RPL10 (ribosomal protein L10)

2010-08-01 Mohit Goel , Ranjan Tamuli Affiliation

Department of Biotechnology, Indian Institute of Technology Guwahati, Guwahati-781 039, Assam, India

Identity

HGNC

RPL10

LOCATION

Xq28

LOCUSID

6134

ALIAS

DKFZp686J1851,DXS648,DXS648E,FLJ23544,FLJ27072,NOV,QM

FUSION GENES

Show Gene Fusions

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.

Proteins

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 name

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 name

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

Entity name

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.

Bibliography

Pubmed ID	Last Year	Title	Authors
16331298	2006	Reduction of QM protein expression correlates with tumor grade in prostatic adenocarcinoma.	Altinok G et al
1658743	1991	The isolation and characterization of a novel cDNA demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells.	Dowdy SF et al
19166581	2009	An investigation of ribosomal protein L10 gene in autism spectrum disorders.	Gong X et al
12082018	2002	Expression profile of differentially-regulated genes during progression of androgen-independent growth in human prostate cancer cells.	Karan D et al
16940977	2006	Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.	Klauck SM et al
16627977	2006	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 et al
1330878	1992	The QM gene is X-linked and therefore not involved in suppression of tumorigenesis in Wilms' tumor.	van den Ouweland AM et al

Other Information

Locus ID:

NCBI: 6134
MIM: 312173
HGNC: 10298
Ensembl: ENSG00000147403

Variants:

dbSNP: 6134
ClinVar: 6134
TCGA: ENSG00000147403
COSMIC: RPL10

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000147403	ENST00000344746	P27635
ENSG00000147403	ENST00000344746	X5D2T3
ENSG00000147403	ENST00000369817	P27635
ENSG00000147403	ENST00000369817	X5D2T3
ENSG00000147403	ENST00000406022	F8W7C6
ENSG00000147403	ENST00000424325	P27635
ENSG00000147403	ENST00000424325	X5D2T3
ENSG00000147403	ENST00000427682	H7C2C5
ENSG00000147403	ENST00000428169	H7C123
ENSG00000147403	ENST00000436473	X1WI28
ENSG00000147403	ENST00000449494	H7C2U2
ENSG00000147403	ENST00000451365	B8A6G2
ENSG00000147403	ENST00000458500	A6QRI9
ENSG00000147403	ENST00000618723	A0A087WV22

Expression (GTEx)

1000

2000

3000

4000

5000

6000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Ribosome	KEGG	ko03010
Ribosome	KEGG	hsa03010
Ribosome, eukaryotes	KEGG	hsa_M00177
Ribosome, eukaryotes	KEGG	M00177
Metabolism of proteins	REACTOME	R-HSA-392499
Translation	REACTOME	R-HSA-72766
Eukaryotic Translation Initiation	REACTOME	R-HSA-72613
Cap-dependent Translation Initiation	REACTOME	R-HSA-72737
Formation of a pool of free 40S subunits	REACTOME	R-HSA-72689
GTP hydrolysis and joining of the 60S ribosomal subunit	REACTOME	R-HSA-72706
L13a-mediated translational silencing of Ceruloplasmin expression	REACTOME	R-HSA-156827
SRP-dependent cotranslational protein targeting to membrane	REACTOME	R-HSA-1799339
Eukaryotic Translation Elongation	REACTOME	R-HSA-156842
Peptide chain elongation	REACTOME	R-HSA-156902
Eukaryotic Translation Termination	REACTOME	R-HSA-72764
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
Influenza Infection	REACTOME	R-HSA-168254
Influenza Life Cycle	REACTOME	R-HSA-168255
Influenza Viral RNA Transcription and Replication	REACTOME	R-HSA-168273
Viral mRNA Translation	REACTOME	R-HSA-192823
Gene Expression	REACTOME	R-HSA-74160
Nonsense-Mediated Decay (NMD)	REACTOME	R-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	REACTOME	R-HSA-975957
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	REACTOME	R-HSA-975956
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Selenoamino acid metabolism	REACTOME	R-HSA-2408522
Selenocysteine synthesis	REACTOME	R-HSA-2408557
rRNA processing	REACTOME	R-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosol	REACTOME	R-HSA-6791226
rRNA processing in the nucleus and cytosol	REACTOME	R-HSA-8868773

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23263491	2013	Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia.	153
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
25316788	2014	A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.	33
16940977	2006	Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.	31
28744013	2018	The T-cell leukemia-associated ribosomal RPL10 R98S mutation enhances JAK-STAT signaling.	14
21567917	2011	Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.	13
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
27726420	2016	Mitochondrial Ribosomal Protein L10 Associates with Cyclin B1/Cdk1 Activity and Mitochondrial Function.	10
29930300	2019	The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL.	10
12138090	2002	QM, a putative tumor suppressor, regulates proto-oncogene c-yes.	9

Citation

Mohit Goel ; Ranjan Tamuli

RPL10 (ribosomal protein L10)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/42148/rpl10