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Aliases for MRPL52 Gene

Aliases for MRPL52 Gene

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

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 Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Additional gene information for MRPL52 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL52 Gene

Genomics for MRPL52 Gene

GeneHancer (GH) Regulatory Elements for MRPL52 Gene

Promoters and enhancers for MRPL52 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I022829 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 564.3 +0.3 289 1.8 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 MRPL52 SLC7A7 AP1G2 MMP14
GH14I022817 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.2 -8.3 -8269 7.8 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF213 SLC7A7 MRPL52 CDH24 PABPN1 RBM23 C14orf119 ENSG00000258458
GH14I022835 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.9 +8.0 7959 5.4 ARID4B SIN3A YBX1 PLRG1 DMAP1 ZNF48 RAD21 YY1 RUNX3 PAF1 MMP14 NGDN ACIN1 MRPL52 LOC102724814 PRMT5 EFS RBM23 HAUS4 C14orf93
GH14I022504 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -291.7 -291663 66.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 SSRP1 GC14P024183 GC14P024201 TRAJ6 TRAJ7 ABHD4 DAD1 C14orf93 MMP14 LOC105370399 TRAC
GH14I022472 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -341.3 -341303 32 HDGF PKNOX1 SMAD1 YBX1 IRF4 TCF12 ZNF207 ZNF143 ATF7 RUNX3 GC14P024192 GC14P024203 TRAJ48 TRAJ49 TRAJ50 TRAJ51 PRMT5-AS1 ABHD4 MMP14 MRPL52
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MRPL52 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRPL52 gene promoter:

Genomic Locations for MRPL52 Gene

Genomic Locations for MRPL52 Gene
chr14:22,829,851-22,835,037
(GRCh38/hg38)
Size:
5,187 bases
Orientation:
Plus strand
chr14:23,299,088-23,304,246
(GRCh37/hg19)

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). 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=Translation N-terminally shortened.; 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

No Post-translational modifications

No data available for DME Specific Peptides for MRPL52 Gene

Domains & Families for MRPL52 Gene

Gene Families for MRPL52 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins
  • Ribosomal proteins

Protein Domains for MRPL52 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL52 Gene

GenScript: Design optimal peptide antigens:

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

Clone Products

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 2
plasma membrane 1
extracellular 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit ISS --
GO:0005840 ribosome IEA --
GO:0030529 intracellular ribonucleoprotein complex 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 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

Unigene Clusters for MRPL52 Gene

Mitochondrial ribosomal protein L52:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
MRPL52

Expression for MRPL52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MRPL52 Gene



NURSA nuclear receptor signaling pathways regulating expression of MRPL52 Gene:

MRPL52

SOURCE GeneReport for Unigene cluster for MRPL52 Gene:

Hs.355935

Evidence on tissue expression from TISSUES for MRPL52 Gene

  • Nervous system(4.4)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with MRPL52: view

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 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia MRPL52 33 34
  • 89.62 (n)
mouse
(Mus musculus)
Mammalia Mrpl52 33 16 34
  • 86.78 (n)
cow
(Bos Taurus)
Mammalia MRPL52 33 34
  • 86.34 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl52 33
  • 84.57 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL52 34
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL52 34
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl52 33
  • 54.13 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100007768 33
  • 52.65 (n)
MRPL52 34
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mRpL52 34
  • 32 (a)
OneToOne
Species where no ortholog for MRPL52 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for MRPL52 Gene

No data available for Paralogs for MRPL52 Gene

Variants for MRPL52 Gene

Sequence variations from dbSNP and Humsavar for MRPL52 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1001458828 -- 22,835,029(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1001496993 -- 22,828,876(+) G/T upstream_transcript_variant
rs1001525876 -- 22,829,490(+) C/T upstream_transcript_variant
rs1001614349 -- 22,835,451(+) TTCTTCT/TTCT downstream_transcript_variant
rs1001864427 -- 22,831,069(+) T/C intron_variant

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

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

Disorders for MRPL52 Gene

Additional Disease Information for MRPL52

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 58
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. 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 58
  5. Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease. (PMID: 11943462) O'Brien TW (Gene 2002) 2 3 58

Products for MRPL52 Gene

Sources for MRPL52 Gene

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