kopp S, Mouren-Simeoni MC, Gillberg C, Leboyer M, Bourgeron T.
BMC Med Genet. 2009 Jan 23;10:7.
PMID 19166581
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2010Mohit Goel, Ranjan Tamuli
Department of Biotechnology, Indian Institute of Technology Guwahati, Guwahati-781 039, Assam, India

Citation

This paper should be referenced as such :
Goel, M ; Tamuli, R
RPL10 (ribosomal protein L10)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(5):-.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/RPL10ID42148chXq28.html

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indexed on : Sun Dec 21 03:03:02 CET 2014

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