MRPS6 mitochondrial ribosomal protein S6 [Homo sapiens] - Gene

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Summary

Official Symbol: MRPS6provided by HGNC
Official Full Name: mitochondrial ribosomal protein S6provided by HGNC
Primary source: HGNC:14051
See related: Ensembl:ENSG00000243927; HPRD:11374; MIM:611973; Vega:OTTHUMG00000065820
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]

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Genomic context

Location :: 21q22.11

Sequence :: Chromosome: 21; NC_000021.8 (35445823..35515334)

See MRPS6 in Epigenomics, MapViewer

Chromosome 21 - NC_000021.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

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Products	Interactant	Other Gene	Source	Pubs	Description
P82932	Q9P2H0	KIAA1377	HPRD	PubMed
P82932	Q5T3J3	LRIF1	HPRD	PubMed
BioGRID:122361	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:122361	BioGRID:121617	KIAA1377	BioGRID	PubMed	Two-hybrid
BioGRID:122361	BioGRID:120905	LRIF1	BioGRID	PubMed	Two-hybrid
BioGRID:122361	BioGRID:117071	SRRM2	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
rRNA binding	IEA Inferred from Electronic Annotation more info
structural constituent of ribosome	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
translation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
mitochondrion	IEA Inferred from Electronic Annotation more info
ribosome	IEA Inferred from Electronic Annotation more info
small ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed

General protein information

Preferred Names: 28S ribosomal protein S6, mitochondrial

Names: 28S ribosomal protein S6, mitochondrial

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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)

NM_032476.3 → NP_115865.1 28S ribosomal protein S6, mitochondrial

Status: REVIEWED

Source sequence(s)

AY061855, DB571303

Consensus CDS

CCDS33548.1

UniProtKB/Swiss-Prot

P82932

Related

ENSP00000382250, OTTHUMP00000068540, ENST00000399312, OTTHUMT00000141033

Conserved Domains (1) summary

cl00414
Location:3 – 95
Blast Score: 139

Ribosomal_S6; Ribosomal protein S6

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000021.8 Reference GRCh37.p5 Primary Assembly

Range

35445823..35515334

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000153.1 Alternate HuRef

Range

20976108..20993807

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB051347.1	BAB54937.1
genomic	AP000315.1	None
genomic	AP000467.1 (22431..47201)	None
genomic	CH471079.2	EAX09795.1
		EAX09798.1
mRNA	AB049942.1	BAB40995.1
mRNA	AI799469.1	None
mRNA	AK096374.1	None
mRNA	AK312084.1	BAG35020.1
mRNA	AY061855.1	AAL35739.1
mRNA	BC000547.2	AAH00547.2
mRNA	BC004976.1	AAH04976.2
mRNA	BC010076.2	AAH10076.1
mRNA	BC042752.1	None
mRNA	BC051302.1	AAH51302.1
mRNA	BG720377.1	None
mRNA	DB571303.1	None
other-genetic	HQ448691.1	ADQ33169.1