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    RPL26 ribosomal protein L26 [ Homo sapiens (human) ]

    Gene ID: 6154, updated on 7-Apr-2024

    Summary

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    Official Symbol
    RPL26provided by HGNC
    Official Full Name
    ribosomal protein L26provided by HGNC
    Primary source
    HGNC:HGNC:10327
    See related
    Ensembl:ENSG00000161970 MIM:603704; AllianceGenome:HGNC:10327
    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
    L26; uL24; DBA11
    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 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
    Expression
    Ubiquitous expression in ovary (RPKM 654.6), bone marrow (RPKM 461.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17p13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8377516..8383193, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8283737..8289839, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8280834..8286511, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8257795-8258364 Neighboring gene uncharacterized LOC100128288 Neighboring gene outer dense fiber of sperm tails 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8279661-8280212 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8285969-8286686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8286687-8287404 Neighboring gene KRAB-A domain containing 2 Neighboring gene Sharpr-MPRA regulatory region 12124 Neighboring gene ring finger protein 222 Neighboring gene Sharpr-MPRA regulatory regions 4336 and 10869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8184 Neighboring gene nudE neurodevelopment protein 1 like 1 Neighboring gene MPRA-validated peak2716 silencer Neighboring gene MPRA-validated peak2717 silencer Neighboring gene myosin heavy chain 10

    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. A tale of two ends. Towers CG, et al. Cell Cycle, 2016 Jun 17. PMID 27101085, Free PMC Article
    2. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Gazda HT, et al. Hum Mutat, 2012 Jul. PMID 22431104, Free PMC Article
    3. p73 expression is regulated by ribosomal protein RPL26 through mRNA translation and protein stability. Zhang M, et al. Oncotarget, 2016 Nov 29. PMID 27825141, Free PMC Article
    4. Investigating the cellular distribution and interactions of HIV-1 nucleocapsid protein by quantitative fluorescence microscopy. Anton H, et al. PLoS One, 2015. PMID 25723396, Free PMC Article
    5. Silencing expression of ribosomal protein L26 and L29 by RNA interfering inhibits proliferation of human pancreatic cancer PANC-1 cells. Li C, et al. Mol Cell Biochem, 2012 Nov. PMID 22868929

    See all (165) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ionizing radiation (IR) inhibits the activity of SMG1, a phosphoinositide-3-kinase-like kinase family member, reducing the binding of SMG1 to a specific region near exon 9 of p53 precursor mRNA and promoting the binding of ribosomal protein L26 (RPL26) to p53 pre-mRNA
      Title: Identification of a DNA Damage-Induced Alternative Splicing Pathway That Regulates p53 and Cellular Senescence Markers.
    2. In colorectal tumor cells RPL26 regulates p73 expression via two distinct mechanisms: protein stability and mRNA translation.
      Title: p73 expression is regulated by ribosomal protein RPL26 through mRNA translation and protein stability.
    3. Six1 regulates p53 via a dual mechanism involving upregulation of microRNA-27a and downregulation of RPL26.
      Title: The Six1 oncoprotein downregulates p53 via concomitant regulation of RPL26 and microRNA-27a-3p.
    4. The results showed that knockdown of RPL26 or RPL29 expression significantly suppressed cell proliferation, induced cell arrest at G0/G1 phase and enhanced cell apoptosis
      Title: Silencing expression of ribosomal protein L26 and L29 by RNA interfering inhibits proliferation of human pancreatic cancer PANC-1 cells.
    5. Northern Blot Together with RPL5, RPL11, and RPS7, RPL26 is the fourth RP regulating p53 activity that is linked to diamond-blackfan anemia.
      Title: Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
    6. suggest a model in which the base pairings in the p53 UTR interaction regions are critical for both translational repression and stress induction of p53 by NCL and RPL26
      Title: Interactions of nucleolin and ribosomal protein L26 (RPL26) in translational control of human p53 mRNA.
    7. Mdm2 binds L26 and drives its polyubiquitylation and proteasomal degradation.
      Title: Mdm2 regulates p53 mRNA translation through inhibitory interactions with ribosomal protein L26.
    Submit: New GeneRIF Correction

    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 11
    MedGen: C3554042 OMIM: 614900 GeneReviews: Diamond-Blackfan Anemia
    		Compare labs

    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
    nucleocapsid gag HIV-1 NC co-localizes with ribosomal protein RPL26 in the cytoplasm 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA 5'-UTR binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables structural constituent of ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to UV IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cytoplasmic translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoplasmic translation IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in rRNA processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of translation involved in cellular response to UV IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribosomal large subunit biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal large subunit biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of cytosolic large ribosomal subunit HDA PubMed 
    part_of cytosolic large ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytosolic large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosolic ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ribonucleoprotein complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    large ribosomal subunit protein uL24
    Names
    60S ribosomal protein L26

    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_031989.1 RefSeqGene

      Range
      5055..10732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1125

    mRNA and Protein(s)

    1. NM_000987.5 → NP_000978.1  large ribosomal subunit protein uL24

      See identical proteins and their annotated locations for NP_000978.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK311804, BC071664, BM928617
      Consensus CDS
      CCDS11142.1
      UniProtKB/Swiss-Prot
      B2R4F0, D3DTR8, P61254, Q02877, Q6IPY2
      UniProtKB/TrEMBL
      Q6IBH6
      Related
      ENSP00000498177.1, ENST00000648839.1
      Conserved Domains (1) summary
      pfam16906
      Location:8 → 122
      Ribosomal_L26; Ribosomal proteins L26 eukaryotic, L24P archaeal

    2. NM_001315530.2 → NP_001302459.1  large ribosomal subunit protein uL24

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC135178, BC071664, BI603704, BM928617
      Consensus CDS
      CCDS11142.1
      UniProtKB/Swiss-Prot
      B2R4F0, D3DTR8, P61254, Q02877, Q6IPY2
      UniProtKB/TrEMBL
      Q6IBH6
      Related
      ENSP00000463784.1, ENST00000584164.6
      Conserved Domains (1) summary
      pfam16906
      Location:8 → 122
      Ribosomal_L26; Ribosomal proteins L26 eukaryotic, L24P archaeal

    3. NM_001315531.2 → NP_001302460.1  large ribosomal subunit protein uL24

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC135178, BC071664, BI596427, BM928617
      Consensus CDS
      CCDS11142.1
      UniProtKB/Swiss-Prot
      B2R4F0, D3DTR8, P61254, Q02877, Q6IPY2
      UniProtKB/TrEMBL
      Q6IBH6
      Related
      ENSP00000463470.1, ENST00000582556.5
      Conserved Domains (1) summary
      pfam16906
      Location:8 → 122
      Ribosomal_L26; Ribosomal proteins L26 eukaryotic, L24P archaeal

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      8377516..8383193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      8283737..8289839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316869.1 → XP_054172844.1  large ribosomal subunit protein uL24 isoform X1

      UniProtKB/Swiss-Prot
      B2R4F0, D3DTR8, P61254, Q02877, Q6IPY2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P61254.1 GenPept UniProtKB/Swiss-Prot:P61254

    Gene LinkOut

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

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