MRPS12 mitochondrial ribosomal protein S12 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: MRPS12provided by HGNC
Official Full Name: mitochondrial ribosomal protein S12provided by HGNC
Primary source: HGNC:10380
See related: Ensembl:ENSG00000128626; HPRD:04316; MIM:603021; Vega:OTTHUMG00000182692
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: RPS12; RPMS12; RPSM12; MPR-S12; MT-RPS12
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 S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same protein. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 19q13.1-q13.2

Sequence :: Chromosome: 19; NC_000019.9 (39421348..39423660)

See MRPS12 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
NF-Y type CCAAT boxes are found preferentially in bidirectional Mrps12/Sarsm promoters, but many such promoters lack them and must be regulated in another way.
Title: NF-Y influences directionality of transcription from the bidirectional Mrps12/Sarsm promoter in both mouse and human cells.
mitochondrial ribosomal protein S12 3'-UTR interacts specifically with TRAP1 (tumor necrosis factor receptor-associated protein1), hnRNPM4 (heterogeneous nuclear ribonucleoprotein M4), Hsp70 and Hsp60 (heat shock proteins 70 and 60), and alpha-tubulin
Title: cis-acting sequences and trans-acting factors in the localization of mRNA for mitochondrial ribosomal proteins.
Homo sapiens mitochondrial ribosomal protein S12
Title: Identification and characterization of over 100 mitochondrial ribosomal protein pseudogenes in the human genome.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_066930.1	NP_115955.1	SPINK7	BIND	PubMed	ECRG2 interacts with MRPS12.
O15235	Q9UKR5	C14orf1	HPRD	PubMed
O15235	Q14194	CRMP1	HPRD	PubMed
O15235	Q5T3J3	LRIF1	HPRD	PubMed
O15235	P58062	SPINK7	HPRD	PubMed
O15235	Q13432	UNC119	HPRD	PubMed
BioGRID:112098	BioGRID:116332	C14orf1	BioGRID	PubMed	Two-hybrid
BioGRID:112098	BioGRID:107790	CRMP1	BioGRID	PubMed	Two-hybrid
BioGRID:112098	BioGRID:120905	LRIF1	BioGRID	PubMed	Two-hybrid
BioGRID:112098	BioGRID:124174	SPINK7	BioGRID	PubMed	Two-hybrid
BioGRID:112098	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:112098	BioGRID:114548	UNC119	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Ribosome, organism-specific biosystem (from KEGG)
Ribosome, organism-specific biosystem
Ribosome
Ribosome, conserved biosystem (from KEGG)
Ribosome, conserved biosystem
Ribosome

General gene information

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Markers

RH39132 (e-PCR)
- UniSTS:91666

MRPS12_1782 (e-PCR)
- UniSTS:280857

RH15855 (e-PCR)
- UniSTS:15447

MRPS12 (e-PCR)
- UniSTS:504421

Homology

Homologs of the MRPS12 gene: The MRPS12 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, and C.elegans.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
structural constituent of ribosome	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
mitochondrial ribosome	TAS Traceable Author Statement more info	PubMed
small ribosomal subunit	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 28S ribosomal protein S12, mitochondrial

Names: 28S ribosomal protein S12, mitochondrial; S12mt; MRP-S12

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.

Genomic

NG_029222.1 RefSeqGene

Range

5001..7313

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_021107.1 → NP_066930.1 28S ribosomal protein S12, mitochondrial precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longest transcript, when the polyA tail is excluded. Variants 1, 2, and 3 encode the same isoform.

Source sequence(s)

Y11681

Consensus CDS

CCDS12525.1

UniProtKB/Swiss-Prot

O15235

Related

ENSP00000384952, OTTHUMP00000269892, ENST00000407800, OTTHUMT00000463154

Conserved Domains (1) summary

cd03368
Location:32 – 138
Blast Score: 371

Ribosomal_S12; S12-like family, 30S ribosomal protein S12 subfamily; S12 is located at the interface of the large and small ribosomal subunits of prokaryotes, chloroplasts and mitochondria, where it plays an important role in both tRNA and ribosomal subunit ...
NM_033362.3 → NP_203526.1 28S ribosomal protein S12, mitochondrial precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform.

Source sequence(s)

AC011455, BC007499

Consensus CDS

CCDS12525.1

UniProtKB/Swiss-Prot

O15235

Related

ENSP00000308845, OTTHUMP00000269891, ENST00000308018, OTTHUMT00000463152

Conserved Domains (1) summary

cd03368
Location:32 – 138
Blast Score: 371

Ribosomal_S12; S12-like family, 30S ribosomal protein S12 subfamily; S12 is located at the interface of the large and small ribosomal subunits of prokaryotes, chloroplasts and mitochondria, where it plays an important role in both tRNA and ribosomal subunit ...
NM_033363.1 → NP_203527.1 28S ribosomal protein S12, mitochondrial precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains a shorter 5' UTR when compared to variant 1. Variants 1, 2, and 3 encode the same isoform.

Source sequence(s)

AC011455, BC001617

Consensus CDS

CCDS12525.1

UniProtKB/Swiss-Prot

O15235

Related

ENSP00000384579, OTTHUMP00000269894, ENST00000402029, OTTHUMT00000463156

Conserved Domains (1) summary

cd03368
Location:32 – 138
Blast Score: 371

Ribosomal_S12; S12-like family, 30S ribosomal protein S12 subfamily; S12 is located at the interface of the large and small ribosomal subunits of prokaryotes, chloroplasts and mitochondria, where it plays an important role in both tRNA and ribosomal subunit ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p10 Primary Assembly

Range

39421348..39423660

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

35867947..35870259

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018930.1 Alternate CHM1_1.0

Range

39571047..39573359

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01040710.1 (7010..9322)	None
genomic	AC011455.6 (83866..86178)	None
genomic	AF058761.1	AAC64704.1
genomic	AMYH01009789.1 (79130..81442)	None
genomic	CH471126.1	EAW56849.1
		EAW56850.1
		EAW56851.1
		EAW56852.1
mRNA	AI168197.1	None
mRNA	BC001617.1	AAH01617.1
mRNA	BC006424.1	AAH06424.1
mRNA	BC007499.2	AAH07499.1
mRNA	CR407609.1	CAG28537.1
mRNA	Y11681.1	CAA72377.1