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    MRPS25 mitochondrial ribosomal protein S25 [ Homo sapiens (human) ]

    Gene ID: 64432, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MRPS25provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein S25provided by HGNC
    Primary source
    HGNC:HGNC:14511
    See related
    Ensembl:ENSG00000131368 MIM:611987; AllianceGenome:HGNC:14511
    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
    mS25; RPMS25; COXPD50; MRP-S25
    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. A pseudogene corresponding to this gene is found on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in brain (RPKM 11.7), thyroid (RPKM 11.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPS25 in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (15042251..15065315, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (15044674..15067729, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15083758..15106822, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene FYVE, RhoGEF and PH domain containing 5 Neighboring gene uncharacterized LOC105376963 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14962633-14963132 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:14963648-14964847 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:14965692-14965871 Neighboring gene Sharpr-MPRA regulatory region 15385 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14988241-14988930 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14989619-14990306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14097 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14990307-14990994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19523 Neighboring gene FGD5 antisense RNA 1 Neighboring gene nuclear receptor subfamily 2 group C member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:15066535-15067034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14100 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:15139860-15140724 Neighboring gene rabenosyn, RAB effector Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:15149813-15150312 Neighboring gene ribosomal protein S24 pseudogene 10

    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. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Bugiardini E, et al. Hum Mol Genet, 2019 Aug 15. PMID 31039582, Free PMC Article
    2. A proteomics approach to the identification of mammalian mitochondrial small subunit ribosomal proteins. Koc EC, et al. J Biol Chem, 2000 Oct 20. PMID 10938081
    3. Characterization of long cDNA clones from human adult spleen. Hattori A, et al. DNA Res, 2000 Dec 31. PMID 11214971
    4. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article
    5. p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. Yagi M, et al. Nucleic Acids Res, 2012 Oct. PMID 22904065, Free PMC Article

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. our data demonstrate the pathogenicity of the p.P72L variant and identify MRPS25 mutations as a new cause of mitochondrial translation defect.
      Title: MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
    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 50
    MedGen: C5436623 OMIM: 619025 GeneReviews: Not available
    		not available

    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

    Clone Names

    • FLJ00023, DKFZp313H0817

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    small ribosomal subunit protein mS25
    Names
    28S ribosomal protein S25, mitochondrial
    S25mt
    mitochondrial 28S ribosomal protein S25
    mitochondrial small ribosomal subunit protein mS25
    NP_071942.1

    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_022497.5 → NP_071942.1  small ribosomal subunit protein mS25

      See identical proteins and their annotated locations for NP_071942.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the supported protein.
      Source sequence(s)
      AI288348, AK024433, BC003590, DA729310
      Consensus CDS
      CCDS2622.1
      UniProtKB/Swiss-Prot
      B4DFJ5, B4DQG6, P82663, Q9H7P5
      UniProtKB/TrEMBL
      A0A8Q3SHU8
      Related
      ENSP00000253686.2, ENST00000253686.7
      Conserved Domains (1) summary
      smart00916
      Location:43 → 108
      L51_S25_CI-B8; Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

    RNA

    1. NR_135246.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090954
      Related
      ENST00000447299.3

    2. NR_135247.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090954
      Related
      ENST00000695385.1

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      15042251..15065315 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      15044674..15067729 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P82663.1 GenPept UniProtKB/Swiss-Prot:P82663

    Gene LinkOut

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

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