MRPS7 Gene (Protein Coding)

Mitochondrial Ribosomal Protein S7

GC17P075262
GIFtS:
40
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 MRPS7 Gene

Aliases for MRPS7 Gene

  • Mitochondrial Ribosomal Protein S7 2 3 5
  • Mitochondrial Small Ribosomal Subunit Protein US7m 3 4
  • 28S Ribosomal Protein S7, Mitochondrial 3 4
  • BMRP-27a 3 4
  • BMRP27a 3 4
  • MRP-S7 3 4
  • MRP-S 2 3
  • RP-S7 2 3
  • RPMS7 2 3
  • S7mt 3 4
  • 30S Ribosomal Protein S7 Homolog 3
  • COXPD34 3
  • MRPS7 5

External Ids for MRPS7 Gene

Previous GeneCards Identifiers for MRPS7 Gene

  • GC17P073254
  • GC17P076316
  • GC17P073721
  • GC17P073854
  • GC17P070769
  • GC17P068667

Summaries for MRPS7 Gene

Entrez Gene Summary for MRPS7 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. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPS7 Gene

MRPS7 (Mitochondrial Ribosomal Protein S7) is a Protein Coding gene. Diseases associated with MRPS7 include Combined Oxidative Phosphorylation Deficiency 34 and Dubin-Johnson Syndrome. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is RPS5.

Gene Wiki entry for MRPS7 Gene

Additional gene information for MRPS7 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPS7 Gene

Genomics for MRPS7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MRPS7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPS7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPS7

Top Transcription factor binding sites by QIAGEN in the MRPS7 gene promoter:
  • AP-4
  • c-Ets-1
  • c-Myb
  • E47
  • GCNF-1
  • Lmo2
  • Pax-2
  • Pax-2a
  • STAT3

Genomic Locations for MRPS7 Gene

Latest Assembly
chr17:75,261,674-75,266,376
(GRCh38/hg38)
Size:
4,703 bases
Orientation:
Plus strand

Previous Assembly
chr17:73,257,960-73,262,457
(GRCh37/hg19 by Entrez Gene)
Size:
4,498 bases
Orientation:
Plus strand

chr17:73,257,755-73,262,454
(GRCh37/hg19 by Ensembl)
Size:
4,700 bases
Orientation:
Plus strand

Genomic View for MRPS7 Gene

Genes around MRPS7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPS7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPS7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MRPS7 Gene

Proteins for MRPS7 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for MRPS7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2R9-RT07_HUMAN
    Recommended name:
    28S ribosomal protein S7, mitochondrial
    Protein Accession:
    Q9Y2R9
    Secondary Accessions:
    • B2R9N5
    • Q53GD6

    Protein attributes for MRPS7 Gene

    Size:
    242 amino acids
    Molecular mass:
    28134 Da
    Quaternary structure:
    • Component of the mitochondrial small ribosomal subunit (mt-SSU), essential for mitochondrial protein synthesis (PubMed:25556185, 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:25838379).

    Three dimensional structures from OCA and Proteopedia for MRPS7 Gene

neXtProt entry for MRPS7 Gene

Protein Expression for MRPS7 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MRPS7 Gene

  • Ubiquitination at Lys48, Lys125, Lys163, and Lys221
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPS7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPS7 Gene

Domains & Families for MRPS7 Gene

Gene Families for MRPS7 Gene

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

Protein Domains for MRPS7 Gene

InterPro:
Blocks:
  • Ribosomal protein S7
ProtoNet:

Suggested Antigen Peptide Sequences for MRPS7 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial ribosomal protein S7 (Q96Q63_HUMAN)
  • bMRP-27a (RT07_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2R9

UniProtKB/Swiss-Prot:

RT07_HUMAN :
  • Belongs to the universal ribosomal protein uS7 family.
Family:
  • Belongs to the universal ribosomal protein uS7 family.
genes like me logo Genes that share domains with MRPS7: view

Function for MRPS7 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for MRPS7 Gene

Gene Ontology (GO) - Molecular Function for MRPS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003729 mRNA binding IBA 21873635
GO:0003735 structural constituent of ribosome IBA,ISS --
GO:0019843 rRNA binding IBA 21873635
genes like me logo Genes that share ontologies with MRPS7: view
genes like me logo Genes that share phenotypes with MRPS7: view

Human Phenotype Ontology for MRPS7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPS7

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MRPS7 Gene

Localization for MRPS7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPS7 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 MRPS7 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005763 mitochondrial small ribosomal subunit IBA,ISS --
GO:0005840 ribosome IEA,IBA 21873635
genes like me logo Genes that share ontologies with MRPS7: view

Pathways & Interactions for MRPS7 Gene

genes like me logo Genes that share pathways with MRPS7: view

Gene Ontology (GO) - Biological Process for MRPS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IBA 21873635
GO:0006412 translation IEA,IBA 21873635
GO:0032543 mitochondrial translation ISS --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPS7: view

No data available for SIGNOR curated interactions for MRPS7 Gene

Drugs & Compounds for MRPS7 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for MRPS7 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for MRPS7 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 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 MRPS7

Alternative Splicing Database (ASD) splice patterns (SP) for MRPS7 Gene

No ASD Table

Relevant External Links for MRPS7 Gene

GeneLoc Exon Structure for
MRPS7

Expression for MRPS7 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPS7 Gene

mRNA expression in normal human tissues for MRPS7 Gene
mRNA expression by BioGPS for MRPS7 GenemRNA expression by GTEx for MRPS7 Gene

Protein differential expression in normal tissues from HIPED for MRPS7 Gene

This gene is overexpressed in Liver (9.9), Pancreas (9.2), and Lung (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPS7 Gene



Protein tissue co-expression partners for MRPS7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPS7

SOURCE GeneReport for Unigene cluster for MRPS7 Gene:

Hs.71787

Evidence on tissue expression from TISSUES for MRPS7 Gene

  • Intestine(4.6)
  • Muscle(4.5)
  • Blood(4.5)
  • Eye(4.5)
  • Nervous system(4)
  • Liver(3)
  • Kidney(2.9)
  • Heart(2.9)
  • Lung(2.9)
  • Skin(2.8)
  • Thyroid gland(2.2)
  • Lymph node(2.2)
  • Adrenal gland(2.1)
  • Stomach(2.1)
  • Gall bladder(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with MRPS7: 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 MRPS7 Gene

Orthologs for MRPS7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRPS7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MRPS7 30 31
  • 99.17 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MRPS7 30 31
  • 87.6 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MRPS7 30 31
  • 86.64 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mrps7 30 17 31
  • 82.78 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mrps7 30
  • 82.51 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MRPS7 31
  • 71 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MRPS7 31
  • 68 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MRPS7 30 31
  • 68.24 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MRPS7 31
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mrps7 30
  • 62.83 (n)
Str.10836 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7175 30
Zebrafish
(Danio rerio)
 Actinopterygii mrps7 30 31
  • 64.48 (n)
 OneToOne
wufb66e05 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3540 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009613 30
  • 55.44 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta mRpS7 30 31 32
  • 54.42 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea mrps-7 30 31
  • 47.92 (n)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons rps7 30
  • 42.89 (n)
Rice
(Oryza sativa)
 Liliopsida rps7 30
  • 41.96 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.6785 31
  • 34 (a)
 OneToOne
Species where no ortholog for MRPS7 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for MRPS7 Gene

ENSEMBL:
Gene Tree for MRPS7 (if available)
TreeFam:
Gene Tree for MRPS7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPS7: view image

Paralogs for MRPS7 Gene

Paralogs for MRPS7 Gene

Pseudogenes.org Pseudogenes for MRPS7 Gene

genes like me logo Genes that share paralogs with MRPS7: view

Variants for MRPS7 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPS7 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs115006555 Likely Benign: not specified 75,265,818(+) G/A
NM_015971.4(MRPS7):c.624G>A (p.Lys208=) 		SYNONYMOUS
rs115047866 Likely Pathogenic: Combined oxidative phosphorylation deficiency 34. Combined oxidative phosphorylation deficiency 34 (COXPD34) [MIM:617872] 75,265,744(+) A/Gp.Met184Val
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) 		MISSENSE
rs115955242 Likely Benign: not specified 75,262,530(+) T/C
NM_015971.4(MRPS7):c.117T>C (p.Pro39=) 		SYNONYMOUS
rs116366134 Benign: not provided 75,262,423(+) T/C
NM_015971.4(MRPS7):c.84-74T>C 		INTRON
rs148321039 Likely Benign: not specified 75,265,848(+) C/G
NM_015971.4(MRPS7):c.654C>G (p.Pro218=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPS7 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 MRPS7 Gene

Variant ID Type Subtype PubMed ID
nsv1066312 CNV gain 25217958
nsv510727 CNV deletion 20534489
nsv576027 CNV gain 21841781

Variation tolerance for MRPS7 Gene

Residual Variation Intolerance Score: 47.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPS7 Gene

Human Gene Mutation Database (HGMD)
MRPS7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPS7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPS7 Gene

Disorders for MRPS7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MRPS7 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MRPS7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RT07_HUMAN
  • Combined oxidative phosphorylation deficiency 34 (COXPD34) [MIM:617872]: An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure. {ECO:0000269 PubMed:25556185}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MRPS7

Genetic Association Database
(GAD)
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 MRPS7: view

No data available for Genatlas for MRPS7 Gene

Publications for MRPS7 Gene

  1. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. (PMID: 25556185) Menezes MJ … Christodoulou J (Human molecular genetics 2015) 3 4 74
  2. Ribosome. The structure of the human mitochondrial ribosome. (PMID: 25838379) Amunts A … Ramakrishnan V (Science (New York, N.Y.) 2015) 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 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
  5. Identification and characterization of over 100 mitochondrial ribosomal protein pseudogenes in the human genome. (PMID: 12706105) Zhang Z … Gerstein M (Genomics 2003) 3 23

ExternalLinks

View latest publications for MRPS7 gene in Mastermind

Products for MRPS7 Gene

Sources for MRPS7 Gene