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    MRPL42 mitochondrial ribosomal protein L42 [ Homo sapiens (human) ]

    Gene ID: 28977, updated on 5-May-2024

    Summary

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    Official Symbol
    MRPL42provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L42provided by HGNC
    Primary source
    HGNC:HGNC:14493
    See related
    Ensembl:ENSG00000198015 MIM:611847; AllianceGenome:HGNC:14493
    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
    mL42; L31MT; L42MT; S32MT; MRPL31; MRPS32; PTD007; RPML31; HSPC204; MRP-L31; MRP-L42; MRP-S32
    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 protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]
    Expression
    Ubiquitous expression in adrenal (RPKM 12.4), thyroid (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (93467514..93516214)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (93448482..93497696)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (93861290..93909990)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC643339 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4704 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:93764071-93765034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:93771297-93772236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6768 Neighboring gene nudix hydrolase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4708 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:93835621-93836258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4709 Neighboring gene ubiquitin conjugating enzyme E2 N Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6770 Neighboring gene uncharacterized LOC124902985 Neighboring gene RNA, 7SL, cytoplasmic 737, pseudogene Neighboring gene MPRA-validated peak1894 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4713 Neighboring gene SOCS2 antisense RNA 1 Neighboring gene suppressor of cytokine signaling 2

    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. Knockdown of MRPL42 suppresses glioma cell proliferation by inducing cell cycle arrest and apoptosis. Hao C, et al. Biosci Rep, 2018 Apr 27. PMID 29531015, Free PMC Article
    2. [Comparative analysis of the role of CD4(+) and CD8(+) T cells in severe asthma development]. Wang X, et al. Mol Biol (Mosk), 2015 May-Jun. PMID 26107902
    3. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. Koc EC, et al. J Biol Chem, 2001 Nov 23. PMID 11551941
    4. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Kenmochi N, et al. Genomics, 2001 Sep. PMID 11543634
    5. The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present. Cavdar Koc E, et al. J Biol Chem, 2001 Jun 1. PMID 11279123

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MRPL42 is a novel oncogene in glioma and might help us develop promising targetted therapies for glioma patients.
      Title: Knockdown of MRPL42 suppresses glioma cell proliferation by inducing cell cycle arrest and apoptosis.
    2. MPO and BPI in CD4(+)T-lymphocytes, and PDHA1 and MRPL42 in CD8(+) T-lymphocytes might be used as specific biomarkers of severe asthma progression.
      Title: [Comparative analysis of the role of CD4(+) and CD8(+) T cells in severe asthma development].
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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
    Many sequence variants affecting diversity of adult human height.
    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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    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev is identified to have a physical interaction with mitochondrial ribosomal protein L42 (MRPL42) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses 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 structural constituent of ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 
    part_of mitochondrial small ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    large ribosomal subunit protein mL42
    Names
    28S ribosomal protein S32, mitochondrial
    39S ribosomal protein L31, mitochondrial
    39S ribosomal protein L42, mitochondrial
    mitochondrial large ribosomal subunit protein mL42

    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_014050.4 → NP_054769.1  large ribosomal subunit protein mL42 precursor

      See identical proteins and their annotated locations for NP_054769.1

      Status: REVIEWED

      Source sequence(s)
      AC025260
      Consensus CDS
      CCDS9045.1
      UniProtKB/Swiss-Prot
      Q6FID1, Q96Q48, Q9P0S1, Q9Y6G3
      UniProtKB/TrEMBL
      J3KPP0
      Related
      ENSP00000449884.1, ENST00000549982.6
      Conserved Domains (1) summary
      pfam10210
      Location:47 → 142
      MRP-S32; Mitochondrial 28S ribosomal protein S32

    2. NM_172177.5 → NP_751917.1  large ribosomal subunit protein mL42 precursor

      See identical proteins and their annotated locations for NP_751917.1

      Status: REVIEWED

      Source sequence(s)
      AC025260
      Consensus CDS
      CCDS9045.1
      UniProtKB/Swiss-Prot
      Q6FID1, Q96Q48, Q9P0S1, Q9Y6G3
      UniProtKB/TrEMBL
      J3KPP0
      Related
      ENSP00000447547.1, ENST00000552217.6
      Conserved Domains (1) summary
      pfam10210
      Location:47 → 142
      MRP-S32; Mitochondrial 28S ribosomal protein S32

    RNA

    1. NR_038159.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025260

    2. NR_038160.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025260

    3. NR_038161.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025260

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      93467514..93516214
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      93448482..93497696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172178.2: Suppressed sequence

      Description
      NM_172178.2: This RefSeq was permanently suppressed because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6G3.1 GenPept UniProtKB/Swiss-Prot:Q9Y6G3

    Gene LinkOut

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

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