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

Gene ID: 23107, updated on 2-Mar-2021

Summary

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
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
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

See MRPS27 in Genome Data Viewer
Location:
5q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (72219403..72320240, complement)
105.20201022 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 Sharpr-MPRA regulatory region 7919 Neighboring gene microtubule associated protein 1B Neighboring gene microRNA 4803 Neighboring gene uncharacterized LOC107986422 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

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ZNF366

Homology

Clone Names

  • FLJ21764, FLJ23348, FLJ38645, KIAA0264

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mitochondrial ribosome binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
rRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
tRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial translational elongation TAS
Traceable Author Statement
more info
 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
positive regulation of mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial small ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
28S ribosomal protein S27, mitochondrial
Names
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_001286748.2NP_001273677.1  28S ribosomal protein S27, mitochondrial 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/Swiss-Prot
    Q92552
    UniProtKB/TrEMBL
    Q6PKB3
    Related
    ENSP00000426941.1, ENST00000513900.5
    Conserved Domains (2) summary
    sd00004
    Location:122149
    PPR; PPR repeat [structural motif]
    pfam10037
    Location:1418
    MRP-S27; Mitochondrial 28S ribosomal protein S27
  2. NM_001286751.2NP_001273680.1  28S ribosomal protein S27, mitochondrial 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
    G5EA06
    Related
    ENSP00000428120.2, ENST00000457646.8
    Conserved Domains (2) summary
    sd00004
    Location:5279
    PPR; PPR repeat [structural motif]
    pfam10037
    Location:1348
    MRP-S27; Mitochondrial 28S ribosomal protein S27
  3. NM_015084.3NP_055899.2  28S ribosomal protein S27, mitochondrial 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
    Q92552
    UniProtKB/TrEMBL
    A0A024RAJ1
    Related
    ENSP00000261413.5, ENST00000261413.9
    Conserved Domains (2) summary
    sd00004
    Location:108135
    PPR; PPR repeat [structural motif]
    pfam10037
    Location:1404
    MRP-S27; Mitochondrial 28S ribosomal protein S27

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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