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    RPL5 ribosomal protein L5 [ Homo sapiens (human) ]

    Gene ID: 6125, updated on 4-Feb-2024

    Summary

    Official Symbol
    RPL5provided by HGNC
    Official Full Name
    ribosomal protein L5provided by HGNC
    Primary source
    HGNC:HGNC:10360
    See related
    Ensembl:ENSG00000122406 MIM:603634; AllianceGenome:HGNC:10360
    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
    L5; uL18; MSTP030; PPP1R135
    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 four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]
    Expression
    Ubiquitous expression in ovary (RPKM 1433.7), thyroid (RPKM 620.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See RPL5 in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (92831986..92841924)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92677128..92687066)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (93297543..93307481)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ecotropic viral integration site 5 Neighboring gene NANOG hESC enhancer GRCh37_chr1:93239902-93240565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1318 Neighboring gene cyclin J pseudogene 2 Neighboring gene H3 histone pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1319 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:93297399-93298037 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:93298038-93298675 Neighboring gene uncharacterized LOC124900443 Neighboring gene small nucleolar RNA, C/D box 21 Neighboring gene divergent protein kinase domain 1A Neighboring gene small nucleolar RNA, H/ACA box 66 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:93367921-93368420 Neighboring gene MND1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Diamond-Blackfan anemia 6
    MedGen: C2931850 OMIM: 612561 GeneReviews: Diamond-Blackfan Anemia
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Risk alleles for multiple sclerosis identified by a genomewide study.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify ribosomal protein L5 (RPL5), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify ribosomal protein L5 (RPL5), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify ribosomal protein L5 (RPL5), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify ribosomal protein L5 (RPL5), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Rev rev ribosomal protein L5 interacts with eukaryotic initiation factor 5A (eIF-5A) as a cofactor for the Rev nuclear export activity of eIF-5A PubMed
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human 60S ribosomal protein L5 (RPL5) at amino acid residues 135-136 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC117339

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5S rRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 5S rRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA 5'-UTR 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 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 
    enables ubiquitin ligase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    large ribosomal subunit protein uL18
    Names
    60S ribosomal protein L5
    protein phosphatase 1, regulatory subunit 135
    NP_000960.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011779.2 RefSeqGene

      Range
      5055..14939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1155

    mRNA and Protein(s)

    1. NM_000969.5NP_000960.2  large ribosomal subunit protein uL18

      See identical proteins and their annotated locations for NP_000960.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
      Source sequence(s)
      AF113210, BP247508, N67963
      Consensus CDS
      CCDS741.1
      UniProtKB/Swiss-Prot
      P46777, Q32LZ3, Q53HH6, Q9H3F4
      UniProtKB/TrEMBL
      A2RUM7, Q59GX9
      Related
      ENSP00000359345.2, ENST00000370321.8
      Conserved Domains (1) summary
      PTZ00069
      Location:1295
      PTZ00069; 60S ribosomal protein L5; Provisional

    RNA

    1. NR_146333.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL162740, BC001882, BP247508, N67963

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      92831986..92841924
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      92677128..92687066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)