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 MRPL52 Gene

Aliases for MRPL52 Gene

  • Mitochondrial Ribosomal Protein L52 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein ML52 3 4
  • 39S Ribosomal Protein L52, Mitochondrial 3 4
  • MRP-L52 3 4
  • L52mt 3 4
  • MRPL52 5

External Ids for MRPL52 Gene

Previous GeneCards Identifiers for MRPL52 Gene

  • GC00U991113
  • GC14P021289
  • GC14P022368
  • GC14P023299
  • GC14P003416

Summaries for MRPL52 Gene

Entrez Gene Summary for MRPL52 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 which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL52 Gene

MRPL52 (Mitochondrial Ribosomal Protein L52) 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 MRPL52 Gene

Genomics for MRPL52 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL52 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 MRPL52 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL52

Top Transcription factor binding sites by QIAGEN in the MRPL52 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • ATF-2
  • c-Jun
  • E2F
  • E2F-1
  • E47

Genomic Locations for MRPL52 Gene

Latest Assembly
chr14:22,829,862-22,835,037
(GRCh38/hg38)
Size:
5,176 bases
Orientation:
Plus strand

Previous Assembly
chr14:23,299,096-23,304,246
(GRCh37/hg19 by Entrez Gene)
Size:
5,151 bases
Orientation:
Plus strand

chr14:23,299,088-23,304,246
(GRCh37/hg19 by Ensembl)
Size:
5,159 bases
Orientation:
Plus strand

Genomic View for MRPL52 Gene

Genes around MRPL52 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL52 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL52 Gene

Proteins for MRPL52 Gene

  • Protein details for MRPL52 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86TS9-RM52_HUMAN
    Recommended name:
    39S ribosomal protein L52, mitochondrial
    Protein Accession:
    Q86TS9
    Secondary Accessions:
    • A6NMQ8
    • A8MXK5
    • A8MYI6
    • G3XCN9
    • Q6NVH8

    Protein attributes for MRPL52 Gene

    Size:
    123 amino acids
    Molecular mass:
    13664 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, 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. mL52 connects the central protuberance to the body of the ribosome.
    SequenceCaution:
    • Sequence=CAD66556.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL52 Gene

    Alternative splice isoforms for MRPL52 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRPL52 Gene

Post-translational modifications for MRPL52 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MRPL52 Gene

Domains & Families for MRPL52 Gene

Gene Families for MRPL52 Gene

Protein Domains for MRPL52 Gene

InterPro:

Suggested Antigen Peptide Sequences for MRPL52 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L52, mitochondrial (RM52_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86TS9

UniProtKB/Swiss-Prot:

RM52_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL52 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL52 family.
genes like me logo Genes that share domains with MRPL52: view

Function for MRPL52 Gene

Phenotypes From GWAS Catalog for MRPL52 Gene

Gene Ontology (GO) - Molecular Function for MRPL52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome ISS --
genes like me logo Genes that share ontologies with MRPL52: view
genes like me logo Genes that share phenotypes with MRPL52: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL52

Clone products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL52 Gene

Localization for MRPL52 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL52 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 MRPL52 gene
Compartment Confidence
mitochondrion 5
nucleus 4
extracellular 1
cytosol 1
plasma membrane 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPL52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IBA,ISS --
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL52: view

Pathways & Interactions for MRPL52 Gene

genes like me logo Genes that share pathways with MRPL52: view

Gene Ontology (GO) - Biological Process for MRPL52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IBA,ISS --
GO:0032543 mitochondrial translation IEA --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL52: view

No data available for SIGNOR curated interactions for MRPL52 Gene

Drugs & Compounds for MRPL52 Gene

No Compound Related Data Available

Transcripts for MRPL52 Gene

mRNA/cDNA for MRPL52 Gene

7 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
17 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 MRPL52

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL52 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - - - -
SP7: - - - - -
SP8: - - -
SP9:
SP10: -
SP11: - - - - - -
SP12:

Relevant External Links for MRPL52 Gene

GeneLoc Exon Structure for
MRPL52

Expression for MRPL52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL52 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MRPL52 Gene

This gene is overexpressed in Heart (43.0) and Lung (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL52 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL52

SOURCE GeneReport for Unigene cluster for MRPL52 Gene:

Hs.355935

Evidence on tissue expression from TISSUES for MRPL52 Gene

  • Nervous system(4.5)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with MRPL52: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL52 Gene

Orthologs for MRPL52 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL52 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL52 29 30
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL52 29 30
  • 89.62 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mrpl52 29 16 30
  • 86.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPL52 29 30
  • 86.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl52 29
  • 84.57 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRPL52 30
  • 69 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPL52 30
  • 43 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl52 29
  • 54.13 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100007768 29
  • 52.65 (n)
MRPL52 30
  • 44 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL52 30
  • 32 (a)
OneToOne
Species where no ortholog for MRPL52 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)
  • Chicken (Gallus gallus)
  • 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)
  • 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)
  • 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 MRPL52 Gene

ENSEMBL:
Gene Tree for MRPL52 (if available)
TreeFam:
Gene Tree for MRPL52 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL52: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL52

Paralogs for MRPL52 Gene

No data available for Paralogs for MRPL52 Gene

Variants for MRPL52 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL52 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs1135641 -- p.Gly5Val
rs11538931 -- p.Lys104Arg
rs4982685 -- p.Val19Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL52 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 MRPL52 Gene

Variant ID Type Subtype PubMed ID
esv3633763 CNV gain 21293372
nsv563998 CNV gain 21841781

Variation tolerance for MRPL52 Gene

Residual Variation Intolerance Score: 73.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL52 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL52
Leiden Open Variation Database (LOVD)
MRPL52

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL52 Gene

Disorders for MRPL52 Gene

Additional Disease Information for MRPL52

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for MRPL52 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL52 Gene

Publications for MRPL52 Gene

  1. 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 4
  2. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4
  3. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  5. 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

Products for MRPL52 Gene

Sources for MRPL52 Gene