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

Gene ID: 23107, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (72219403..72320240, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (72700573..72801410, complement)
105.20220307 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. High MRPS23 expression contributes to hepatocellular carcinoma proliferation and indicates poor survival outcomes. Pu M, et al. Tumour Biol, 2017 Jul. PMID 28714366
  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. 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
  4. MIEF1 Microprotein Regulates Mitochondrial Translation. Rathore A, et al. Biochemistry, 2018 Sep 25. PMID 30215512, 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 (122) 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)

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

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 
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_2023_10

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

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

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