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 MRPS6 Gene

Aliases for MRPS6 Gene

  • Mitochondrial Ribosomal Protein S6 2 3 5
  • MRP-S6 2 3 4
  • RPMS6 2 3 4
  • Mitochondrial Small Ribosomal Subunit Protein BS6m 3 4
  • 28S Ribosomal Protein S6, Mitochondrial 3 4
  • C21orf101 3 4
  • S6mt 3 4
  • Chromosome 21 Open Reading Frame 101 2
  • MRPS6 5

External Ids for MRPS6 Gene

Previous HGNC Symbols for MRPS6 Gene

  • C21orf101

Previous GeneCards Identifiers for MRPS6 Gene

  • GC21P032023
  • GC21P034366
  • GC21P034367
  • GC21P035446
  • GC21P035448
  • GC21P020976
  • GC21P035450
  • GC21P035452
  • GC21P035454
  • GC21P035456
  • GC21P035458
  • GC21P035460
  • GC21P034074
  • GC21P034076
  • GC21P034097
  • GC21P034099
  • GC21P034106
  • GC21P034108
  • GC21P034078
  • GC21P034081
  • GC21P034085
  • GC21P034087
  • GC21P034089
  • GC21P034091
  • GC21P034093
  • GC21P034095
  • GC21P034110
  • GC21P034112

Summaries for MRPS6 Gene

Entrez Gene Summary for MRPS6 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 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPS6 Gene

MRPS6 (Mitochondrial Ribosomal Protein S6) is a Protein Coding gene. Diseases associated with MRPS6 include Type 1 Diabetes Mellitus 19 and Jervell And Lange-Nielsen Syndrome 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 small ribosomal subunit rRNA binding.

Gene Wiki entry for MRPS6 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPS6 Gene

Genomics for MRPS6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPS6 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
GH21J034072 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.2 1152 4.4 MYC IKZF1 ZNF592 POLR2A NFIC YY1 NONO REST SMAD5 BHLHE40 ENSG00000272657 HSALNG0132827 MRPS6 SLC5A3 TMEM50B DONSON SON GART RPS5P2 KCNE2
GH21J034071 Enhancer 0.5 ENCODE 250.7 -1.2 -1240 0 CEBPA RARA BCL6 ZNF652 MBD1 GATAD2A MZF1 SOX13 CREB1 ENSG00000272657 MRPS6 SLC5A3 lnc-MRPS6-3 ENSG00000249209
GH21J034087 Promoter 0.5 EPDnew 250.4 +14.5 14488 0.1 ZNF600 TSC22D4 MRPS6 HSALNG0132827 ENSG00000272657 SLC5A3 RPS5P2 KCNE2
GH21J033935 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -134.8 -134772 5.8 ZNF580 MAFF ZNF316 ZNF146 MAFK CBX1 SPI1 MAX BATF ZNF384 LINC00649 ATP5PO SLC5A3 MRPS6 ENSG00000214955 GART SON ENSG00000249209 HSALNG0132813-001 HSALNG0132813-002
GH21J034111 Enhancer 0.9 Ensembl 18.6 +37.8 37776 0.4 MYC IKZF1 NCOR1 ZNF592 NFIC NONO HES1 BHLHE40 MBD2 MNT MRPS6 SLC5A3 ENSG00000214955 RPS5P2 ENSG00000272657 HSALNG0132827 KCNE2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPS6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPS6

Top Transcription factor binding sites by QIAGEN in the MRPS6 gene promoter:
  • FOXO3
  • FOXO3a
  • FOXO3b
  • GATA-1
  • GCNF
  • ISGF-3
  • LCR-F1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MRPS6 Gene

Latest Assembly
chr21:34,073,224-34,143,034
(GRCh38/hg38)
Size:
69,811 bases
Orientation:
Plus strand

Previous Assembly
chr21:35,445,878-35,515,330
(GRCh37/hg19 by Entrez Gene)
Size:
69,453 bases
Orientation:
Plus strand

chr21:35,445,524-35,515,334
(GRCh37/hg19 by Ensembl)
Size:
69,811 bases
Orientation:
Plus strand

Genomic View for MRPS6 Gene

Genes around MRPS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPS6 Gene

Proteins for MRPS6 Gene

  • Protein details for MRPS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P82932-RT06_HUMAN
    Recommended name:
    28S ribosomal protein S6, mitochondrial
    Protein Accession:
    P82932
    Secondary Accessions:
    • B2R573
    • Q96Q64
    • Q9BSK8
    • Q9BW89

    Protein attributes for MRPS6 Gene

    Size:
    125 amino acids
    Molecular mass:
    14227 Da
    Quaternary structure:
    • Component of the mitochondrial small ribosomal subunit (mt-SSU). 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=BAB40995.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPS6 Gene

neXtProt entry for MRPS6 Gene

Post-translational modifications for MRPS6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPS6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for MRPS6
  • Santa Cruz Biotechnology (SCBT) Antibodies for MRPS6

No data available for DME Specific Peptides for MRPS6 Gene

Domains & Families for MRPS6 Gene

Gene Families for MRPS6 Gene

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

Protein Domains for MRPS6 Gene

InterPro:
Blocks:
  • Ribosomal protein S6

Suggested Antigen Peptide Sequences for MRPS6 Gene

GenScript: Design optimal peptide antigens:
  • 28S ribosomal protein S6, mitochondrial (RT06_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P82932

UniProtKB/Swiss-Prot:

RT06_HUMAN :
  • Belongs to the bacterial ribosomal protein bS6 family.
Family:
  • Belongs to the bacterial ribosomal protein bS6 family.
genes like me logo Genes that share domains with MRPS6: view

Function for MRPS6 Gene

Phenotypes From GWAS Catalog for MRPS6 Gene

Gene Ontology (GO) - Molecular Function for MRPS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IBA,NAS 11279123
GO:0005515 protein binding IPI 22458338
GO:0019843 rRNA binding IEA --
GO:0070181 small ribosomal subunit rRNA binding IBA 21873635
genes like me logo Genes that share ontologies with MRPS6: view
genes like me logo Genes that share phenotypes with MRPS6: view

miRNA for MRPS6 Gene

miRTarBase miRNAs that target MRPS6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPS6

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPS6 Gene

Localization for MRPS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPS6 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 MRPS6 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005763 mitochondrial small ribosomal subunit IBA,ISS 11402041
GO:0005840 ribosome IEA --
GO:0015935 small ribosomal subunit NAS 11279123
genes like me logo Genes that share ontologies with MRPS6: view

Pathways & Interactions for MRPS6 Gene

genes like me logo Genes that share pathways with MRPS6: view

Gene Ontology (GO) - Biological Process for MRPS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation NAS 11279123
GO:0032543 mitochondrial translation ISS 11402041
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPS6: view

No data available for SIGNOR curated interactions for MRPS6 Gene

Drugs & Compounds for MRPS6 Gene

No Compound Related Data Available

Transcripts for MRPS6 Gene

mRNA/cDNA for MRPS6 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 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 MRPS6

Alternative Splicing Database (ASD) splice patterns (SP) for MRPS6 Gene

No ASD Table

Relevant External Links for MRPS6 Gene

GeneLoc Exon Structure for
MRPS6

Expression for MRPS6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPS6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MRPS6 Gene

This gene is overexpressed in Lung (25.5) and Breast (19.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPS6 Gene



Protein tissue co-expression partners for MRPS6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPS6

SOURCE GeneReport for Unigene cluster for MRPS6 Gene:

Hs.302742

Evidence on tissue expression from TISSUES for MRPS6 Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Lung(2.4)
  • Heart(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with MRPS6: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPS6 Gene

Orthologs for MRPS6 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPS6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPS6 29
  • 100 (n)
SLC5A3 30
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPS6 30
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100360017 29
  • 84.27 (n)
Mouse
(Mus musculus)
Mammalia Mrps6 29 16 30
  • 84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPS6 29 30
  • 83.87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MRPS6 30
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRPS6 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPS6 29 30
  • 69.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPS6 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrps6 29
  • 66.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii mrps6 29 30
  • 55.56 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta mRpS6 30
  • 33 (a)
OneToOne
Species where no ortholog for MRPS6 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MRPS6 Gene

ENSEMBL:
Gene Tree for MRPS6 (if available)
TreeFam:
Gene Tree for MRPS6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPS6: view image
Alliance of Genome Resources:
Additional Orthologs for MRPS6

Paralogs for MRPS6 Gene

Pseudogenes.org Pseudogenes for MRPS6 Gene

genes like me logo Genes that share paralogs with MRPS6: view

No data available for Paralogs for MRPS6 Gene

Variants for MRPS6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPS6 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs535716171 Likely Benign: not provided 34,096,401(+) C/T
NM_006933.7(SLC5A3):c.1203C>T (p.Ser401=)
SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPS6 Gene

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

Structural Variations from Database of Genomic Variants (DGV) for MRPS6 Gene

Variant ID Type Subtype PubMed ID
dgv7820n54 CNV loss 21841781
dgv7821n54 CNV loss 21841781
dgv7822n54 CNV gain+loss 21841781
dgv7823n54 CNV gain 21841781
esv28721 CNV loss 19812545
esv3646915 CNV loss 21293372
esv3646916 CNV loss 21293372
esv3646917 CNV loss 21293372
nsv1073127 CNV deletion 25765185
nsv3499 CNV deletion 18451855
nsv438323 CNV loss 16468122
nsv587408 CNV loss 21841781
nsv587417 CNV loss 21841781
nsv587419 CNV loss 21841781
nsv953355 CNV deletion 24416366

Variation tolerance for MRPS6 Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPS6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPS6
Leiden Open Variation Database (LOVD)
MRPS6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPS6 Gene

Disorders for MRPS6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MRPS6 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search MRPS6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MRPS6

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 MRPS6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPS6 Gene

Publications for MRPS6 Gene

  1. Ribosome. The structure of the human mitochondrial ribosome. (PMID: 25838379) Amunts A … Ramakrishnan V (Science (New York, N.Y.) 2015) 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  3. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. (PMID: 20971364) Ripatti S … Kathiresan S (Lancet (London, England) 2010) 3 40
  4. Additive effect of multiple genetic variants on the risk of coronary artery disease. (PMID: 20738937) Lluís-Ganella C … Elosua R (Revista espanola de cardiologia 2010) 3 40
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 40

Products for MRPS6 Gene

Sources for MRPS6 Gene