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

Gene ID: 6150, updated on 21-Dec-2019

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
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; 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

Genomic context

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See MRPL23 in Genome Data Viewer
Location:
11p15.5
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (1947272..2013176)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1968502..2007295)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1150 Neighboring gene troponin T3, fast skeletal type Neighboring gene small nucleolar RNA, C/D box 131 Neighboring gene VISTA enhancer hs1488 Neighboring gene H19/IGF2 enhancer region Neighboring gene MRPL23 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 1219 Neighboring gene H19/IGF2 imprinting control region Neighboring gene microRNA 675 Neighboring gene H19 opposite tumor suppressor Neighboring gene H19 imprinted maternally expressed transcript 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
  • 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 (41) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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

NHGRI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
NHGRI GWA Catalog
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
NHGRI GWA 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
RNA binding TAS
Traceable Author Statement
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mitochondrial translational elongation TAS
Traceable Author Statement
more info
  
mitochondrial translational termination TAS
Traceable Author Statement
more info
  
translation TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
fibrillar center IDA
Inferred from Direct Assay
more info
  
mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
mitochondrial large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
39S ribosomal protein L23, mitochondrial
Names
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_021134.4 → NP_066957.3  39S ribosomal protein L23, mitochondrial

    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
    Q16540
    UniProtKB/TrEMBL
    A0A024RCB2
    Related
    ENSP00000380466.3, ENST00000397298.8
    Conserved Domains (1) summary
    pfam00276
    Location:42 → 105
    Ribosomal_L23; Ribosomal protein L23

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    1947272..2013176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520275.2 → XP_011518577.1  39S ribosomal protein L23, mitochondrial isoform X2

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

  2. XM_011520273.1 → XP_011518575.1  39S ribosomal protein L23, mitochondrial isoform X1

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

  3. XM_011520276.3 → XP_011518578.1  39S ribosomal protein L23, mitochondrial isoform X3

    UniProtKB/TrEMBL
    A8MYK1
    Related
    ENSP00000380465.3, ENST00000397297.7
    Conserved Domains (1) summary
    pfam00276
    Location:42 → 100
    Ribosomal_L23; Ribosomal protein L23

  4. XM_006718271.2 → XP_006718334.1  39S ribosomal protein L23, mitochondrial isoform X4

    Related
    ENSP00000407156.1, ENST00000429295.1
    Conserved Domains (1) summary
    pfam00276
    Location:42 → 101
    Ribosomal_L23; Ribosomal protein L23

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160004.1 Reference GRCh38.p13 PATCHES

    Range
    139854..149122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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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