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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
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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

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