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    MRPL57 mitochondrial ribosomal protein L57 [ Homo sapiens (human) ]

    Gene ID: 78988, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MRPL57provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L57provided by HGNC
    Primary source
    HGNC:HGNC:14514
    See related
    Ensembl:ENSG00000173141 MIM:611997; AllianceGenome:HGNC:14514
    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
    mL63; MRP63; bMRP63
    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 which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 7.1), prostate (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    13q12.11
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (21176658..21179084)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (20369738..20372165)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (21750797..21753223)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7432 Neighboring gene Sin3A associated protein 18 Neighboring gene spindle and kinetochore associated complex subunit 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21748764-21749486 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21750209-21750931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7433 Neighboring gene OCT4 hESC enhancer GRCh37_chr13:21780309-21780832 Neighboring gene long intergenic non-protein coding RNA 1046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:21822225-21822726 Neighboring gene uncharacterized LOC105370105 Neighboring gene estrogen-related receptor alpha pseudogene 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. A common set of gene regulatory networks links metabolism and growth inhibition. Cam H, et al. Mol Cell, 2004 Nov 5. PMID 15525513
    2. Identification and characterization of CHCHD1, AURKAIP1, and CRIF1 as new members of the mammalian mitochondrial ribosome. Koc EC, et al. Front Physiol, 2013. PMID 23908630, Free PMC Article
    3. 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
    4. Proteomic analysis of the mammalian mitochondrial ribosome. Identification of protein components in the 28 S small subunit. Suzuki T, et al. J Biol Chem, 2001 Aug 31. PMID 11402041
    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 (31) 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)

    Genotypes

    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

    • MGC3243

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial large ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in mitochondrial ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial ribosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 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 mL63
    Names
    hMRP63
    mitochondrial large ribosomal subunit protein mL63
    mitochondrial ribosomal protein 63
    mitochondrial ribosomal protein bMRP63
    ribosomal protein 63, 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_024026.5 → NP_076931.1  large ribosomal subunit protein mL63

      See identical proteins and their annotated locations for NP_076931.1

      Status: REVIEWED

      Source sequence(s)
      AL158032
      Consensus CDS
      CCDS9296.1
      UniProtKB/Swiss-Prot
      A2A332, Q9BQC6
      Related
      ENSP00000310726.4, ENST00000309594.5
      Conserved Domains (1) summary
      pfam14978
      Location:14 → 101
      MRP-63; Mitochondrial ribosome protein 63

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      21176658..21179084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020740.3 → XP_016876229.1  large ribosomal subunit protein mL63 isoform X1

      UniProtKB/Swiss-Prot
      A2A332, Q9BQC6
      Conserved Domains (1) summary
      pfam14978
      Location:14 → 101
      MRP-63; Mitochondrial ribosome protein 63

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      20369738..20372165
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374948.1 → XP_054230923.1  large ribosomal subunit protein mL63 isoform X1

      UniProtKB/Swiss-Prot
      A2A332, Q9BQC6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQC6.1 GenPept UniProtKB/Swiss-Prot:Q9BQC6

    Gene LinkOut

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

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