RPS10 Gene (Protein Coding)

Ribosomal Protein S10

GC06M045172
GIFtS:
45
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 t... See more...

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 4
  • S10 2 3
  • MGC88819 2
  • RPS10 5
  • DBA9 3

External Ids for RPS10 Gene

Previous GeneCards Identifiers for RPS10 Gene

  • GC06M034383
  • GC06M034432
  • GC06M034493
  • GC06M034107
  • GC06M034514
  • GC06M034898
  • GC06M035236
  • GC06M035731
  • GC06M034633
  • GC06M035569
  • GC06M038946
  • GC06M039638
  • GC06M039943
  • GC06M041274
  • GC06M036282
  • GC06M036656
  • GC06M037009
  • GC06M037359
  • GC06M037715
  • GC06M038061
  • GC06M038451
  • GC06M038795
  • GC06M042209
  • GC06M043460

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 Summary for RPS10 Gene

Gene Wiki entry for RPS10 Gene

Additional gene information for RPS10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPS10 Gene

Genomics for RPS10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RPS10 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPS10

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

Genomic Locations for RPS10 Gene

Latest Assembly
chr6:34,417,454-34,426,069
(GRCh38/hg38)
Size:
8,616 bases
Orientation:
Minus strand

Previous Assembly
chr6:34,385,231-34,393,846
(GRCh37/hg19 by Entrez Gene)
Size:
8,616 bases
Orientation:
Minus strand

chr6:34,385,231-34,393,902
(GRCh37/hg19 by Ensembl)
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

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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 Lys59, Lys107, Lys138, and Lys139
  • 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
  • Predicted membrane proteins
  • Ribosomal proteins

Protein Domains for RPS10 Gene

InterPro:
Blocks:
  • Plectin/S10, N-terminal

Suggested Antigen Peptide Sequences for RPS10 Gene

GenScript: Design optimal peptide antigens:
  • 40S ribosomal protein S10 (RS10_HUMAN)

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

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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 21873635
GO:0003735 structural constituent of ribosome HDA,IBA 21873635
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPS10

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
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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

PathCards logo

SuperPathways for RPS10 Gene

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
CFTR translational fidelity (class I mutations)
.79
Selenoamino acid metabolism
.78
SRP-dependent cotranslational protein targeting to membrane
.77
Translation
.77
Ribosome
.53
Coronavirus disease - COVID-19
.37
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
.85
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

Pathways by source for RPS10 Gene

1 BioSystems pathway for RPS10 Gene
2 KEGG pathways for RPS10 Gene
1 GeneGo (Thomson Reuters) pathway for RPS10 Gene
  • CFTR translational fidelity (class I mutations)

Gene Ontology (GO) - Biological Process for RPS10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IBA 21873635
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0006412 translation IC 8706699
GO:0006413 translational initiation TAS --
GO:0006614 SRP-dependent cotranslational protein targeting to membrane 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

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for RPS10 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for RPS10 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPS10

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

No ASD Table

Relevant External Links for RPS10 Gene

GeneLoc Exon Structure for
RPS10

Expression for RPS10 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPS10

SOURCE GeneReport for Unigene cluster for RPS10 Gene:

Hs.406620

Evidence on tissue expression from TISSUES for RPS10 Gene

  • Skin(5)
  • Intestine(4.9)
  • Nervous system(4.9)
  • Lung(4.8)
  • Liver(4.6)
  • Bone(4.5)
  • Pancreas(4.5)
  • Eye(4.3)
  • Blood(4.3)
  • Kidney(4.1)
  • Muscle(3.9)
  • Stomach(3.6)
  • Heart(3.2)
  • Bone marrow(2.8)
  • Lymph node(2.6)
  • Spleen(2.3)
  • Thyroid gland(2.3)

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 -- 30
  • 99 (a)
 OneToMany
-- 30
  • 99 (a)
 OneToMany
RPS10 29 30
  • 91.11 (n)
 OneToMany
Chimpanzee
(Pan troglodytes)
 Mammalia LOC742827 29
  • 98.99 (n)
Mouse
(Mus musculus)
 Mammalia Rps10-ps1 30
  • 97 (a)
 OneToMany
Rps10 29 16
  • 91.11 (n)
Cow
(Bos Taurus)
 Mammalia RPS10 29 30
  • 92.73 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 30
  • 92 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Rps10 29
  • 89.09 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 63 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves RPS10 29 30
  • 85.05 (n)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 88 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii rps10 30
  • 91 (a)
 OneToMany
zgc65936 29
Fruit Fly
(Drosophila melanogaster)
 Insecta CG14206 31
  • 65 (a)
RpS10a 29 30
  • 64.14 (n)
 ManyToMany
RpS10b 30
  • 64 (a)
 ManyToMany
BcDNA:LD32148 31
  • 56 (a)
Worm
(Caenorhabditis elegans)
 Secernentea rps-10 30 31
  • 54 (a)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AFR569W 29
  • 56.54 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B08173g 29
  • 55.66 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RPS10A 29 30 32
  • 54.9 (n)
 ManyToMany
RPS10B 30
  • 52 (a)
 ManyToMany
Barley
(Hordeum vulgare)
 Liliopsida Hv.2081 29
Rice
(Oryza sativa)
 Liliopsida Os.20182 29
Wheat
(Triticum aestivum)
 Liliopsida Ta.14409 29
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes rps1001 29
  • 64.1 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU06743 29
  • 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for RPS10

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

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPS10 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1021090 Uncertain Significance: Diamond-Blackfan anemia 34,418,362(-) TACTC/T
NM_001014.5(RPS10):c.456+3_456+6del 		SPLICE_DONOR
834960 Likely Pathogenic: Diamond-Blackfan anemia 34,418,426(-) T/C
NM_001014.5(RPS10):c.401-2A>G 		SPLICE_ACCEPTOR
856444 Uncertain Significance: Diamond-Blackfan anemia; Diamond-Blackfan anemia 9 34,425,182(-) G/A
NM_001014.5(RPS10):c.40C>T (p.Leu14Phe) 		MISSENSE
904984 Benign: Diamond-Blackfan anemia 9 34,418,388(-) G/A
NM_001014.5(RPS10):c.437C>T (p.Ser146Leu) 		MISSENSE
906570 Benign: Diamond-Blackfan anemia 9 34,418,393(-) A/C
NM_001014.5(RPS10):c.432T>G (p.Ala144=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RPS10 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
RPS10

SNP Genotyping and Copy Number Assays for research

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

Disorders for RPS10 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RPS10 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
diamond-blackfan anemia 9
  • dba9
diamond-blackfan anemia
  • blackfan - diamond syndrome
diamond-blackfan anemia 1
  • dba1
macrocytic anemia
  • anemia macrocytic
shwachman-diamond syndrome 1
  • sds1
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for RPS10

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 72
  2. Initiation of Quality Control during Poly(A) Translation Requires Site-Specific Ribosome Ubiquitination. (PMID: 28065601) Juszkiewicz S … Hegde RS (Molecular cell 2017) 3 4 72
  3. 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 72
  4. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. (PMID: 20116044) Doherty L … Gazda HT (American journal of human genetics 2010) 3 4 72
  5. A map of 75 human ribosomal protein genes. (PMID: 9582194) Kenmochi N … Page DC (Genome research 1998) 2 3 4

ExternalLinks

View latest publications for RPS10 gene in Mastermind

Products for RPS10 Gene

  • Addgene plasmids for RPS10

Sources for RPS10 Gene