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    RPS26 ribosomal protein S26 [ Homo sapiens (human) ]

    Gene ID: 6231, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RPS26provided by HGNC
    Official Full Name
    ribosomal protein S26provided by HGNC
    Primary source
    HGNC:HGNC:10414
    See related
    Ensembl:ENSG00000197728 MIM:603701; AllianceGenome:HGNC:10414
    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
    S26; eS26; DBA10
    Summary
    This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in ovary (RPKM 419.1), adrenal (RPKM 280.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RPS26 in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56041918..56044697)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56008421..56011764)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56435702..56438481)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56390834-56391334 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:56394413-56394603 Neighboring gene Sharpr-MPRA regulatory region 2650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56399919-56400540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4542 Neighboring gene sulfite oxidase Neighboring gene uncharacterized LOC105369781 Neighboring gene IKAROS family zinc finger 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56435423-56436212 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56439805-56440398 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56473606-56474596 Neighboring gene erb-b2 receptor tyrosine kinase 3 Neighboring gene uncharacterized LOC105369782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6469

    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. [Mapping of the genes for ribosomal proteins S26, L19, and L32 on human chromosomes]. Filipenko ML, et al. Bioorg Khim, 1995 Nov. PMID 8670309
    2. Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient. Shi X, et al. BMC Med Genet, 2019 Jul 5. PMID 31277601, Free PMC Article
    3. Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry. Cmejla R, et al. Blood Cells Mol Dis, 2011 Apr 15. PMID 21414820
    4. Isolation, structural analysis and mapping of the functional gene of human ribosomal protein S26. Filipenko ML, et al. Gene, 1998 May 12. PMID 9602156
    5. The functional role of the eukaryote-specific motif YxxPKxYxK of the human ribosomal protein eS26 in translation. Bulygin KN, et al. Biochim Biophys Acta Gene Regul Mech, 2022 Aug. PMID 35817369

    See all (201) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of RPS26 gene polymorphism with different types of diabetes in Chinese individuals.
      Title: Association of RPS26 gene polymorphism with different types of diabetes in Chinese individuals.
    2. Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
      Title: Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
    3. The functional role of the eukaryote-specific motif YxxPKxYxK of the human ribosomal protein eS26 in translation.
      Title: The functional role of the eukaryote-specific motif YxxPKxYxK of the human ribosomal protein eS26 in translation.
    4. Mendelian Randomization Analysis Identified Potential Genes Pleiotropically Associated with Polycystic Ovary Syndrome.
      Title: Mendelian Randomization Analysis Identified Potential Genes Pleiotropically Associated with Polycystic Ovary Syndrome.
    5. The final step of 40S ribosomal subunit maturation is controlled by a dual key lock.
      Title: The final step of 40S ribosomal subunit maturation is controlled by a dual key lock.
    6. A novel insert mutation c.96dupG in RPS26 was identified by whole-exome sequencing, which caused neonatal DBA in a Chinese boy. This is the first case report of a Chinese DBA10 patient who carries a small insertion in the RPS26 gene. These findings expand the mutation diversity of RPS26 and demonstrate the clinical presentations of the Chinese DBA10 patient.
      Title: Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.
    7. eS26-ESS and Tsr2 are components of a nuclear sorting system that co-evolved with the emergence of the nucleocytoplasmic barrier and transport carriers
      Title: Molecular basis for disassembly of an importin:ribosomal protein complex by the escortin Tsr2.
    8. Suggest that for nuclear export, nucleophosmin could directly bind to pre-40S subunits in the mRNA exit site region where the C-terminus of eS26 is located.
      Title: The eS26 protein is involved in the formation of a nucleophosmin binding site on the human 40S ribosomal subunit.
    9. RPS26 acts distinctively in different scenarios of p53 activation.
      Title: The ribosomal protein S26 regulates p53 activity in response to DNA damage.
    10. High frequency of RPS26 gene deletion is associated with Italian Diamond-Blackfan anemia.
      Title: High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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

    Associated conditions

    Description Tests
    Diamond-Blackfan anemia 10
    MedGen: C2750080 OMIM: 613309 GeneReviews: Diamond-Blackfan Anemia
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2019-10-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2019-10-23)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
    EBI GWAS Catalog
    Genome-wide association analysis identifies three psoriasis susceptibility loci.
    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)

    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

    • MGC104292

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables cadherin binding HDA PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    		 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 
    Process Evidence Code Pubs
    involved_in cytoplasmic translation IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in cytoplasmic translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytoplasmic translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translation IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytoplasmic side of rough endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    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 ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of small ribosomal subunit HDA PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    small ribosomal subunit protein eS26
    Names
    40S ribosomal protein S26

    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_023201.1 RefSeqGene

      Range
      5017..7796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1146

    mRNA and Protein(s)

    1. NM_001029.5 → NP_001020.2  small ribosomal subunit protein eS26

      Status: REVIEWED

      Source sequence(s)
      AC034102, AV681946, BC002604, CF129685
      Consensus CDS
      CCDS31832.1
      UniProtKB/Swiss-Prot
      P02383, P62854, P70394, Q06722, Q3MHD8, Q6IRY4
      UniProtKB/TrEMBL
      Q75MH1
      Related
      ENSP00000496643.1, ENST00000646449.2
      Conserved Domains (1) summary
      pfam01283
      Location:1 → 101
      Ribosomal_S26e; Ribosomal protein S26e

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56041918..56044697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56008421..56011764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372836.1 → XP_054228811.1  small ribosomal subunit protein eS26 isoform X1

      UniProtKB/Swiss-Prot
      P02383, P62854, P70394, Q06722, Q3MHD8, Q6IRY4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P62854.3 GenPept UniProtKB/Swiss-Prot:P62854

    Gene LinkOut

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

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