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 MRPL20 Gene

Aliases for MRPL20 Gene

  • Mitochondrial Ribosomal Protein L20 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein BL20m 3 4
  • 39S Ribosomal Protein L20, Mitochondrial 3 4
  • MRP-L20 3 4
  • L20mt 3 4
  • FLJ10024 2
  • MRPL20 5

External Ids for MRPL20 Gene

Previous GeneCards Identifiers for MRPL20 Gene

  • GC01M000864
  • GC01M001089
  • GC01M001253
  • GC01M001288
  • GC01M001425
  • GC01M001329
  • GC01M000614

Summaries for MRPL20 Gene

Entrez Gene Summary for MRPL20 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 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

GeneCards Summary for MRPL20 Gene

MRPL20 (Mitochondrial Ribosomal Protein L20) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include rRNA binding.

Gene Wiki entry for MRPL20 Gene

Additional gene information for MRPL20 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL20 Gene

Genomics for MRPL20 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL20 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
GH01J001405 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 614.6 +0.2 243 3.6 ARHGAP35 SP1 CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 ZNF512 SIX5 MRPL20 ENSG00000272455 RF00017-003 RN7SL657P lnc-CCNL2-2 lnc-CCNL2-3 INTS11 ATAD3B SLC35E2A CCNL2
GH01J001373 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 +32.2 32170 3.9 ZNF221 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 AURKAIP1 MN308670 lnc-CCNL2-4 lnc-TAS1R3-3 CDK11A ENSG00000230092 ENSG00000269737 ATAD3B ENSG00000237094 LINC01786
GH01J001343 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.6 +54.3 54306 19.2 ARHGAP35 HNRNPL CREB1 GATAD2A CTCF TEAD4 PRDM10 ZNF629 LEF1 SOX13 MXRA8 DVL1 HSALNG0000137 NONHSAG000093.2 ATAD3B SLC35E2A ENSG00000227775 ANKRD65 CCNL2 ENSG00000269737
GH01J001397 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.2 +7.2 7179 5.5 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 PRDM10 ZNF629 TFE3 CCNL2 MRPL20-AS1 lnc-MRPL20-1 INTS11 ATAD3B ENSG00000240731 ENSG00000269737 SLC35E2A ENSG00000227775 ENSG00000230092
GH01J001304 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.9 +100.5 100470 7.6 CEBPG HNRNPL CREB1 ZBTB33 ATF7 PRDM10 ZNF629 TFE3 LEF1 IKZF1 PUSL1 ACAP3 lnc-INTS11-1 ATAD3B INTS11 ENSG00000240731 LINC00115 SLC35E2A CCNL2 LINC01409
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL20 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL20

Top Transcription factor binding sites by QIAGEN in the MRPL20 gene promoter:
  • ATF-2
  • c-Myc
  • CRE-BP1
  • Gfi-1
  • Lmo2
  • Max
  • Max1
  • MyoD
  • NCX
  • Pax-5

Genomic Locations for MRPL20 Gene

Genomic Locations for MRPL20 Gene
chr1:1,401,909-1,407,293
(GRCh38/hg38)
Size:
5,385 bases
Orientation:
Minus strand
chr1:1,337,276-1,342,693
(GRCh37/hg19)
Size:
5,418 bases
Orientation:
Minus strand

Genomic View for MRPL20 Gene

Genes around MRPL20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL20 Gene

Proteins for MRPL20 Gene

  • Protein details for MRPL20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYC9-RM20_HUMAN
    Recommended name:
    39S ribosomal protein L20, mitochondrial
    Protein Accession:
    Q9BYC9
    Secondary Accessions:
    • B2RE41
    • B7Z746

    Protein attributes for MRPL20 Gene

    Size:
    149 amino acids
    Molecular mass:
    17443 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379). 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 (PubMed:25278503, PubMed:25838379). Interacts with OXA1L (By similarity).

    Three dimensional structures from OCA and Proteopedia for MRPL20 Gene

    Alternative splice isoforms for MRPL20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRPL20 Gene

Post-translational modifications for MRPL20 Gene

  • Ubiquitination at Lys82, Lys100, Lys111, and Lys114
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL20 Gene

No data available for DME Specific Peptides for MRPL20 Gene

Domains & Families for MRPL20 Gene

Gene Families for MRPL20 Gene

Protein Domains for MRPL20 Gene

InterPro:
Blocks:
  • Ribosomal protein L20, bacterial and organelle form
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL20 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L20, mitochondrial (RM20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYC9

UniProtKB/Swiss-Prot:

RM20_HUMAN :
  • Belongs to the bacterial ribosomal protein bL20 family.
Family:
  • Belongs to the bacterial ribosomal protein bL20 family.
genes like me logo Genes that share domains with MRPL20: view

Function for MRPL20 Gene

Phenotypes From GWAS Catalog for MRPL20 Gene

Gene Ontology (GO) - Molecular Function for MRPL20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0003735 structural constituent of ribosome IBA 21873635
GO:0005515 protein binding IPI 20601428
GO:0019843 rRNA binding IEA --
genes like me logo Genes that share ontologies with MRPL20: view

Phenotypes for MRPL20 Gene

genes like me logo Genes that share phenotypes with MRPL20: view

Animal Model Products

CRISPR Products

miRNA for MRPL20 Gene

miRTarBase miRNAs that target MRPL20

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL20

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL20 Gene

Localization for MRPL20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL20 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 MRPL20 gene
Compartment Confidence
mitochondrion 5
nucleus 2
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IDA 20601428
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL20: view

Pathways & Interactions for MRPL20 Gene

genes like me logo Genes that share pathways with MRPL20: view

Gene Ontology (GO) - Biological Process for MRPL20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000027 ribosomal large subunit assembly IBA 21873635
GO:0006412 translation IEA --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL20: view

No data available for SIGNOR curated interactions for MRPL20 Gene

Drugs & Compounds for MRPL20 Gene

No Compound Related Data Available

Transcripts for MRPL20 Gene

mRNA/cDNA for MRPL20 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 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 MRPL20

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL20 Gene

No ASD Table

Relevant External Links for MRPL20 Gene

GeneLoc Exon Structure for
MRPL20

Expression for MRPL20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL20 Gene

Protein differential expression in normal tissues from HIPED for MRPL20 Gene

This gene is overexpressed in Breast (24.4), Lung (15.1), and Peripheral blood mononuclear cells (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL20 Gene



Protein tissue co-expression partners for MRPL20 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL20

SOURCE GeneReport for Unigene cluster for MRPL20 Gene:

Hs.182698

Evidence on tissue expression from TISSUES for MRPL20 Gene

  • Bone marrow(4.3)
  • Nervous system(2.2)
  • Thyroid gland(2.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with MRPL20: 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 MRPL20 Gene

Orthologs for MRPL20 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRPL20 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL20 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL20 30 31
  • 85.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPL20 30 31
  • 83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mrpl20 30 17 31
  • 82.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl20 30
  • 81.21 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRPL20 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPL20 30 31
  • 69.8 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPL20 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl20 30
  • 66.67 (n)
Str.20421 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.34799 30
Zebrafish
(Danio rerio)
Actinopterygii mrpl20 30 31
  • 59.51 (n)
OneToOne
wufa27e09 30
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL20 30 31
  • 49.86 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001311 30
  • 49.08 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G16740 30
  • 49.83 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0734100 30
  • 51.82 (n)
Species where no ortholog for MRPL20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MRPL20 Gene

ENSEMBL:
Gene Tree for MRPL20 (if available)
TreeFam:
Gene Tree for MRPL20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL20: view image

Paralogs for MRPL20 Gene

Pseudogenes.org Pseudogenes for MRPL20 Gene

genes like me logo Genes that share paralogs with MRPL20: view

No data available for Paralogs for MRPL20 Gene

Variants for MRPL20 Gene

Additional dbSNP identifiers (rs#s) for MRPL20 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRPL20 Gene

Variant ID Type Subtype PubMed ID
dgv2n67 CNV gain 20364138
esv2758913 CNV gain+loss 17122850
nsv1009541 CNV gain 25217958
nsv1011818 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv482937 CNV loss 15286789
nsv950452 CNV deletion 24416366

Variation tolerance for MRPL20 Gene

Residual Variation Intolerance Score: 36.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.25; 52.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL20 Gene

Disorders for MRPL20 Gene

Additional Disease Information for MRPL20

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 MRPL20 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL20 Gene

Publications for MRPL20 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. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 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 MRPL20 Gene

Sources for MRPL20 Gene