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    MRPL50 mitochondrial ribosomal protein L50 [ Homo sapiens (human) ]

    Gene ID: 54534, updated on 2-Nov-2024

    Summary

    Official Symbol
    MRPL50provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L50provided by HGNC
    Primary source
    HGNC:HGNC:16654
    See related
    Ensembl:ENSG00000136897 MIM:611854; AllianceGenome:HGNC:16654
    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
    mL50; MRP-L50
    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 putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 22.5), kidney (RPKM 15.0) and 25 other tissues See more
    Orthologs
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    Genomic context

    See MRPL50 in Genome Data Viewer
    Location:
    9q31.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (101387633..101398618, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (113559613..113570593, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (104149915..104160900, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 10 pseudogene Neighboring gene bile acid-CoA:amino acid N-acyltransferase Neighboring gene forty-two-three domain containing 1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:104160013-104160542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:104160543-104161071 Neighboring gene zinc finger protein 189 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:104169926-104171125 Neighboring gene aldolase, fructose-bisphosphate B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28725

    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

    Bibliography

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ20493, FLJ21990

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol  
    located_in mitochondrial inner membrane PubMed 
    located_in mitochondrial inner membrane  
    part_of mitochondrial large ribosomal subunit  
    part_of mitochondrial large ribosomal subunit PubMed 
    part_of mitochondrial large ribosomal subunit PubMed 
    located_in mitochondrion PubMed 
    located_in mitochondrion PubMed 

    General protein information

    Preferred Names
    large ribosomal subunit protein mL50
    Names
    39S ribosomal protein L50, mitochondrial
    L50mt
    mitochondrial 39S ribosomal protein L50
    mitochondrial large ribosomal subunit protein mL50

    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_019051.3NP_061924.1  large ribosomal subunit protein mL50

      See identical proteins and their annotated locations for NP_061924.1

      Status: REVIEWED

      Source sequence(s)
      AK000500, AL353621, BC032008, CN388719
      Consensus CDS
      CCDS6753.1
      UniProtKB/Swiss-Prot
      B7Z358, Q5T7E0, Q8N5N7, Q9NX15
      Related
      ENSP00000363999.4, ENST00000374865.5
      Conserved Domains (1) summary
      pfam10501
      Location:60154
      Ribosomal_L50; Ribosomal subunit 39S

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      101387633..101398618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      113559613..113570593 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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