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

    Gene ID: 6183, updated on 17-Jun-2024

    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
    NEW
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    Genomic context

    See MRPS12 in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39402426-39403052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39403053-39403677 Neighboring gene coiled-coil glutamate rich protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39408779-39409649 Neighboring gene seryl-tRNA synthetase 2, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14604 Neighboring gene uncharacterized LOC124904713 Neighboring gene F-box protein 17 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10590 Neighboring gene Sharpr-MPRA regulatory region 3914 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:39460743-39460953

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA 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

    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)

    NEW Try the new Transcript table

    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
      5237..7461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021107.1NP_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: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  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: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  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: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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_014040929.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41734913..41737137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)