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 MRPL53 Gene

Aliases for MRPL53 Gene

  • Mitochondrial Ribosomal Protein L53 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein ML53 3 4
  • 39S Ribosomal Protein L53, Mitochondrial 3 4
  • MRP-L53 4
  • MRPL53 5
  • L53MT 3
  • L53mt 4

External Ids for MRPL53 Gene

Previous GeneCards Identifiers for MRPL53 Gene

  • GC02M074836
  • GC02M074911
  • GC02M074657
  • GC02M074673
  • GC02M074611
  • GC02M074552
  • GC02M074701
  • GC02M074435

Summaries for MRPL53 Gene

Entrez Gene Summary for MRPL53 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 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL53 Gene

MRPL53 (Mitochondrial Ribosomal Protein L53) is a Protein Coding gene. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL53 Gene

Genomics for MRPL53 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL53 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 MRPL53 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL53

Top Transcription factor binding sites by QIAGEN in the MRPL53 gene promoter:
  • Elk-1
  • ER-alpha
  • GCNF
  • GCNF-1
  • GCNF-2
  • Meis-1a
  • MyoD
  • NF-1
  • NF-1/L
  • Olf-1

Genomic Locations for MRPL53 Gene

Latest Assembly
chr2:74,471,982-74,472,687
(GRCh38/hg38)
Size:
706 bases
Orientation:
Minus strand

Previous Assembly
chr2:74,699,109-74,699,807
(GRCh37/hg19 by Entrez Gene)
Size:
699 bases
Orientation:
Minus strand

chr2:74,699,085-74,700,449
(GRCh37/hg19 by Ensembl)
Size:
1,365 bases
Orientation:
Minus strand

Genomic View for MRPL53 Gene

Genes around MRPL53 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL53 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL53 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL53 Gene

Proteins for MRPL53 Gene

  • Protein details for MRPL53 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EL3-RM53_HUMAN
    Recommended name:
    39S ribosomal protein L53, mitochondrial
    Protein Accession:
    Q96EL3

    Protein attributes for MRPL53 Gene

    Size:
    112 amino acids
    Molecular mass:
    12107 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). 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. mL53 is located at the L7/L12 stalk.

    Three dimensional structures from OCA and Proteopedia for MRPL53 Gene

neXtProt entry for MRPL53 Gene

Post-translational modifications for MRPL53 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL53 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL53 Gene

Domains & Families for MRPL53 Gene

Gene Families for MRPL53 Gene

Protein Domains for MRPL53 Gene

Suggested Antigen Peptide Sequences for MRPL53 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L53, mitochondrial (RM53_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96EL3

UniProtKB/Swiss-Prot:

RM53_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL53 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL53 family.
genes like me logo Genes that share domains with MRPL53: view

Function for MRPL53 Gene

Phenotypes From GWAS Catalog for MRPL53 Gene

Gene Ontology (GO) - Molecular Function for MRPL53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MRPL53: view
genes like me logo Genes that share phenotypes with MRPL53: view

miRNA for MRPL53 Gene

miRTarBase miRNAs that target MRPL53

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL53

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL53 Gene

Localization for MRPL53 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL53 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 MRPL53 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IBA,IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL53: view

Pathways & Interactions for MRPL53 Gene

genes like me logo Genes that share pathways with MRPL53: view

Gene Ontology (GO) - Biological Process for MRPL53 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL53: view

No data available for SIGNOR curated interactions for MRPL53 Gene

Drugs & Compounds for MRPL53 Gene

No Compound Related Data Available

Transcripts for MRPL53 Gene

mRNA/cDNA for MRPL53 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 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 MRPL53

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL53 Gene

No ASD Table

Relevant External Links for MRPL53 Gene

GeneLoc Exon Structure for
MRPL53

Expression for MRPL53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL53 Gene

Protein differential expression in normal tissues from HIPED for MRPL53 Gene

This gene is overexpressed in Pancreas (14.1), Liver (8.8), and Peripheral blood mononuclear cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL53 Gene



Protein tissue co-expression partners for MRPL53 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL53

SOURCE GeneReport for Unigene cluster for MRPL53 Gene:

Hs.534527

Evidence on tissue expression from TISSUES for MRPL53 Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with MRPL53: 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 MRPL53 Gene

Orthologs for MRPL53 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MRPL53 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL53 29 30
  • 99.4 (n)
OneToMany
-- 30
  • 98 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia MRPL53 29 30
  • 88.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL53 29
  • 87.2 (n)
Mouse
(Mus musculus)
Mammalia Mrpl53 29 16 30
  • 82.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl53 29
  • 79.51 (n)
Chicken
(Gallus gallus)
Aves MRPL53 29 30
  • 56.94 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl53 29
  • 51.69 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:103761 29
  • 54.81 (n)
MRPL53 (1 of 2) 30
  • 49 (a)
OneToMany
MRPL53 (2 of 2) 30
  • 49 (a)
OneToMany
Species where no ortholog for MRPL53 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 MRPL53 Gene

ENSEMBL:
Gene Tree for MRPL53 (if available)
TreeFam:
Gene Tree for MRPL53 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL53: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL53

Paralogs for MRPL53 Gene

Pseudogenes.org Pseudogenes for MRPL53 Gene

genes like me logo Genes that share paralogs with MRPL53: view

No data available for Paralogs for MRPL53 Gene

Variants for MRPL53 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL53 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1047911 -- p.Ala4Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL53 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 MRPL53 Gene

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850
nsv458185 CNV loss 19166990
nsv515851 CNV loss 19592680
nsv582214 CNV loss 21841781

Variation tolerance for MRPL53 Gene

Residual Variation Intolerance Score: 62.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL53 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL53
Leiden Open Variation Database (LOVD)
MRPL53

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL53 Gene

Disorders for MRPL53 Gene

Additional Disease Information for MRPL53

No disorders were found for MRPL53 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL53 Gene

Publications for MRPL53 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. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4
  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. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PMID: 11551941) Koc EC … Spremulli LL (The Journal of biological chemistry 2001) 2 3
  5. A High-Density Human Mitochondrial Proximity Interaction Network. (PMID: 32877691) Antonicka H … Shoubridge EA (Cell metabolism 2020) 3

Products for MRPL53 Gene

Sources for MRPL53 Gene