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... See more...

Aliases for MRPL57 Gene

Aliases for MRPL57 Gene

  • Mitochondrial Ribosomal Protein L57 2 3 4 5
  • Mitochondrial Ribosomal Protein 63 2 3 4
  • Mitochondrial Large Ribosomal Subunit Protein ML63 3 4
  • Ribosomal Protein 63, Mitochondrial 3 4
  • HMRP63 3 4
  • MRP63 3 4
  • Mitochondrial Ribosomal Protein BMRP63 3
  • BMRP63 3
  • MRPL57 5

External Ids for MRPL57 Gene

Previous HGNC Symbols for MRPL57 Gene

  • MRP63

Previous GeneCards Identifiers for MRPL57 Gene

  • GC13P021751

Summaries for MRPL57 Gene

Entrez Gene Summary for MRPL57 Gene

  • 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]

GeneCards Summary for MRPL57 Gene

MRPL57 (Mitochondrial Ribosomal Protein L57) is a Protein Coding gene. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL57 Gene

Genomics for MRPL57 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL57 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL57 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL57

Genomic Locations for MRPL57 Gene

Latest Assembly
chr13:21,176,649-21,179,084
(GRCh38/hg38)
Size:
2,436 bases
Orientation:
Plus strand

Previous Assembly
chr13:21,750,797-21,753,223
(GRCh37/hg19 by Entrez Gene)
Size:
2,427 bases
Orientation:
Plus strand

chr13:21,750,784-21,753,223
(GRCh37/hg19 by Ensembl)
Size:
2,440 bases
Orientation:
Plus strand

Genomic View for MRPL57 Gene

Genes around MRPL57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL57 Gene

Proteins for MRPL57 Gene

  • Protein details for MRPL57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQC6-RT63_HUMAN
    Recommended name:
    Ribosomal protein 63, mitochondrial
    Protein Accession:
    Q9BQC6
    Secondary Accessions:
    • A2A332

    Protein attributes for MRPL57 Gene

    Size:
    102 amino acids
    Molecular mass:
    12266 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:25278503, PubMed:25838379, PubMed:28892042). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

    Three dimensional structures from OCA and Proteopedia for MRPL57 Gene

neXtProt entry for MRPL57 Gene

Post-translational modifications for MRPL57 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL57 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL57 Gene

Domains & Families for MRPL57 Gene

Gene Families for MRPL57 Gene

Protein Domains for MRPL57 Gene

Suggested Antigen Peptide Sequences for MRPL57 Gene

GenScript: Design optimal peptide antigens:
  • Ribosomal protein 63, mitochondrial (RT63_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BQC6

UniProtKB/Swiss-Prot:

RT63_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL63 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL63 family.
genes like me logo Genes that share domains with MRPL57: view

Function for MRPL57 Gene

Phenotypes From GWAS Catalog for MRPL57 Gene

Gene Ontology (GO) - Molecular Function for MRPL57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IBA,ISS 11402041
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with MRPL57: view
genes like me logo Genes that share phenotypes with MRPL57: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL57

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL57 Gene

Localization for MRPL57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL57 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRPL57 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IBA,ISS 11402041
GO:0005762 mitochondrial large ribosomal subunit IDA 28892042
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL57: view

Pathways & Interactions for MRPL57 Gene

genes like me logo Genes that share pathways with MRPL57: view

Gene Ontology (GO) - Biological Process for MRPL57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0032543 mitochondrial translation ISS 11402041
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL57: view

No data available for SIGNOR curated interactions for MRPL57 Gene

Drugs & Compounds for MRPL57 Gene

No Compound Related Data Available

Transcripts for MRPL57 Gene

mRNA/cDNA for MRPL57 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL57

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL57 Gene

No ASD Table

Relevant External Links for MRPL57 Gene

GeneLoc Exon Structure for
MRPL57

Expression for MRPL57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL57 Gene

Protein differential expression in normal tissues from HIPED for MRPL57 Gene

This gene is overexpressed in Pancreas (18.0), Peripheral blood mononuclear cells (11.4), and Breast (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL57 Gene



Protein tissue co-expression partners for MRPL57 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL57

Evidence on tissue expression from TISSUES for MRPL57 Gene

  • Nervous system(4.4)
  • Eye(4.2)
genes like me logo Genes that share expression patterns with MRPL57: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL57 Gene

Orthologs for MRPL57 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MRPL57 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRP63 29 30
  • 99.02 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRP63 29
  • 84.16 (n)
-- 30
  • 82 (a)
OneToMany
-- 30
  • 60 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Mrp63 29
  • 82.68 (n)
Mouse
(Mus musculus)
Mammalia Mrp63 29 30
  • 82.35 (n)
OneToOne
Mrpl57 16
Cow
(Bos Taurus)
Mammalia MRP63 29 30
  • 81.37 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MRP63 30
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRP63 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRP63 29
  • 60.78 (n)
Lizard
(Anolis carolinensis)
Reptilia MRP63 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100491945 29
  • 62.75 (n)
Zebrafish
(Danio rerio)
Actinopterygii mrpl57 29
  • 61.06 (n)
mrp63 30
  • 55 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12294 29
Species where no ortholog for MRPL57 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MRPL57 Gene

ENSEMBL:
Gene Tree for MRPL57 (if available)
TreeFam:
Gene Tree for MRPL57 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL57: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL57

Paralogs for MRPL57 Gene

Pseudogenes.org Pseudogenes for MRPL57 Gene

genes like me logo Genes that share paralogs with MRPL57: view

No data available for Paralogs for MRPL57 Gene

Variants for MRPL57 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL57 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MRPL57 Gene

Variant ID Type Subtype PubMed ID
esv3631456 CNV loss 21293372
nsv1037082 CNV gain 25217958
nsv1078303 OTHER inversion 25765185
nsv1115634 CNV deletion 24896259
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv1152114 CNV deletion 26484159

Variation tolerance for MRPL57 Gene

Residual Variation Intolerance Score: 67.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL57 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL57
Leiden Open Variation Database (LOVD)
MRPL57

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL57 Gene

Disorders for MRPL57 Gene

Additional Disease Information for MRPL57

No disorders were found for MRPL57 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL57 Gene

Publications for MRPL57 Gene

  1. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4
  2. Identification and characterization of CHCHD1, AURKAIP1, and CRIF1 as new members of the mammalian mitochondrial ribosome. (PMID: 23908630) Koc EC … Koc H (Frontiers in physiology 2013) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Proteomic analysis of the mammalian mitochondrial ribosome. Identification of protein components in the 28 S small subunit. (PMID: 11402041) Suzuki T … Watanabe K (The Journal of biological chemistry 2001) 3 4
  5. A High-Density Human Mitochondrial Proximity Interaction Network. (PMID: 32877691) Antonicka H … Shoubridge EA (Cell metabolism 2020) 3

Products for MRPL57 Gene

Sources for MRPL57 Gene