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

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; AllianceGenome:HGNC:14051
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; bS6m; 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: mouse all
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Genomic context

Location:: 21q22.11

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (34073578..34143030)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (32455648..32525106)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (35445878..35515330)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MRPS6 modulates glucose-stimulated insulin secretion in mouse islet cells through mitochondrial unfolded protein response.
Title: MRPS6 modulates glucose-stimulated insulin secretion in mouse islet cells through mitochondrial unfolded protein response.
Mitochondrial ribosomal small subunit proteins (MRPS) MRPS6 and MRPS23 show dysregulation in breast cancer affecting tumorigenic cellular processes.
Title: Mitochondrial ribosomal small subunit proteins (MRPS) MRPS6 and MRPS23 show dysregulation in breast cancer affecting tumorigenic cellular processes.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Additive effect of multiple genetic variants on the risk of coronary artery disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

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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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20293 (e-PCR)
- UniSTS:24899

A005K42 (e-PCR)
- UniSTS:24900

A004F10 (e-PCR)
- UniSTS:59471

SHGC-87543 (e-PCR)
- UniSTS:22922

WI-11818 (e-PCR)
- UniSTS:76683

RH35989 (e-PCR)
- UniSTS:46223

RH104128 (e-PCR)
- UniSTS:98453

MRPS6_3115.2 (e-PCR)
- UniSTS:466344

RH78031 (e-PCR)
- UniSTS:26035

D21S1941 (e-PCR)
- UniSTS:28398

Cda0ae11 (e-PCR)
- UniSTS:9712

SHGC-87556 (e-PCR)
- UniSTS:34296

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small ribosomal subunit rRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of ribosome	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of ribosome	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables structural constituent of ribosome	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial translation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in mitochondrial translation	NAS Non-traceable Author Statement more info	PubMed
involved_in 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	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial small ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial small ribosomal subunit	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of mitochondrial small ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of small ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: small ribosomal subunit protein bS6m

Names: 28S ribosomal protein S6, mitochondrial; mitochondrial small ribosomal subunit protein bS6m

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.