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RPS26 ribosomal protein S26 [ Homo sapiens (human) ]

Gene ID: 6231, updated on 3-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
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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 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)

Genotypes

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

    See identical proteins and their annotated locations for NP_001020.2

    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

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