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    MRPS27 mitochondrial ribosomal protein S27 [ Homo sapiens (human) ]

    Gene ID: 23107, updated on 9-Dec-2024

    Summary

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    Official Symbol
    MRPS27provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein S27provided by HGNC
    Primary source
    HGNC:HGNC:14512
    See related
    Ensembl:ENSG00000113048 MIM:611989; AllianceGenome:HGNC:14512
    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
    mS27; S27mt; MRP-S27
    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 that may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 20.7), heart (RPKM 19.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPS27 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (72219403..72320240, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (72700573..72801410, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (71515230..71616067, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379028 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:71403221-71404203 Neighboring gene Sharpr-MPRA regulatory region 7919 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:71418105-71418608 Neighboring gene microtubule associated protein 1B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:71453937-71454436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:71475503-71476092 Neighboring gene microRNA 4803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22644 Neighboring gene Sharpr-MPRA regulatory region 4397 Neighboring gene Sharpr-MPRA regulatory region 3458 Neighboring gene uncharacterized LOC107986422 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:71597159-71598114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16079 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:71607834-71608334 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:71615118-71615659 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:71615660-71616200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22648 Neighboring gene RNA, 7SL, cytoplasmic 153, pseudogene Neighboring gene pentatricopeptide repeat domain 2 Neighboring gene ribosomal protein L10a pseudogene 8

    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
    • 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. The value of RPS15 and MRPS27 in ischemic stroke. Zhao M, et al. Medicine (Baltimore), 2023 Aug 18. PMID 37603533, Free PMC Article
    2. MRPS27 is a pentatricopeptide repeat domain protein required for the translation of mitochondrially encoded proteins. Davies SM, et al. FEBS Lett, 2012 Oct 19. PMID 22841715
    3. High MRPS23 expression contributes to hepatocellular carcinoma proliferation and indicates poor survival outcomes. Pu M, et al. Tumour Biol, 2017 Jul. PMID 28714366
    4. Mitochondrial ribosomal protein L12 selectively associates with human mitochondrial RNA polymerase to activate transcription. Surovtseva YV, et al. Proc Natl Acad Sci U S A, 2011 Nov 1. PMID 22003127, Free PMC Article
    5. hNOA1 interacts with complex I and DAP3 and regulates mitochondrial respiration and apoptosis. Tang T, et al. J Biol Chem, 2009 Feb 20. PMID 19103604, Free PMC Article

    See all (138) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The value of RPS15 and MRPS27 in ischemic stroke.
      Title: The value of RPS15 and MRPS27 in ischemic stroke.
    2. we verified for the first time that mitochondrial ribosomal protein S23 expression was upregulated in hepatocellular carcinoma. High mitochondrial ribosomal protein S23 levels can predict poor clinical outcomes in hepatocellular carcinoma, and this protein plays a key role in tumor proliferation. Therefore, mitochondrial ribosomal protein S23 may be a potential therapeutic target for hepatocellular carcinoma.
      Title: High MRPS23 expression contributes to hepatocellular carcinoma proliferation and indicates poor survival outcomes.
    3. MRPS27 is required for mitochondrial protein synthesis
      Title: MRPS27 is a pentatricopeptide repeat domain protein required for the translation of mitochondrially encoded proteins.
    4. 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

    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

    Potential readthrough

    Included gene: ZNF366

    Homology

    Clone Names

    • FLJ21764, FLJ23348, FLJ38645, KIAA0264

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mitochondrial ribosome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables rRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables tRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of mitochondrial translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    small ribosomal subunit protein mS27
    Names
    28S ribosomal protein S27, mitochondrial
    mitochondrial 28S ribosomal protein S27
    mitochondrial small ribosomal subunit protein mS27

    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_001286748.2 → NP_001273677.1  small ribosomal subunit protein mS27 isoform 1

      See identical proteins and their annotated locations for NP_001273677.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC012609, AC026406, AK299412, BC003632, BM995930
      Consensus CDS
      CCDS68890.1
      UniProtKB/TrEMBL
      A0A8Q3WKZ8
      Related
      ENSP00000426941.1, ENST00000513900.6
      Conserved Domains (2) summary
      sd00004
      Location:122 → 149
      PPR; PPR repeat [structural motif]
      pfam10037
      Location:1 → 418
      MRP-S27; Mitochondrial 28S ribosomal protein S27

    2. NM_001286751.2 → NP_001273680.1  small ribosomal subunit protein mS27 isoform 3

      See identical proteins and their annotated locations for NP_001273680.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC012609, AC026406, BC011818, BM995930
      Consensus CDS
      CCDS75257.1
      UniProtKB/TrEMBL
      B4DT94, G5EA06
      Related
      ENSP00000428120.2, ENST00000457646.9
      Conserved Domains (2) summary
      sd00004
      Location:52 → 79
      PPR; PPR repeat [structural motif]
      pfam10037
      Location:1 → 348
      MRP-S27; Mitochondrial 28S ribosomal protein S27

    3. NM_015084.3 → NP_055899.2  small ribosomal subunit protein mS27 isoform 2

      See identical proteins and their annotated locations for NP_055899.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AC012609, AK025417, BM995930, DC341760
      Consensus CDS
      CCDS4013.1
      UniProtKB/Swiss-Prot
      B4DRT2, Q6P1S1, Q92552
      UniProtKB/TrEMBL
      A0A8Q3WKZ8
      Related
      ENSP00000261413.5, ENST00000261413.10
      Conserved Domains (2) summary
      sd00004
      Location:108 → 135
      PPR; PPR repeat [structural motif]
      pfam10037
      Location:1 → 404
      MRP-S27; Mitochondrial 28S ribosomal protein S27

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      72219403..72320240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      72700573..72801410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92552.3 GenPept UniProtKB/Swiss-Prot:Q92552

    Gene LinkOut

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