Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RPS23 Gene

Aliases for RPS23 Gene

  • Ribosomal Protein S23 2 3 5
  • Small Ribosomal Subunit Protein US12 3 4
  • Homolog Of Yeast Ribosomal Protein S28 3
  • 40S Ribosomal Protein S23 3
  • MABAS 3
  • MCINS 3
  • PAMAS 3
  • BTDD 3
  • S23 3

External Ids for RPS23 Gene

Previous GeneCards Identifiers for RPS23 Gene

  • GC05M080389
  • GC05M081796
  • GC05M081608
  • GC05M081655
  • GC05M081607
  • GC05M076778
  • GC05M081569

Summaries for RPS23 Gene

Entrez Gene Summary for RPS23 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 S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

GeneCards Summary for RPS23 Gene

RPS23 (Ribosomal Protein S23) is a Protein Coding gene. Diseases associated with RPS23 include Brachycephaly, Trichomegaly, And Developmental Delay and Trichomegaly. Among its related pathways are Viral mRNA Translation and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

UniProtKB/Swiss-Prot for RPS23 Gene

  • Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:28257692). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (By similarity). Plays an important role in translational accuracy (PubMed:28257692).

Gene Wiki entry for RPS23 Gene

Additional gene information for RPS23 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS23 Gene

Genomics for RPS23 Gene

GeneHancer (GH) Regulatory Elements for RPS23 Gene

Promoters and enhancers for RPS23 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
GH05I082276 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 560.7 +0.6 600 3.6 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF207 ZNF143 ATP6AP1L RPS23 GC05P082278 GC05M082258 ZCCHC9 ATG10 CKMT2-AS1 ENSG00000251374
GH05I081970 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.4 +306.8 306801 2.8 HDGF FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF766 ATG10 ATP6AP1L RPS23 SEM1P1
GH05I081748 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.6 +528.0 528038 4.5 CLOCK FEZF1 IRF4 YY1 ZNF213 SP3 ZNF610 GLIS1 NR2C1 NBN SSBP2 ZCCHC9 CKMT2-AS1 RPS23 ATG10 GC05M081517
GH05I083095 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 11.6 -818.6 -818605 3.8 PKNOX1 ZNF133 FEZF1 GLI4 ZNF2 GLIS2 ZNF213 ZNF302 ATF7 KLF7 XRCC4 ATP6AP1L RPS23 SCARNA18 LOC105379052 TMEM167A RPL13P9
GH05I082356 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -79.0 -79022 2.2 HDGF PKNOX1 ARNT POLR2B ZNF766 CBX5 FOS REST ZNF592 SMARCA4 ATG10 RPS23 GC05M082354 GC05M082258 ATP6AP1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPS23 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPS23 gene promoter:

Genomic Locations for RPS23 Gene

Genomic Locations for RPS23 Gene
chr5:82,273,320-82,278,577
(GRCh38/hg38)
Size:
5,258 bases
Orientation:
Minus strand
chr5:81,569,139-81,574,396
(GRCh37/hg19)

Genomic View for RPS23 Gene

Genes around RPS23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS23 Gene

Proteins for RPS23 Gene

  • Protein details for RPS23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62266-RS23_HUMAN
    Recommended name:
    40S ribosomal protein S23
    Protein Accession:
    P62266
    Secondary Accessions:
    • P39028
    • Q6IB08

    Protein attributes for RPS23 Gene

    Size:
    143 amino acids
    Molecular mass:
    15808 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RPS23 Gene

neXtProt entry for RPS23 Gene

Post-translational modifications for RPS23 Gene

  • Hydroxylation at Pro-62 affects translation termination efficiency.
  • Ubiquitination at posLast=3737, posLast=4848, and posLast=5454
  • Modification sites at PhosphoSitePlus

Other Protein References for RPS23 Gene

No data available for DME Specific Peptides for RPS23 Gene

Domains & Families for RPS23 Gene

Gene Families for RPS23 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for RPS23 Gene

Suggested Antigen Peptide Sequences for RPS23 Gene

Graphical View of Domain Structure for InterPro Entry

P62266

UniProtKB/Swiss-Prot:

RS23_HUMAN :
  • Belongs to the universal ribosomal protein uS12 family.
Family:
  • Belongs to the universal ribosomal protein uS12 family.
genes like me logo Genes that share domains with RPS23: view

Function for RPS23 Gene

Molecular function for RPS23 Gene

GENATLAS Biochemistry:
60S ribosomal protein S23
UniProtKB/Swiss-Prot Function:
Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:28257692). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (By similarity). Plays an important role in translational accuracy (PubMed:28257692).

Phenotypes From GWAS Catalog for RPS23 Gene

Gene Ontology (GO) - Molecular Function for RPS23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,HDA 22681889
GO:0003735 structural constituent of ribosome IMP,IEA 28257692
GO:0005515 protein binding IPI 20434207
genes like me logo Genes that share ontologies with RPS23: view
genes like me logo Genes that share phenotypes with RPS23: view

Human Phenotype Ontology for RPS23 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS23 Gene

Localization for RPS23 Gene

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 RPS23 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPS23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005654 nucleoplasm TAS --
GO:0005783 endoplasmic reticulum IDA --
GO:0005829 cytosol TAS --
GO:0005840 ribosome IEA,NAS 8415000
genes like me logo Genes that share ontologies with RPS23: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPS23 Gene

Pathways & Interactions for RPS23 Gene

SuperPathways for RPS23 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
.55
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
3 Influenza Viral RNA Transcription and Replication
4 rRNA processing in the nucleus and cytosol
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with RPS23: view

Gene Ontology (GO) - Biological Process for RPS23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0006364 rRNA processing TAS --
GO:0006412 translation IEA,IMP 28257692
GO:0006413 translational initiation TAS --
GO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS --
genes like me logo Genes that share ontologies with RPS23: view

No data available for SIGNOR curated interactions for RPS23 Gene

Drugs & Compounds for RPS23 Gene

No Compound Related Data Available

Transcripts for RPS23 Gene

Unigene Clusters for RPS23 Gene

Ribosomal protein S23:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPS23 Gene

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

Relevant External Links for RPS23 Gene

GeneLoc Exon Structure for
RPS23
ECgene alternative splicing isoforms for
RPS23

Expression for RPS23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPS23 Gene

Protein differential expression in normal tissues from HIPED for RPS23 Gene

This gene is overexpressed in Nasal epithelium (9.1), Cervix (8.4), and Tlymphocyte (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPS23 Gene



Protein tissue co-expression partners for RPS23 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPS23 Gene:

RPS23

SOURCE GeneReport for Unigene cluster for RPS23 Gene:

Hs.527193

Evidence on tissue expression from TISSUES for RPS23 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Muscle(4)
  • Lung(3.9)
  • Intestine(3.8)
  • Pancreas(3.8)
  • Eye(3.6)
  • Skin(3.3)
  • Blood(3)
  • Stomach(2.9)
  • Heart(2.8)
  • Spleen(2.8)
  • Lymph node(2.7)
  • Bone marrow(2.6)
  • Adrenal gland(2.5)
  • Thyroid gland(2.5)
  • Kidney(2.4)
  • Gall bladder(2.3)
genes like me logo Genes that share expression patterns with RPS23: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS23 Gene

Orthologs for RPS23 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS23 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia RPS23 34
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPS23 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RPS23 33 34
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia RPS23 33 34
  • 92.77 (n)
rat
(Rattus norvegicus)
Mammalia Rps23 33
  • 90.68 (n)
mouse
(Mus musculus)
Mammalia Rps23 33 16 34
  • 89.74 (n)
dog
(Canis familiaris)
Mammalia RPS23 33 34
  • 87.65 (n)
chicken
(Gallus gallus)
Aves RPS23 33 34
  • 83.92 (n)
lizard
(Anolis carolinensis)
Reptilia RPS23 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rps23 33
  • 82.75 (n)
Str.1679 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25836 33
zebrafish
(Danio rerio)
Actinopterygii rps23 33 34
  • 84.15 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8559 33
fruit fly
(Drosophila melanogaster)
Insecta CG8415 35
  • 90 (a)
RpS23 33 34
  • 76.46 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012990 33
  • 73.19 (n)
worm
(Caenorhabditis elegans)
Secernentea rps-23 35 33 34
  • 71.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS23B 34 36
  • 77 (a)
OneToMany
RPS23A 33 34
  • 68.31 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B11231g 33
  • 66.2 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR108C 33
  • 65.96 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G09680 33
  • 69.95 (n)
soybean
(Glycine max)
eudicotyledons Gma.15234 33
rice
(Oryza sativa)
Liliopsida Os.9075 33
wheat
(Triticum aestivum)
Liliopsida Ta.1335 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 86 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01552 33
  • 69.01 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rps2302 33
  • 67.37 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5143 33
Species where no ortholog for RPS23 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RPS23 Gene

ENSEMBL:
Gene Tree for RPS23 (if available)
TreeFam:
Gene Tree for RPS23 (if available)

Paralogs for RPS23 Gene

No data available for Paralogs for RPS23 Gene

Variants for RPS23 Gene

Sequence variations from dbSNP and Humsavar for RPS23 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1060505034 pathogenic, MacInnes syndrome 82,276,483(-) C/T coding_sequence_variant, missense_variant
rs1060505035 pathogenic, MacInnes syndrome 82,276,183(-) A/T coding_sequence_variant, missense_variant
VAR_079133 Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412] p.Arg67Lys
VAR_079134 Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412] p.Phe120Ile
rs1000912449 -- 82,274,241(-) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for RPS23 Gene

Variant ID Type Subtype PubMed ID
esv2676657 CNV deletion 23128226
esv3566179 CNV deletion 23714750
esv3605612 CNV loss 21293372
nsv1114699 CNV deletion 24896259
nsv520938 CNV gain 19592680
nsv830364 CNV loss 17160897
nsv968216 CNV duplication 23825009

Variation tolerance for RPS23 Gene

Residual Variation Intolerance Score: 49.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPS23 Gene

Human Gene Mutation Database (HGMD)
RPS23
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS23

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS23 Gene

Disorders for RPS23 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RPS23 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RPS23 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RS23_HUMAN
  • Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412]: An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients. {ECO:0000269 PubMed:28257692}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPS23

genes like me logo Genes that share disorders with RPS23: view

No data available for Genatlas for RPS23 Gene

Publications for RPS23 Gene

  1. A map of 75 human ribosomal protein genes. (PMID: 9582194) Kenmochi N … Page DC (Genome research 1998) 2 3 4 58
  2. A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. (PMID: 28257692) Paolini NA … MacInnes AW (American journal of human genetics 2017) 3 4 58
  3. Hydroxylation of the eukaryotic ribosomal decoding center affects translational accuracy. (PMID: 24550462) Loenarz C … Schofield CJ (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Characterization of the human small-ribosomal-subunit proteins by N-terminal and internal sequencing, and mass spectrometry. (PMID: 8706699) Vladimirov SN … Otto A (European journal of biochemistry 1996) 3 4 58

Products for RPS23 Gene

Sources for RPS23 Gene

Content
Loading form....