Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MRPL53 Gene

Aliases for MRPL53 Gene

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

Additional gene information for MRPL53 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 MRPL53 Gene

Genomics for MRPL53 Gene

Regulatory Elements for MRPL53 Gene

Enhancers for MRPL53 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H074119 1.1 ENCODE 19 +353.0 352960 1 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 FNBP1P1 LOC107985899 PCGF1 CCDC142 WBP1 MRPL53 DUSP11 ENSG00000273245 TTC31 MTHFD2
GH02H074570 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -99.5 -99506 4 HDAC1 HDGF PKNOX1 FOXA2 ARID4B BMI1 ZBTB40 BATF RAD21 RARA DOK1 LBX2-AS1 AUP1 HTRA2 PCGF1 LBX2 TLX2 DQX1 MRPL53 MOGS
GH02H074566 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -94.5 -94506 3 HLF CEBPB EBF1 EP300 JUND POLR2A GLIS1 IKZF1 SCRT2 FOS LBX2 WBP1 HTRA2 AUP1 TLX2 PCGF1 MRPL53 MOGS DQX1 RTKN
GH02H074551 1.3 ENCODE dbSUPER 10.7 -80.4 -80400 5 HDGF PKNOX1 SIN3A DMAP1 YBX1 ZNF766 ZNF143 ZNF207 SP3 SP5 ACTG2 LBX2-AS1 AUP1 HTRA2 TLX2 PCGF1 DQX1 MRPL53 WBP1 MOGS
GH02H074587 1.1 Ensembl ENCODE 11.9 -114.5 -114479 0 HDGF RB1 TBL1XR1 ARID4B ZNF2 RAD21 ZNF143 ATF7 RUNX3 THAP11 LBX2 DOK1 MRPL53 AUP1 HTRA2 PCGF1 DQX1 LOXL3 TTC31 CCDC142
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRPL53 on UCSC Golden Path with GeneCards custom track

Promoters for MRPL53 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000119168 822 1401 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for MRPL53 Gene

Chromosome:
2
Start:
74,471,958 bp from pter
End:
74,473,322 bp from pter
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). 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

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

Protein Domains for MRPL53 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL53 Gene

GenScript: Design optimal peptide antigens:

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

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

Animal Model Products

CRISPR Products

miRNA for MRPL53 Gene

miRTarBase miRNAs that target MRPL53

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MRPL53
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 3
cytosol 1

Gene Ontology (GO) - Cellular Components for MRPL53 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 IDA 25278503
GO:0005840 ribosome IEA --
GO:0030529 intracellular ribonucleoprotein complex IEA --
genes like me logo Genes that share ontologies with MRPL53: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPL53 Gene

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

Unigene Clusters for MRPL53 Gene

Mitochondrial ribosomal protein L53:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MRPL53
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for MRPL53 Gene

GeneLoc Exon Structure for
MRPL53
ECgene alternative splicing isoforms for
MRPL53

Expression for MRPL53 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MRPL53 Gene



Protein tissue co-expression partners for MRPL53 Gene

NURSA nuclear receptor signaling pathways regulating expression of MRPL53 Gene:

MRPL53

SOURCE GeneReport for Unigene cluster for MRPL53 Gene:

Hs.534527

Evidence on tissue expression from TISSUES for MRPL53 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with MRPL53: view

Primer Products

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 33 34
  • 99.4 (n)
-- 34
  • 98 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MRPL53 33 34
  • 88.1 (n)
dog
(Canis familiaris)
Mammalia MRPL53 33
  • 87.2 (n)
mouse
(Mus musculus)
Mammalia Mrpl53 16 34 33
  • 82.41 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl53 33
  • 79.51 (n)
chicken
(Gallus gallus)
Aves MRPL53 34 33
  • 56.94 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl53 33
  • 51.69 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536741 33
  • 54.81 (n)
MRPL53 (2 of 2) 34
  • 49 (a)
OneToMany
MRPL53 (1 of 2) 34
  • 49 (a)
OneToMany
Species where no ortholog for MRPL53 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)
  • 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 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 MRPL53 Gene

ENSEMBL:
Gene Tree for MRPL53 (if available)
TreeFam:
Gene Tree for MRPL53 (if available)

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 from dbSNP and Humsavar for MRPL53 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000866090 -- 74,474,445(+) TCCAA(A/G)CTTCC upstream-variant-2KB, utr-variant-3-prime
rs1000870266 -- 74,472,763(+) GGCTG(C/G)TTAGC downstream-variant-500B, utr-variant-5-prime
rs1002032833 -- 74,472,963(+) ATACG(C/T)CCGTT upstream-variant-2KB, utr-variant-3-prime
rs1002085195 -- 74,472,777(+) CCTGC(C/G)AACCG downstream-variant-500B, utr-variant-5-prime
rs1002107829 -- 74,472,086(+) TCCAC(A/G)CTAAA utr-variant-3-prime

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)

Relevant External Links for MRPL53 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL53

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

Disorders for MRPL53 Gene

Relevant External Links for MRPL53

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 60
  2. 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 60
  3. 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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 60

Products for MRPL53 Gene

Sources for MRPL53 Gene

Content
Loading form....