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

Gene ID: 64432, updated on 3-Nov-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
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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 (96) 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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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)

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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