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    MRPS7 mitochondrial ribosomal protein S7 [ Homo sapiens (human) ]

    Gene ID: 51081, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MRPS7provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein S7provided by HGNC
    Primary source
    HGNC:HGNC:14499
    See related
    Ensembl:ENSG00000125445 MIM:611974; AllianceGenome:HGNC:14499
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    S7mt; uS7m; MRP-S; RP-S7; RPMS7; MRP-S7; COXPD34; bMRP27a
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 37.2), kidney (RPKM 29.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPS7 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75261879..75266376)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76153972..76158469)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73257960..73262457)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene small ubiquitin like modifier 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73178362-73179012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73200579-73201513 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73201514-73202447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73203873-73204440 Neighboring gene nucleoporin 85 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73220785-73221286 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73221550-73222749 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73230746-73230909 Neighboring gene Sharpr-MPRA regulatory region 15557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12740 Neighboring gene Sharpr-MPRA regulatory region 8279 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12741 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73257869-73258746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73268227-73269014 Neighboring gene MIF4GD divergent transcript Neighboring gene MIF4G domain containing Neighboring gene solute carrier family 25 member 19 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:73284659-73285160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8963 Neighboring gene uncharacterized LOC124904059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12750

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Menezes MJ, et al. Hum Mol Genet, 2015 Apr 15. PMID 25556185
    2. Identification of a mammalian mitochondrial homolog of ribosomal protein S7. Cavdar Koc E, et al. Biochem Biophys Res Commun, 1999 Dec 9. PMID 10581179
    3. TRAF4 promotes TGF-β receptor signaling and drives breast cancer metastasis. Zhang L, et al. Mol Cell, 2013 Sep 12. PMID 23973329
    4. USP15 Deubiquitinase Safeguards Hematopoiesis and Genome Integrity in Hematopoietic Stem Cells and Leukemia Cells. van den Berk P, et al. Cell Rep, 2020 Dec 29. PMID 33378683, Free PMC Article
    5. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article

    See all (120) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study identified MRPS7 mutation as a novel cause of congenital sensorineural deafness and progressive hepatic and renal failure.
      Title: Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 34
    MedGen: C4693450 OMIM: 617872 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables rRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in ribosomal small subunit assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of mitochondrial small ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial small ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial small ribosomal subunit ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of mitochondrial small ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    small ribosomal subunit protein uS7m
    Names
    28S ribosomal protein S7, mitochondrial
    30S ribosomal protein S7 homolog
    bMRP-27a
    mitochondrial small ribosomal subunit protein uS7m
    NP_057055.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_015971.4 → NP_057055.2  small ribosomal subunit protein uS7m

      See identical proteins and their annotated locations for NP_057055.2

      Status: REVIEWED

      Source sequence(s)
      AC022211
      Consensus CDS
      CCDS11718.1
      UniProtKB/Swiss-Prot
      B2R9N5, Q53GD6, Q9Y2R9
      Related
      ENSP00000245539.6, ENST00000245539.11
      Conserved Domains (1) summary
      cd14870
      Location:35 → 240
      uS7_Mitochondria_Mammalian; Mammalian Mitochondrial homolog of Ribosomal Protein S7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75261879..75266376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76153972..76158469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2R9.2 GenPept UniProtKB/Swiss-Prot:Q9Y2R9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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