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

Summary

Official Symbol: MRPS12provided by HGNC
Official Full Name: mitochondrial ribosomal protein S12provided by HGNC
Primary source: HGNC:HGNC:10380
See related: Ensembl:ENSG00000128626 MIM:603021; AllianceGenome:HGNC:10380
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; uS12m; 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]
Expression: Ubiquitous expression in kidney (RPKM 9.2), colon (RPKM 7.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (38930944..38933168)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (41734913..41737137)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (39421584..39423808)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel biomarker, MRPS12 functions as a potential oncogene in ovarian cancer and is a promising prognostic candidate.
Title: A novel biomarker, MRPS12 functions as a potential oncogene in ovarian cancer and is a promising prognostic candidate.
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.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of mitochondrial ribosomal protein S12 (MRPS12) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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

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	IBA Inferred from Biological aspect of Ancestor more info

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
located_in mitochondrial ribosome	TAS Traceable Author Statement more info	PubMed
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
is_active_in ribosome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: small ribosomal subunit protein uS12m

Names: 28S ribosomal protein S12, mitochondrial; MRP-S12; S12mt; mitochondrial small ribosomal subunit protein uS12m

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

5237..7461

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_021107.1 → NP_066930.1 small ribosomal subunit protein uS12m precursor

See identical proteins and their annotated locations for NP_066930.1

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, Q53X98

Related

ENSP00000384952.1, ENST00000407800.2

Conserved Domains (1) summary

cd03368
Location:32 → 138

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_033362.4 → NP_203526.1 small ribosomal subunit protein uS12m precursor

See identical proteins and their annotated locations for NP_203526.1

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, Q53X98

Related

ENSP00000308845.3, ENST00000308018.9

Conserved Domains (1) summary

cd03368
Location:32 → 138

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 small ribosomal subunit protein uS12m precursor

See identical proteins and their annotated locations for NP_203527.1

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, Q53X98

Related

ENSP00000384579.2, ENST00000402029.3

Conserved Domains (1) summary

cd03368
Location:32 → 138

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 ...