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    MRPL47 mitochondrial ribosomal protein L47 [ Homo sapiens (human) ]

    Gene ID: 57129, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MRPL47provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L47provided by HGNC
    Primary source
    HGNC:HGNC:16652
    See related
    Ensembl:ENSG00000136522 MIM:611852; AllianceGenome:HGNC:16652
    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
    NCM1; L47mt; uL29m; CGI-204; MRP-L47
    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. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 23.3), heart (RPKM 16.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL47 in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (179588285..179604646, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (182392124..182408486, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179306073..179322434, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene G protein subunit beta 4 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:179244611-179245161 Neighboring gene Sharpr-MPRA regulatory region 7561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14921 Neighboring gene uncharacterized LOC124909462 Neighboring gene actin like 6A Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179321716-179322582 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179322583-179323449 Neighboring gene small nucleolar RNA U13 Neighboring gene NADH:ubiquinone oxidoreductase subunit B5 Neighboring gene H3 histone pseudogene 13

    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. Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease. O'Brien TW. Gene, 2002 Mar 6. PMID 11943462
    2. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article
    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. Transcription-coupled nucleotide excision repair is coordinated by ubiquitin and SUMO in response to ultraviolet irradiation. Liebelt F, et al. Nucleic Acids Res, 2020 Jan 10. PMID 31722399, Free PMC Article
    5. Structures of the human mitochondrial ribosome in native states of assembly. Brown A, et al. Nat Struct Mol Biol, 2017 Oct. PMID 28892042, Free PMC Article

    See all (66) 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.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Potential readthrough

    Included gene: ACTL6A

    Homology

    Clone Names

    • MGC45403

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 
    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 
    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 uL29m
    Names
    39S ribosomal protein L47, mitochondrial
    mitochondrial large ribosomal subunit protein uL29m
    nasopharyngeal carcinoma metastasis-related 1
    nasopharyngeal carcinoma metastasis-related protein 1

    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_020409.3 → NP_065142.2  large ribosomal subunit protein uL29m isoform a

      See identical proteins and their annotated locations for NP_065142.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript and it encodes isoform a.
      Source sequence(s)
      AC090425, AY212270, BC021575, BC032522
      Consensus CDS
      CCDS3232.1
      UniProtKB/Swiss-Prot
      Q6XRG1, Q8N5D1, Q9HD33
      Related
      ENSP00000417602.1, ENST00000476781.6
      Conserved Domains (1) summary
      pfam06984
      Location:64 → 149
      MRP-L47; Mitochondrial 39-S ribosomal protein L47 (MRP-L47)

    2. NM_177988.1 → NP_817125.1  large ribosomal subunit protein uL29m isoform b

      See identical proteins and their annotated locations for NP_817125.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment, compared to variant 1, which leads to the use of a downstream start codon. The predicted protein (isoform b) is shorter than isoform a. The predicted ORF of this transcript has not been experimentally confirmed.
      Source sequence(s)
      BC021575, BC032522
      Consensus CDS
      CCDS3233.1
      UniProtKB/Swiss-Prot
      Q9HD33
      Related
      ENSP00000376427.2, ENST00000392659.2
      Conserved Domains (1) summary
      cl09943
      Location:1 → 39
      Ribosomal_L29_HIP; Ribosomal L29 protein/HIP. L29 is a protein of the large ribosomal Subunit. A homolog, called heparin/heparan sulfate interacting protein (HIP), has also been identified in mammals. L29 is located on the surface of the large ribosomal subunit, where it ...

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      179588285..179604646 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      182392124..182408486 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HD33.2 GenPept UniProtKB/Swiss-Prot:Q9HD33

    Gene LinkOut

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