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 MRPL16 Gene

Aliases for MRPL16 Gene

  • Mitochondrial Ribosomal Protein L16 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL16m 3 4
  • 39S Ribosomal Protein L16, Mitochondrial 3 4
  • PNAS-111 2 3
  • MRP-L16 3 4
  • L16mt 3 4
  • FLJ20484 2
  • MRPL16 5

External Ids for MRPL16 Gene

Previous GeneCards Identifiers for MRPL16 Gene

  • GC11M061967
  • GC11M061086
  • GC11M059824
  • GC11M059348
  • GC11M059330
  • GC11M059573
  • GC11M055920
  • GC11M059810
  • GC11M059965
  • GC11M061281
  • GC11M063751

Summaries for MRPL16 Gene

Entrez Gene Summary for MRPL16 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL16 Gene

MRPL16 (Mitochondrial Ribosomal Protein L16) is a Protein Coding gene. Diseases associated with MRPL16 include Megalencephalic Leukoencephalopathy With Subcortical Cysts 1. Among its related pathways are Mitochondrial translation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome and rRNA binding.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL16 Gene

Genomics for MRPL16 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL16 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
GH11J059809 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 256.2 +0.2 249 2.3 BCLAF1 SP1 ZNF207 MYC SIX5 ZNF580 KLF9 POLR2A CEBPA ATF3 MRPL16 lnc-GIF-1-001 lnc-GIF-1-002 ENSG00000255139 PATL1 FAM111A STX3 OR10V1
GH11J059808 Enhancer 0.2 Ensembl 250.7 +1.9 1877 0.2 MRPL16 lnc-GIF-1-001 lnc-GIF-1-002 CBLIF NONHSAG008414.2 OR10V1
GH11J059785 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 5.5 +23.7 23711 3.8 NCOR1 ZNF600 JUND ATF3 NFIC FOXA1 HES1 EP300 MBD2 FOXA2 STX3 MRPL16 FABP5P7 lnc-MRPL16-1 OR10V1
GH11J059774 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.5 +33.1 33101 5.6 SSRP1 JUND CEBPA NFIC CEBPB BHLHE40 ZNF639 HOMEZ MAX ZNF217 STX3 PATL1 ENSG00000255139 MRPL16 OR4D6 piR-60643-001 lnc-MRPL16-2 OR10V1
GH11J059813 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 6.2 -4.5 -4455 3.4 NCOR1 TAL1 PRDM10 FOXM1 HDAC2 ZEB2 TCF12 MTA2 TEAD4 MEIS2 HSALNG0084431 STX3 MRPL16 CBLIF
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL16 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL16

Top Transcription factor binding sites by QIAGEN in the MRPL16 gene promoter:
  • AML1a
  • FOXO1
  • FOXO1a
  • NF-E2
  • NF-E2 p45
  • Pax-4a
  • Roaz
  • TGIF
  • Zic3

Genomic Locations for MRPL16 Gene

Latest Assembly
chr11:59,806,140-59,810,778
(GRCh38/hg38)
Size:
4,639 bases
Orientation:
Minus strand

Previous Assembly
chr11:59,573,613-59,578,251
(GRCh37/hg19 by Entrez Gene)
Size:
4,639 bases
Orientation:
Minus strand

chr11:59,573,608-59,578,345
(GRCh37/hg19 by Ensembl)
Size:
4,738 bases
Orientation:
Minus strand

Genomic View for MRPL16 Gene

Genes around MRPL16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL16 Gene

Proteins for MRPL16 Gene

  • Protein details for MRPL16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX20-RM16_HUMAN
    Recommended name:
    39S ribosomal protein L16, mitochondrial
    Protein Accession:
    Q9NX20
    Secondary Accessions:
    • Q9BYD0
    • Q9HB70

    Protein attributes for MRPL16 Gene

    Size:
    251 amino acids
    Molecular mass:
    28449 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). 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.
    SequenceCaution:
    • Sequence=AAG23818.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL16 Gene

neXtProt entry for MRPL16 Gene

Post-translational modifications for MRPL16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL16 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL16 Gene

Domains & Families for MRPL16 Gene

Gene Families for MRPL16 Gene

Protein Domains for MRPL16 Gene

InterPro:
Blocks:
  • Ribosomal protein L16

Suggested Antigen Peptide Sequences for MRPL16 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L16, mitochondrial (RM16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NX20

UniProtKB/Swiss-Prot:

RM16_HUMAN :
  • Belongs to the universal ribosomal protein uL16 family.
Family:
  • Belongs to the universal ribosomal protein uL16 family.
genes like me logo Genes that share domains with MRPL16: view

Function for MRPL16 Gene

Phenotypes From GWAS Catalog for MRPL16 Gene

Gene Ontology (GO) - Molecular Function for MRPL16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IEA,IBA 21873635
GO:0019843 rRNA binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with MRPL16: view
genes like me logo Genes that share phenotypes with MRPL16: view

miRNA for MRPL16 Gene

miRTarBase miRNAs that target MRPL16

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL16

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL16 Gene

Localization for MRPL16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL16 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 MRPL16 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 1
nucleus 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for MRPL16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,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 MRPL16: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPL16 Gene

Pathways & Interactions for MRPL16 Gene

genes like me logo Genes that share pathways with MRPL16: view

Gene Ontology (GO) - Biological Process for MRPL16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0032543 mitochondrial translation IBA 21873635
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL16: view

No data available for SIGNOR curated interactions for MRPL16 Gene

Drugs & Compounds for MRPL16 Gene

No Compound Related Data Available

Transcripts for MRPL16 Gene

mRNA/cDNA for MRPL16 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL16

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL16 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1: - - - - - -
SP2: - - - - -
SP3: - -
SP4: - -
SP5:

Relevant External Links for MRPL16 Gene

GeneLoc Exon Structure for
MRPL16

Expression for MRPL16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL16 Gene

Protein differential expression in normal tissues from HIPED for MRPL16 Gene

This gene is overexpressed in Urine (18.1), Lung (6.5), and Neutrophil (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL16 Gene



Protein tissue co-expression partners for MRPL16 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL16

SOURCE GeneReport for Unigene cluster for MRPL16 Gene:

Hs.530734

Evidence on tissue expression from TISSUES for MRPL16 Gene

  • Lung(4.4)
  • Nervous system(3)
  • Intestine(2.1)
  • Liver(2)
genes like me logo Genes that share expression patterns with MRPL16: view

Primer products for research

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 MRPL16 Gene

Orthologs for MRPL16 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL16 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL16 29 30
  • 99.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 88 (a)
OneToMany
-- 30
  • 85 (a)
OneToMany
LOC100855841 29
  • 84.88 (n)
Mouse
(Mus musculus)
Mammalia Mrpl16 29 16 30
  • 85.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl16 29
  • 84.06 (n)
Cow
(Bos Taurus)
Mammalia MRPL16 29 30
  • 84.06 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MRPL16 30
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRPL16 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPL16 29 30
  • 66.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPL16 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101731117 29
  • 60.47 (n)
Zebrafish
(Danio rerio)
Actinopterygii mrpl16 29 30
  • 63.41 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10314 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004985 29
  • 52.49 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL16 29 30 31
  • 50.84 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mrpl-16 29 30
  • 45.05 (n)
OneToOne
Species where no ortholog for MRPL16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for MRPL16 Gene

ENSEMBL:
Gene Tree for MRPL16 (if available)
TreeFam:
Gene Tree for MRPL16 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL16: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL16

Paralogs for MRPL16 Gene

No data available for Paralogs for MRPL16 Gene

Variants for MRPL16 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL16 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs491671 Likely Benign: not provided 59,806,484(-) G/Ap.Arg207Cys
NM_017840.4(MRPL16):c.619C>T (p.Arg207Cys)
MISSENSE
rs12787462 -- p.Arg199Gln
rs7122468 -- p.Gly29Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL16 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for MRPL16 Gene

Residual Variation Intolerance Score: 79.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.52; 55.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL16 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL16
Leiden Open Variation Database (LOVD)
MRPL16

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MRPL16 Gene

Disorders for MRPL16 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MRPL16 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL16

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MRPL16: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL16 Gene

Publications for MRPL16 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 40
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for MRPL16 Gene

Sources for MRPL16 Gene