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    MRPL23 mitochondrial ribosomal protein L23 [ Homo sapiens (human) ]

    Gene ID: 6150, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MRPL23provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L23provided by HGNC
    Primary source
    HGNC:HGNC:10322
    See related
    Ensembl:ENSG00000214026 MIM:600789; AllianceGenome:HGNC:10322
    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
    RPL23; uL23m; L23MRP; RPL23L
    Summary
    Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 5.6), skin (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL23 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1947332..2014944)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2035120..2102503)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1968562..2036174)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:1918050-1919249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1927717-1928218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1928219-1928718 Neighboring gene long intergenic non-protein coding RNA 1150 Neighboring gene proline rich 33 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4295 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:1956346-1956534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1956988-1957585 Neighboring gene troponin T3, fast skeletal type Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1970491-1971228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1979269-1980047 Neighboring gene VISTA enhancer hs1488 Neighboring gene small nucleolar RNA, C/D box 131 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2003101-2003870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2004639-2005408 Neighboring gene H19/IGF2 enhancer region Neighboring gene MRPL23 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2018584-2019431 Neighboring gene long intergenic non-protein coding RNA 1219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2034666-2035394 Neighboring gene H19/IGF2 imprinting control region Neighboring gene microRNA 675 Neighboring gene H19 imprinted maternally expressed transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2118490-2119132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2121061-2121703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2121704-2122345 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2135598-2135868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2148496-2149320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2155593-2156179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2158413-2159034 Neighboring gene INS-IGF2 readthrough Neighboring gene microRNA 483 Neighboring gene insulin like growth factor 2 Neighboring gene IGF2 antisense RNA

    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. A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues. Tsang P, et al. Hum Mol Genet, 1995 Sep. PMID 8541832
    2. Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. Song H, et al. Hum Mol Genet, 2009 Jun 15. PMID 19304784, Free PMC Article
    3. 5-fluorouracil activation of p53 involves an MDM2-ribosomal protein interaction. Sun XX, et al. J Biol Chem, 2007 Mar 16. PMID 17242401
    4. Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease. O'Brien TW. Gene, 2002 Mar 6. PMID 11943462
    5. GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. Rentería ME, et al. Twin Res Hum Genet, 2013 Aug. PMID 23725790

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    2. Meta-analysis of gene-disease association. (HuGE Navigator)
      Title: Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.
    3. 5-FU treatment triggers a ribosomal stress response so that ribosomal proteins L5, L11, and L23 are released from ribosome to activate p53 by ablating the MDM2-p53 feedback circuit
      Title: 5-fluorouracil activation of p53 involves an MDM2-ribosomal protein interaction.
    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

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
    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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    Replication interactions

    Interaction Pubs
    Knockdown of mitochondrial ribosomal protein L23 (MRPL23) by siRNA inhibits HIV-1 replication in HeLa P4/R5 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

    • FLJ45387

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding TAS
    Traceable Author Statement
    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
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in translation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of mitochondrial large ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial large ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein uL23m
    Names
    39S ribosomal protein L23, mitochondrial
    L23 mitochondrial-related protein
    L23mt
    MRP-L23
    mitochondrial large ribosomal subunit protein uL23m
    ribosomal protein related to L23 (mitochondrial)

    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.

    mRNA and Protein(s)

    1. NM_001400172.1 → NP_001387101.1  large ribosomal subunit protein uL23m isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC051649

    2. NM_001400174.1 → NP_001387103.1  large ribosomal subunit protein uL23m isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC051649
      Related
      ENSP00000407156.1, ENST00000429295.1

    3. NM_001400176.1 → NP_001387105.1  large ribosomal subunit protein uL23m isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC051649, AC123789

    4. NM_001400179.1 → NP_001387108.1  large ribosomal subunit protein uL23m isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC051649
      Consensus CDS
      CCDS91408.1
      UniProtKB/TrEMBL
      A8MYK1
      Related
      ENSP00000380465.3, ENST00000397297.7

    5. NM_001400182.1 → NP_001387111.1  large ribosomal subunit protein uL23m isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC051649
      Consensus CDS
      CCDS91407.1
      UniProtKB/TrEMBL
      A6NJD9
      Related
      ENSP00000370925.3, ENST00000381514.7

    6. NM_021134.4 → NP_066957.3  large ribosomal subunit protein uL23m isoform 1

      See identical proteins and their annotated locations for NP_066957.3

      Status: REVIEWED

      Source sequence(s)
      BC027710, CN310387
      Consensus CDS
      CCDS31336.1
      UniProtKB/Swiss-Prot
      A8MT29, Q16540, Q96Q71
      UniProtKB/TrEMBL
      A0AAG2SUK6, B2R9J4
      Related
      ENSP00000380466.3, ENST00000397298.8
      Conserved Domains (1) summary
      pfam00276
      Location:42 → 105
      Ribosomal_L23; Ribosomal protein L23

    RNA

    1. NR_174403.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC051649

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      1947332..2014944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520273.2 → XP_011518575.1  large ribosomal subunit protein uL23m isoform X1

      Conserved Domains (1) summary
      pfam00276
      Location:42 → 100
      Ribosomal_L23; Ribosomal protein L23

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160004.1 Reference GRCh38.p14 PATCHES

      Range
      139854..207466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332446.1 → XP_054188421.1  large ribosomal subunit protein uL23m isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2035120..2102503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369612.1 → XP_054225587.1  large ribosomal subunit protein uL23m isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16540.1 GenPept UniProtKB/Swiss-Prot:Q16540

    Gene LinkOut

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

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