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Aliases for MRPL50 Gene

Aliases for MRPL50 Gene

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

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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL50 Gene

Genomics for MRPL50 Gene

GeneHancer (GH) Regulatory Elements for MRPL50 Gene

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
GH09I101397 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.9 -940 4.4 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF189 MRPL50 LOC100421197 GC09P101420
GH09I101430 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 11.2 -42.7 -42747 20.9 PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ALDOB LOC105376184 ZNF189 RNF20 TMEM246 MRPL50 TMEM246-AS1 BAAT
GH09I101452 Enhancer 0.5 ENCODE dbSUPER 10.8 -55.0 -55020 1.8 ATF2 TMEM246 RNF20 ZNF189 MRPL50 ALDOB LOC105376184 TMEM246-AS1
GH09I101418 Enhancer 0.4 dbSUPER 11.2 -20.7 -20683 0.9 ZNF766 MAX YY1 GC09P101420 ZNF189 MRPL50 ALDOB
GH09I101387 Enhancer 0.8 ENCODE 0.4 +10.7 10652 1.1 ELF3 FOXA2 ARID4B DMAP1 RAD21 RARA ZNF143 THAP11 MIXL1 PAF1 BAAT MRPL50
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MRPL50 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRPL50 gene promoter:

Genomic Locations for MRPL50 Gene

Genomic Locations for MRPL50 Gene
chr9:101,387,633-101,398,641
(GRCh38/hg38)
Size:
11,009 bases
Orientation:
Minus strand
chr9:104,149,915-104,160,919
(GRCh37/hg19)

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). 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

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

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

Protein Domains for MRPL50 Gene

InterPro:
ProtoNet:

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

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

Clone Products

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
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPL50 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 MRPL50: view

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 :
(3) Additional mRNA sequences :
(202) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MRPL50 Gene

Mitochondrial ribosomal protein L50:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for MRPL50 Gene

GeneLoc Exon Structure for
MRPL50
ECgene alternative splicing isoforms for
MRPL50

Expression for MRPL50 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MRPL50 Gene



Protein tissue co-expression partners for MRPL50 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL50 Gene:

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(4.2)
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 33 34
  • 98.73 (n)
cow
(Bos Taurus)
Mammalia MRPL50 33 34
  • 84.18 (n)
dog
(Canis familiaris)
Mammalia MRPL50 33 34
  • 84.18 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl50 33
  • 79.54 (n)
mouse
(Mus musculus)
Mammalia Mrpl50 33 16 34
  • 78.9 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL50 34
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL50 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL50 33 34
  • 54.99 (n)
lizard
(Anolis carolinensis)
Reptilia MRPL50 34
  • 48 (a)
OneToOne
Species where no ortholog for MRPL50 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)
  • 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 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)
  • 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)

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 from dbSNP and Humsavar for MRPL50 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000028563 -- 101,397,664(-) T/A intron_variant
rs1000135054 -- 101,392,178(-) G/C intron_variant
rs1000159952 -- 101,393,290(-) C/G intron_variant
rs1000289701 -- 101,397,402(-) T/C intron_variant
rs1000373237 -- 101,390,418(-) T/A 3_prime_UTR_variant

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

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. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  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 58

Products for MRPL50 Gene

Sources for MRPL50 Gene

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