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RPS10 Gene(Protein Coding)

Ribosomal Protein S10

GCID:
GC06M038451
GIFtS:
50
Genes Participants
UDN Logo

Aliases for RPS10 Gene

Aliases for RPS10 Gene

  • Ribosomal Protein S10 2 3 5
  • Small Ribosomal Subunit Protein ES10 3 4
  • 40S Ribosomal Protein S10 3
  • DBA9 3
  • S10 3

External Ids for RPS10 Gene

Previous GeneCards Identifiers for RPS10 Gene

  • GC06M034383
  • GC06M034432
  • GC06M034493
  • GC06M034107
  • GC06M034514
  • GC06M034898
  • GC06M035236
  • GC06M035731
  • GC06M034633
  • GC06M035569
  • GC06M036282
  • GC06M036656
  • GC06M037009
  • GC06M037359
  • GC06M037715
  • GC06M038061

Summaries for RPS10 Gene

Entrez Gene Summary for RPS10 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 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]

GeneCards Summary for RPS10 Gene

RPS10 (Ribosomal Protein S10) is a Protein Coding gene. Diseases associated with RPS10 include Diamond-Blackfan Anemia 9 and Diamond-Blackfan Anemia. Among its related pathways are Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and Viral mRNA Translation. An important paralog of this gene is RPS10-NUDT3.

UniProtKB/Swiss-Prot for RPS10 Gene

  • Component of the 40S ribosomal subunit.

Gene Wiki entry for RPS10 Gene

Additional gene information for RPS10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS10 Gene

Genomics for RPS10 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for RPS10 Gene

Promoters and enhancers for RPS10 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J034423 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 681.3 +0.8 830 2.9 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 POLR2B CBX5 RPS10 RPS10-NUDT3 LEMD2 NUDT3
GH06J034421 Promoter 0.7 EPDnew 650.7 +4.3 4307 0.1 SMAD5 POLR2A SUPT5H RPS10 RPS10-NUDT3 NUDT3
GH06J034390 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 48.1 +34.0 33989 3.6 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NUDT3 RPS10 TAF11 ENSG00000272374 LEMD2 PHF1 ITPR3 ZNF76 SNRPC SYNGAP1
GH06J034233 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 39.9 +183.9 183869 17.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SMIM29 MIR6835 HMGA1 LEMD2 VPS52 WDR46 DAXX TAF11 RGL2 HCG25
GH06J034223 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 47.4 +201.7 201688 2.7 HDGF SMAD1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 IRF4 YY1 RPS10 VPS52 TAF11 DAXX LEMD2 WDR46 ITPR3 RGL2 KIFC1 HCG25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPS10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPS10 gene promoter:
  • Evi-1
  • Olf-1
  • AREB6
  • ATF6
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • CREB
  • deltaCREB
  • GATA-1

Genomic Locations for RPS10 Gene

Genomic Locations for RPS10 Gene
chr6:34,417,454-34,426,125
(GRCh38/hg38)
Size:
8,672 bases
Orientation:
Minus strand
chr6:34,385,231-34,393,902
(GRCh37/hg19)
Size:
8,672 bases
Orientation:
Minus strand

Genomic View for RPS10 Gene

Genes around RPS10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS10 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RPS10 Gene

Proteins for RPS10 Gene

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  • Protein details for RPS10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46783-RS10_HUMAN
    Recommended name:
    40S ribosomal protein S10
    Protein Accession:
    P46783
    Secondary Accessions:
    • B2R4E3
    • Q5TZC0

    Protein attributes for RPS10 Gene

    Size:
    165 amino acids
    Molecular mass:
    18898 Da
    Quaternary structure:
    • Component of the small ribosomal subunit. Interacts with PRMT5. The methylated form interacts with NPM1.

    Three dimensional structures from OCA and Proteopedia for RPS10 Gene

neXtProt entry for RPS10 Gene

Protein Expression for RPS10 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RPS10 Gene

  • Methylated by PRMT5. Methylation is necessary for its interaction with NPS1, its localization in the granular component (GC) region of the nucleolus, for the proper assembly of ribosomes, protein synthesis and optimal cell proliferation.
  • Monoubiquitinated by ZNF598 when a ribosome has stalled during translation of poly(A) sequences, leading to preclude synthesis of a long poly-lysine tail and initiate the ribosome quality control (RQC) pathway to degrade the potentially detrimental aberrant nascent polypeptide (PubMed:28065601, PubMed:28132843).
  • Ubiquitination at isoforms=139, isoforms=138, posLast=107107, and isoforms=59
  • Modification sites at PhosphoSitePlus

Other Protein References for RPS10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RPS10 Gene

Domains & Families for RPS10 Gene

Gene Families for RPS10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for RPS10 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RPS10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P46783

UniProtKB/Swiss-Prot:

RS10_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eS10 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eS10 family.
genes like me logo Genes that share domains with RPS10: view

Function for RPS10 Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for RPS10 Gene

UniProtKB/Swiss-Prot Function:
Component of the 40S ribosomal subunit.
GENATLAS Biochemistry:
40S ribosomal protein S10

Phenotypes From GWAS Catalog for RPS10 Gene

Gene Ontology (GO) - Molecular Function for RPS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA --
GO:0003735 structural constituent of ribosome IBA --
GO:0005515 protein binding IPI 20159986
genes like me logo Genes that share ontologies with RPS10: view
genes like me logo Genes that share phenotypes with RPS10: view

Human Phenotype Ontology for RPS10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS10 Gene

Localization for RPS10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPS10 Gene

Cytoplasm. Nucleus, nucleolus. Note=Localized in the granular component (GC) region of the nucleolus. Methylation is required for its localization in the GC region. Colocalizes with NPS1 in the GC region of the nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPS10 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA,IDA 20159986
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RPS10: view

Pathways & Interactions for RPS10 Gene

SuperPathways for RPS10 Gene

PathCards logo More details on SuperPathways for RPS10
SuperPathway Contained pathways
1 Viral mRNA Translation
Eukaryotic Translation Elongation
.95
Peptide chain elongation
.95
Cap-dependent Translation Initiation
.94
Eukaryotic Translation Initiation
.94
GTP hydrolysis and joining of the 60S ribosomal subunit
.94
L13a-mediated translational silencing of Ceruloplasmin expression
.94
Selenocysteine synthesis
.93
Viral mRNA Translation
.93
Eukaryotic Translation Termination
.92
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
.91
Formation of a pool of free 40S subunits
.90
Cytoplasmic Ribosomal Proteins
.84
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
.83
Nonsense-Mediated Decay (NMD)
.83
Selenoamino acid metabolism
.78
CFTR translational fidelity (class I mutations)
.78
SRP-dependent cotranslational protein targeting to membrane
.77
Translation
.77
Ribosome
.55
Metabolism of amino acids and derivatives
.34
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
.94
Ribosomal scanning and start codon recognition
.94
Formation of the ternary complex, and subsequently, the 43S complex
.87
Translation initiation complex formation
.86
3 Influenza Viral RNA Transcription and Replication
Influenza Life Cycle
.94
Influenza Viral RNA Transcription and Replication
.94
Influenza Infection
.93
4 rRNA processing in the nucleus and cytosol
Major pathway of rRNA processing in the nucleolus and cytosol
.94
rRNA processing in the nucleus and cytosol
.94
rRNA processing
.89
5 HIV Life Cycle
Infectious disease
.61
Disease
.45
genes like me logo Genes that share pathways with RPS10: view

Gene Ontology (GO) - Biological Process for RPS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IBA --
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0006364 rRNA processing TAS --
GO:0006412 translation IC 8706699
GO:0006413 translational initiation TAS --
genes like me logo Genes that share ontologies with RPS10: view

No data available for SIGNOR curated interactions for RPS10 Gene

Drugs & Compounds for RPS10 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for RPS10 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RPS10 Gene

(3) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(1683) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RPS10 Gene

Ribosomal protein S10:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPS10 Gene

No ASD Table

Relevant External Links for RPS10 Gene

GeneLoc Exon Structure for
RPS10
ECgene alternative splicing isoforms for
RPS10

Expression for RPS10 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPS10 Gene

mRNA expression in normal human tissues for RPS10 Gene
mRNA expression by BioGPS for RPS10 GenemRNA expression by GTEx for RPS10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPS10 Gene



Protein tissue co-expression partners for RPS10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPS10 Gene:

RPS10

SOURCE GeneReport for Unigene cluster for RPS10 Gene:

Hs.406620

Evidence on tissue expression from TISSUES for RPS10 Gene

  • Skin(5)
  • Intestine(4.8)
  • Lung(4.8)
  • Nervous system(4.8)
  • Liver(4.5)
  • Bone(4.4)
  • Pancreas(4.4)
  • Eye(4.3)
  • Blood(4.2)
  • Kidney(3.9)
  • Muscle(3.6)
  • Stomach(3.6)
  • Heart(2.7)
  • Lymph node(2.2)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • pelvis
  • penis
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RPS10: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPS10 Gene

Orthologs for RPS10 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS10 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
 Mammalia -- 34
  • 99 (a)
 OneToMany
-- 34
  • 99 (a)
 OneToMany
RPS10 34 33
  • 91.11 (n)
 OneToMany
chimpanzee
(Pan troglodytes)
 Mammalia LOC742827 33
  • 98.99 (n)
mouse
(Mus musculus)
 Mammalia Rps10-ps1 34
  • 97 (a)
 OneToMany
Rps10 16 33
  • 91.11 (n)
cow
(Bos Taurus)
 Mammalia RPS10 34 33
  • 92.73 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 92 (a)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Rps10 33
  • 89.09 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 63 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves RPS10 34 33
  • 85.05 (n)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 88 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii rps10 34
  • 91 (a)
 OneToMany
zgc65936 33
fruit fly
(Drosophila melanogaster)
 Insecta CG14206 35
  • 65 (a)
RpS10a 34 33
  • 64.14 (n)
 ManyToMany
RpS10b 34
  • 64 (a)
 ManyToMany
BcDNA:LD32148 35
  • 56 (a)
worm
(Caenorhabditis elegans)
 Secernentea rps-10 34 35
  • 54 (a)
 OneToMany
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR569W 33
  • 56.54 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B08173g 33
  • 55.66 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RPS10A 36 34 33
  • 54.9 (n)
RPS10B 34
  • 52 (a)
 ManyToMany
barley
(Hordeum vulgare)
 Liliopsida Hv.2081 33
rice
(Oryza sativa)
 Liliopsida Os.20182 33
wheat
(Triticum aestivum)
 Liliopsida Ta.14409 33
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes rps1001 33
  • 64.1 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU06743 33
  • 55.3 (n)
Species where no ortholog for RPS10 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for RPS10 Gene

ENSEMBL:
Gene Tree for RPS10 (if available)
TreeFam:
Gene Tree for RPS10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPS10: view image

Paralogs for RPS10 Gene

Paralogs for RPS10 Gene

(3) SIMAP similar genes for RPS10 Gene using alignment to 2 proteins:

  • RS10_HUMAN
  • F6U211_HUMAN

Pseudogenes.org Pseudogenes for RPS10 Gene

genes like me logo Genes that share paralogs with RPS10: view

Variants for RPS10 Gene

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Sequence variations from dbSNP and Humsavar for RPS10 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs111597547 likely-benign, Diamond-Blackfan anemia 34,426,074(-) A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs113071821 likely-benign, Diamond-Blackfan anemia 34,426,129(-) A/G upstream_transcript_variant
rs140822093 likely-benign, Diamond-Blackfan anemia 34,426,060(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs146246722 conflicting-interpretations-of-pathogenicity, Diamond-Blackfan anemia 34,425,216(-) C/T coding_sequence_variant, synonymous_variant
rs147566753 conflicting-interpretations-of-pathogenicity, Diamond-Blackfan anemia 34,418,417(-) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for RPS10 Gene

Variant ID Type Subtype PubMed ID
esv2759418 CNV gain 17122850
nsv981133 CNV duplication 23825009

Variation tolerance for RPS10 Gene

Residual Variation Intolerance Score: 38.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPS10 Gene

Human Gene Mutation Database (HGMD)
RPS10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS10

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS10 Gene

Disorders for RPS10 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RPS10 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 9
  • dba9
diamond-blackfan anemia
  • diamond-blackfan anemia 1
macrocytic anemia
  • anemia macrocytic
pierre robin syndrome
  • prbns
giant axonal neuropathy
  • gan1
- elite association - COSMIC cancer census association via MalaCards
Search RPS10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RS10_HUMAN
  • Diamond-Blackfan anemia 9 (DBA9) [MIM:613308]: 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. {ECO:0000269 PubMed:20116044}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPS10

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RPS10: view

No data available for Genatlas for RPS10 Gene

Publications for RPS10 Gene

  1. Methylation of ribosomal protein S10 by protein-arginine methyltransferase 5 regulates ribosome biogenesis. (PMID: 20159986) Ren J … Xu Z (The Journal of biological chemistry 2010) 3 4 22 58
  2. A map of 75 human ribosomal protein genes. (PMID: 9582194) Kenmochi N … Page DC (Genome research 1998) 2 3 4 58
  3. Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs. (PMID: 7772601) Frigerio JM … Iovanna JL (Biochimica et biophysica acta 1995) 2 3 4 58
  4. Initiation of Quality Control during Poly(A) Translation Requires Site-Specific Ribosome Ubiquitination. (PMID: 28065601) Juszkiewicz S … Hegde RS (Molecular cell 2017) 3 4 58
  5. ZNF598 and RACK1 Regulate Mammalian Ribosome-Associated Quality Control Function by Mediating Regulatory 40S Ribosomal Ubiquitylation. (PMID: 28132843) Sundaramoorthy E … Bennett EJ (Molecular cell 2017) 3 4 58

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