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
  • 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.

No data available for 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
GH02F074570 1.5 FANTOM5 Ensembl ENCODE 10.9 -101.5 -101479 8.8 HDGF PKNOX1 ARID4B SIN3A BMI1 RAD21 ZBTB40 RARA CHAMP1 YY1 MOGS DOK1 LBX2-AS1 AUP1 HTRA2 TLX2 PCGF1 CCDC142 TTC31 DQX1
GH02F074566 1.3 FANTOM5 Ensembl ENCODE 10.5 -94.4 -94357 3.4 ZFP64 EBF1 CBX5 SCRT2 FOS NFE2L2 MTA2 HLF CEBPB ZNF781 SEMA4F LBX2 BOLA3-AS1 WBP1 HTRA2 AUP1 TLX2 PCGF1 MRPL53 MOGS
GH02F074587 1.1 Ensembl ENCODE 11.9 -114.4 -114397 0.6 TBL1XR1 WRNIP1 ARID4B ZNF2 RAD21 ZNF143 THAP11 ZNF654 CEBPB MIER2 LBX2 DOK1 MRPL53 LOXL3 AUP1 HTRA2 PCGF1 CCDC142 TTC31 DQX1
GH02F074513 1.2 Ensembl ENCODE 10.7 -41.9 -41911 3.0 PKNOX1 ATF1 MLX ARID4B SIN3A FOS DEK NFYC ZHX2 REST LBX2 WBP1 PCGF1 ALMS1P1 MRPL53 CCDC142 C2orf81 TLX2 DQX1
GH02F074551 1.1 ENCODE 10.7 -80.4 -80400 5.6 HDGF PKNOX1 WRNIP1 ZFP64 SIN3A ARID4B YBX1 DMAP1 ZNF143 ZNF207 LBX2-AS1 AUP1 HTRA2 TLX2 PCGF1 DQX1 MRPL53 WBP1 MOGS M1AP
- 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
ENSR00000302126 822 1801 HDGF PKNOX1 CREB3L1 WRNIP1 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 ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins.

    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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL53 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MRPL53 Gene

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

miRNA for MRPL53 Gene

miRTarBase miRNAs that target MRPL53

Inhibitory RNA Products

Flow Cytometry Products

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 3
cytosol 1

Gene Ontology (GO) - Cellular Components for MRPL53 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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

Transcripts for MRPL53 Gene

mRNA/cDNA for MRPL53 Gene

Unigene Clusters for MRPL53 Gene

Mitochondrial ribosomal protein L53:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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
genes like me logo Genes that share expression patterns with MRPL53: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.4 (n)
-- 35
  • 98 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MRPL53 34 35
  • 88.1 (n)
dog
(Canis familiaris)
Mammalia MRPL53 34
  • 87.2 (n)
mouse
(Mus musculus)
Mammalia Mrpl53 34 16 35
  • 82.41 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl53 34
  • 79.51 (n)
chicken
(Gallus gallus)
Aves MRPL53 35 34
  • 56.94 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl53 34
  • 51.69 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:103761 34
  • 54.81 (n)
MRPL53 (1 of 2) 35
  • 49 (a)
OneToMany
MRPL53 (2 of 2) 35
  • 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
rs10204697 -- 74,471,976(+) TTCCA(A/G)AAACA utr-variant-3-prime
rs10211358 -- 74,474,169(+) agctc(C/T)gcctc upstream-variant-2KB, utr-variant-3-prime
rs1047911 -- 74,472,651(-) CAGCT(G/T)CCTTG downstream-variant-500B, reference, missense
rs111410167 -- 74,472,636(+) CAGAC(A/C/G)AAGCC downstream-variant-500B, reference, missense
rs112896280 -- 74,471,939(+) TTCAG(C/G)TTCAT downstream-variant-500B

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 2014) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PMID: 11551941) Koc E.C. … Spremulli L.L. (J. Biol. Chem. 2001) 2 3 64
  4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for MRPL53 Gene

Sources for MRPL53 Gene

Content
Loading form....