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 MRPL50 Gene

Aliases for MRPL50 Gene

  • Mitochondrial Ribosomal Protein L50 2 3 5
  • MRP-L50 2 3 4
  • Mitochondrial Large Ribosomal Subunit Protein ML50 3 4
  • 39S Ribosomal Protein L50, Mitochondrial 3 4
  • Mitochondrial 39S Ribosomal Protein L50 2 3
  • L50mt 3 4
  • FLJ20493 2
  • MRPL50 5

External Ids for MRPL50 Gene

Previous GeneCards Identifiers for MRPL50 Gene

  • GC09M094952
  • GC09M095895
  • GC09M097609
  • GC09M099532
  • GC09M101231
  • GC09M103189
  • GC09M104149
  • GC09M073751

Summaries for MRPL50 Gene

Entrez Gene Summary for MRPL50 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 putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL50 Gene

MRPL50 (Mitochondrial Ribosomal Protein L50) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation.

Additional gene information for MRPL50 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL50 Gene

Genomics for MRPL50 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL50 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
GH09J101397 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.8 -763 4.8 SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 SIX5 IKZF1 ZNF692 ZNF189 MRPL50 ENSG00000230328 RF00017-7777 ALDOB
GH09J101430 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -42.8 -42770 20.9 GATAD2A CTCF ATF7 PRDM10 ZNF629 REST TFE3 ZNF512 SOX13 NFKBIZ ALDOB LOC105376184 ZNF189 PGAP4 RNF20 MRPL50 TMEM246-AS1 BAAT ENSG00000270982 piR-60146-194
GH09J101452 Enhancer 0.7 Ensembl ENCODE dbSUPER 10.8 -55.0 -55043 1.8 ATF2 ZNF644 PGAP4 RNF20 ZNF189 MRPL50 ALDOB ENSG00000270982 RF00017-7778 LOC105376184
GH09J101369 Enhancer 0.4 Ensembl 10.9 +29.0 29017 0.4 FOXJ2 FOSL2 NR3C1 MRPL50 ZNF189 FYTTD1P1 HSALNG0073303 lnc-MRPL50-1 BAAT PLPPR1
GH09J101387 Enhancer 1 Ensembl ENCODE 0.4 +10.5 10480 1.4 GATAD2A CTCF TFE3 NFKBIZ FOXA1 RBFOX2 RXRB REST IRF2 GABPA BAAT ENSG00000230328 MRPL50
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL50 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL50

Top Transcription factor binding sites by QIAGEN in the MRPL50 gene promoter:
  • CP2
  • CREB
  • deltaCREB
  • FOXO1
  • FOXO1a
  • HEN1
  • POU2F1
  • POU2F1a
  • POU3F1
  • POU6F1 (c2)

Genomic Locations for MRPL50 Gene

Genomic Locations for MRPL50 Gene
chr9:101,387,633-101,398,618
(GRCh38/hg38)
Size:
10,986 bases
Orientation:
Minus strand
chr9:104,149,915-104,160,919
(GRCh37/hg19)
Size:
11,005 bases
Orientation:
Minus strand

Genomic View for MRPL50 Gene

Genes around MRPL50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL50 Gene

Proteins for MRPL50 Gene

  • Protein details for MRPL50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5N7-RM50_HUMAN
    Recommended name:
    39S ribosomal protein L50, mitochondrial
    Protein Accession:
    Q8N5N7
    Secondary Accessions:
    • B7Z358
    • Q5T7E0
    • Q9NX15

    Protein attributes for MRPL50 Gene

    Size:
    158 amino acids
    Molecular mass:
    18325 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:25278503, PubMed:25838379, PubMed:28892042). 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.

    Three dimensional structures from OCA and Proteopedia for MRPL50 Gene

    Alternative splice isoforms for MRPL50 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRPL50 Gene

Post-translational modifications for MRPL50 Gene

  • Ubiquitination at Lys34 and Lys139
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL50 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL50 Gene

Domains & Families for MRPL50 Gene

Gene Families for MRPL50 Gene

Protein Domains for MRPL50 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL50 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52265, highly similar to Homo sapiens mitochondrial ribosomal protein L50 (MRPL50), mRNA (B7Z358_HUMAN)
  • 39S ribosomal protein L50, mitochondrial (RM50_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N5N7

UniProtKB/Swiss-Prot:

RM50_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL50 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL50 family.
genes like me logo Genes that share domains with MRPL50: view

Function for MRPL50 Gene

Phenotypes for MRPL50 Gene

genes like me logo Genes that share phenotypes with MRPL50: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL50

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL50 Gene

Localization for MRPL50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL50 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 MRPL50 gene
Compartment Confidence
mitochondrion 5
cytosol 3
endoplasmic reticulum 1
peroxisome 0
nucleus 0

Gene Ontology (GO) - Cellular Components for MRPL50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion 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 MRPL50: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPL50 Gene

Pathways & Interactions for MRPL50 Gene

genes like me logo Genes that share pathways with MRPL50: view

Gene Ontology (GO) - Biological Process for MRPL50 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 MRPL50: view

No data available for SIGNOR curated interactions for MRPL50 Gene

Drugs & Compounds for MRPL50 Gene

No Compound Related Data Available

Transcripts for MRPL50 Gene

mRNA/cDNA for MRPL50 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL50

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL50 Gene

No ASD Table

Relevant External Links for MRPL50 Gene

GeneLoc Exon Structure for
MRPL50

Expression for MRPL50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL50 Gene

Protein differential expression in normal tissues from HIPED for MRPL50 Gene

This gene is overexpressed in Lung (14.9), Peripheral blood mononuclear cells (10.9), Pancreas (9.9), and CD8 Tcells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL50 Gene



Protein tissue co-expression partners for MRPL50 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL50

SOURCE GeneReport for Unigene cluster for MRPL50 Gene:

Hs.288224

Evidence on tissue expression from TISSUES for MRPL50 Gene

  • Nervous system(4.6)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with MRPL50: view

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 MRPL50 Gene

Orthologs for MRPL50 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MRPL50 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL50 30 31
  • 98.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL50 30 31
  • 84.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPL50 30 31
  • 84.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl50 30
  • 79.54 (n)
Mouse
(Mus musculus)
Mammalia Mrpl50 30 17 31
  • 78.9 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MRPL50 31
  • 59 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRPL50 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPL50 30 31
  • 54.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPL50 31
  • 48 (a)
OneToOne
Species where no ortholog for MRPL50 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for MRPL50 Gene

ENSEMBL:
Gene Tree for MRPL50 (if available)
TreeFam:
Gene Tree for MRPL50 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL50: view image

Paralogs for MRPL50 Gene

Pseudogenes.org Pseudogenes for MRPL50 Gene

genes like me logo Genes that share paralogs with MRPL50: view

No data available for Paralogs for MRPL50 Gene

Variants for MRPL50 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL50 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs8131 - p.Leu127Phe

Additional dbSNP identifiers (rs#s) for MRPL50 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRPL50 Gene

Variant ID Type Subtype PubMed ID
nsv475056 CNV novel sequence insertion 20440878
nsv481376 CNV novel sequence insertion 20440878
nsv972437 CNV duplication 23825009

Variation tolerance for MRPL50 Gene

Residual Variation Intolerance Score: 82.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.14; 69.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL50 Gene

Disorders for MRPL50 Gene

Additional Disease Information for MRPL50

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

No disorders were found for MRPL50 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL50 Gene

Publications for MRPL50 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. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MRPL50 Gene

  • Signalway Proteins for MRPL50

Sources for MRPL50 Gene