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

Gene ID: 6183, updated on 1-Jun-2020

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
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]
Expression
Ubiquitous expression in kidney (RPKM 9.2), colon (RPKM 7.6) and 25 other tissues See more
Orthologs

Genomic context

See MRPS12 in Genome Data Viewer
Location:
19q13.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (38930944..38933168)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39421348..39423660)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NFKB inhibitor beta Neighboring gene coiled-coil glutamate rich protein 2 Neighboring gene seryl-tRNA synthetase 2, mitochondrial Neighboring gene F-box protein 17 Neighboring gene F-box protein 27

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?

HIV-1 interactions

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

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
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
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 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial ribosome TAS
Traceable Author Statement
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 
ribosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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.

Genomic

  1. NG_029222.1 RefSeqGene

    Range
    5001..7313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021107.1NP_066930.1  28S ribosomal protein S12, mitochondrial 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
    UniProtKB/TrEMBL
    A0A024R0H2
    Related
    ENSP00000384952.1, ENST00000407800.2
    Conserved Domains (1) summary
    cd03368
    Location:32138
    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 ...
  2. NM_033362.4NP_203526.1  28S ribosomal protein S12, mitochondrial 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
    UniProtKB/TrEMBL
    A0A024R0H2
    Related
    ENSP00000308845.3, ENST00000308018.8
    Conserved Domains (1) summary
    cd03368
    Location:32138
    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 ...
  3. NM_033363.1NP_203527.1  28S ribosomal protein S12, mitochondrial 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
    UniProtKB/TrEMBL
    A0A024R0H2
    Related
    ENSP00000384579.2, ENST00000402029.3
    Conserved Domains (1) summary
    cd03368
    Location:32138
    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 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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    38930944..38933168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_014040929.1 Reference GRCh38.p13 PATCHES

    Range
    340616..342840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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