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

    Gene ID: 57129, updated on 28-Oct-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: ACTL6A

    Clone Names

    • MGC45403

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    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 

    General protein information

    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)

    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.

    mRNA and Protein(s)

    1. NM_020409.3NP_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:64149
      MRP-L47; Mitochondrial 39-S ribosomal protein L47 (MRP-L47)
    2. NM_177988.1NP_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:139
      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)