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MRPS6 mitochondrial ribosomal protein S6 [ Homo sapiens (human) ]

Gene ID: 64968, updated on 7-Jun-2020

Summary

Official Symbol
MRPS6provided by HGNC
Official Full Name
mitochondrial ribosomal protein S6provided by HGNC
Primary source
HGNC:HGNC:14051
See related
Ensembl:ENSG00000243927 MIM:611973
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
S6mt; RPMS6; MRP-S6; C21orf101
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 belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 62.4), thyroid (RPKM 41.2) and 24 other tissues See more
Orthologs

Genomic context

See MRPS6 in Genome Data Viewer
Location:
21q22.11
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (34073578..34143030)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35445823..35515334)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928126 Neighboring gene uncharacterized LOC105372790 Neighboring gene uncharacterized LOC105372789 Neighboring gene solute carrier family 5 member 3 Neighboring gene RPS5 pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 310 Neighboring gene VISTA enhancer hs2174

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
small ribosomal subunit rRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of ribosome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
structural constituent of ribosome NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
mitochondrial translation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
mitochondrial translational elongation TAS
Traceable Author Statement
more info
 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
translation NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial small ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial small ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial small ribosomal subunit ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
small ribosomal subunit NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
28S ribosomal protein S6, mitochondrial
Names
mitochondrial small ribosomal subunit protein bS6m

NCBI Reference Sequences (RefSeq)

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_032476.4NP_115865.1  28S ribosomal protein S6, mitochondrial

    See identical proteins and their annotated locations for NP_115865.1

    Status: REVIEWED

    Source sequence(s)
    AY061855, DB571303
    Consensus CDS
    CCDS33548.1
    UniProtKB/Swiss-Prot
    P82932
    Related
    ENSP00000382250.2, ENST00000399312.3
    Conserved Domains (1) summary
    cd15465
    Location:396
    bS6_mito; Mitochondrial Ribosomal Protein (MRP) S6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    34073578..34143030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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