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    MRPS14 mitochondrial ribosomal protein S14 [ Homo sapiens (human) ]

    Gene ID: 63931, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MRPS14provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein S14provided by HGNC
    Primary source
    HGNC:HGNC:14049
    See related
    Ensembl:ENSG00000120333 MIM:611978; AllianceGenome:HGNC:14049
    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
    S14mt; uS14m; COXPD38; MRP-S14; HSMRPS14; DJ262D12.2
    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 S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in brain (RPKM 14.6), thyroid (RPKM 14.5) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See MRPS14 in Genome Data Viewer
    Location:
    1q25.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (175012958..175023425, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (174366714..174377180, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (174982094..174992561, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:174968357-174968892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1566 Neighboring gene RNA, U6 small nuclear 307, pseudogene Neighboring gene calcyclin binding protein Neighboring gene MPRA-validated peak469 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:175012695-175013230 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:175013231-175013766 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:175023596-175024795 Neighboring gene ENTR1 pseudogene 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:175036290-175037489 Neighboring gene tenascin N Neighboring gene MPRA-validated peak471 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:175098412-175099320 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:175099321-175100227

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Jackson CB, et al. Hum Mol Genet, 2019 Feb 15. PMID 30358850
    2. A proteomics approach to the identification of mammalian mitochondrial small subunit ribosomal proteins. Koc EC, et al. J Biol Chem, 2000 Oct 20. PMID 10938081
    3. Identification of the BRD1 interaction network and its impact on mental disorder risk. Fryland T, et al. Genome Med, 2016 May 3. PMID 27142060, Free PMC Article
    4. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Kenmochi N, et al. Genomics, 2001 Sep. PMID 11543634
    5. Herpesvirus deconjugases inhibit the IFN response by promoting TRIM25 autoubiquitination and functional inactivation of the RIG-I signalosome. Gupta S, et al. PLoS Pathog, 2018 Jan. PMID 29357390, Free PMC Article

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. our data demonstrate pathogenic mutations in MRPS14 can manifest as a perinatal-onset mitochondrial hypertrophic cardiomyopathy with a novel molecular pathogenic mechanism that impairs the function of mitochondrial ribosomes during translation elongation or mitochondrial mRNA recruitment rather than assembly.
      Title: A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 38
    MedGen: C5193064 OMIM: 618378 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translation IMP
    Inferred from Mutant Phenotype
    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
    		  
    involved_in translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of mitochondrial small ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial small ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial small ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    small ribosomal subunit protein uS14m
    Names
    28S ribosomal protein S14, mitochondrial
    mitochondrial 28S ribosomal protein S14
    mitochondrial small ribosomal subunit protein uS14m
    NP_071383.1

    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.

    mRNA and Protein(s)

    1. NM_022100.3 → NP_071383.1  small ribosomal subunit protein uS14m

      See identical proteins and their annotated locations for NP_071383.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the functional protein.
      Source sequence(s)
      AI086885, AL049705, BE882322, DA610441
      Consensus CDS
      CCDS1316.1
      UniProtKB/Swiss-Prot
      O60783, Q5R358
      UniProtKB/TrEMBL
      B2R4A5
      Related
      ENSP00000420714.1, ENST00000476371.1
      Conserved Domains (1) summary
      pfam00253
      Location:74 → 126
      Ribosomal_S14; Ribosomal protein S14p/S29e

    RNA

    1. NR_037606.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI086885, AK310915, AL049705, BE882322, DA610441

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      175012958..175023425 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      174366714..174377180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60783.1 GenPept UniProtKB/Swiss-Prot:O60783

    Gene LinkOut

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