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    RPS20 ribosomal protein S20 [ Homo sapiens (human) ]

    Gene ID: 6224, updated on 5-May-2024

    Summary

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    Official Symbol
    RPS20provided by HGNC
    Official Full Name
    ribosomal protein S20provided by HGNC
    Primary source
    HGNC:HGNC:10405
    See related
    Ensembl:ENSG00000008988 MIM:603682; AllianceGenome:HGNC:10405
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    S20; uS10
    Summary
    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 S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2009]
    Expression
    Ubiquitous expression in ovary (RPKM 727.4), fat (RPKM 436.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPS20 in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (56067254..56074506, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (56444256..56451508, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (56979813..56987065, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 323, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19209 Neighboring gene NANOG hESC enhancer GRCh37_chr8:56960415-56960946 Neighboring gene proteasome 26S subunit, ATPase, 6 pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 54 Neighboring gene competing endogenous lncRNA 3 for miR-645 Neighboring gene nucleophosmin 1 pseudogene 21

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Biochemical and clinical effects of RPS20 expression in renal clear cell carcinoma. Shen C, et al. Oncol Rep, 2023 Jan. PMID 36484407, Free PMC Article
    2. A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis. Thompson BA, et al. Clin Genet, 2020 Jun. PMID 32424863
    3. Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Nieminen TT, et al. Gastroenterology, 2014 Sep. PMID 24941021, Free PMC Article
    4. Human ribosomal protein S20 cDNA sequence. Chu W, et al. Nucleic Acids Res, 1993 Apr 11. PMID 8479924, Free PMC Article
    5. Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Bhar S, et al. Hum Mutat, 2020 Nov. PMID 32790018, Free PMC Article

    See all (216) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deficiency of the ribosomal protein uS10 (RPS20) reorganizes human cells translatome according to the abundance, CDS length and GC content of mRNAs.
      Title: Deficiency of the ribosomal protein uS10 (RPS20) reorganizes human cells translatome according to the abundance, CDS length and GC content of mRNAs.
    2. Prospective study: expression levels of microRNA-7-3p and its target STAT3 in head and neck cancer.
      Title: Prospective study: expression levels of microRNA-7-3p and its target STAT3 in head and neck cancer.
    3. Biochemical and clinical effects of RPS20 expression in renal clear cell carcinoma.
      Title: Biochemical and clinical effects of RPS20 expression in renal clear cell carcinoma.
    4. Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
      Title: Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
    5. A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.
      Title: A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.
    6. cross-talk between GNL1 and RPS20 is critical to promote cell proliferation.
      Title: Interplay between human nucleolar GNL1 and RPS20 is critical to modulate cell proliferation.
    7. We therefore found published evidence to support the association between variants in NTHL1 and RPS20 with CRC.
      Title: Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.
    8. increased expression of RPS11 and RPS20 predicts shorter patient survival. treatment-resistant GSC clones are clinically relevant cells that represent resistant tumorigenic clones from patient tumors and that their properties
      Title: Ribosomal Proteins RPS11 and RPS20, Two Stress-Response Markers of Glioblastoma Stem Cells, Are Novel Predictors of Poor Prognosis in Glioblastoma Patients.
    9. Mutations in RPS20 can predispose individuals to microsatellite-stable hereditary nonpolyposis colorectal carcinoma.
      Title: Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
    10. RPL37, RPS15 and RPS20 regulate the Mdm2-p53-MdmX network but employ different mechanisms to do so.
      Title: Ribosomal proteins RPL37, RPS15 and RPS20 regulate the Mdm2-p53-MdmX network.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef immunocomplexes analyzed by mass spectrometry reveal that ribosomal protein S20 (RPS20) is a Nef-binding protein in Jurkat cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ27451, MGC102930

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MDM2/MDM4 family protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of ribosome HDA PubMed 
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables structural constituent of ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables ubiquitin ligase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoplasmic translation IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in cytoplasmic translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of signal transduction by p53 class mediator IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translation IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in cytosolic ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of cytosolic small ribosomal subunit HDA PubMed 
    part_of cytosolic small ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytosolic small ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of cytosolic small ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    small ribosomal subunit protein uS10
    Names
    40S ribosomal protein S20

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042872.1 RefSeqGene

      Range
      5076..6528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001023.4 → NP_001014.1  small ribosomal subunit protein uS10 isoform 2

      See identical proteins and their annotated locations for NP_001014.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC007507, CB138358
      Consensus CDS
      CCDS6163.1
      UniProtKB/Swiss-Prot
      B2R4F4, B4DW28, P17075, P60866, Q5M8S9
      Related
      ENSP00000009589.3, ENST00000009589.8
      Conserved Domains (1) summary
      cl00314
      Location:16 → 116
      Ribosomal_S10; Ribosomal protein S10p/S20e

    2. NM_001146227.3 → NP_001139699.1  small ribosomal subunit protein uS10 isoform 1

      See identical proteins and their annotated locations for NP_001139699.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC107376, AK301342, CD671362
      Consensus CDS
      CCDS55231.1
      UniProtKB/TrEMBL
      A0A7P0S5H5
      Related
      ENSP00000429374.1, ENST00000519807.5
      Conserved Domains (1) summary
      cl00314
      Location:16 → 112
      Ribosomal_S10; Ribosomal protein S10p/S20e

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      56067254..56074506 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      56444256..56451508 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60866.1 GenPept UniProtKB/Swiss-Prot:P60866

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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