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    MRPS34 mitochondrial ribosomal protein S34 [ Homo sapiens (human) ]

    Gene ID: 65993, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MRPS34provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein S34provided by HGNC
    Primary source
    HGNC:HGNC:16618
    See related
    Ensembl:ENSG00000074071 MIM:611994; AllianceGenome:HGNC:16618
    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
    mS34; MRPS12; COXPD32; MRP-S12; MRP-S34
    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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in kidney (RPKM 21.5), colon (RPKM 19.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPS34 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1771895..1773134, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1787729..1788968, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1821896..1823135, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase 8 interacting protein 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1784965-1785466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1785467-1785966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1789279-1789857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1789858-1790435 Neighboring gene microRNA 3177 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1800917-1801129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1802173-1802673 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1810494-1810664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1814128-1814842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1824057-1824845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1825681-1826181 Neighboring gene NME/NM23 nucleoside diphosphate kinase 3 Neighboring gene essential meiotic structure-specific endonuclease subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7008 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1833677-1833903 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1836968-1837136 Neighboring gene NUBP iron-sulfur cluster assembly factor 2, cytosolic

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Lake NJ, et al. Am J Hum Genet, 2017 Aug 3. PMID 28777931, Free PMC Article
    2. Binding of the human homolog of the Drosophila discs large tumor suppressor protein to the mitochondrial ribosomal protein MRP-S34. Ogawa F, et al. Biochem Biophys Res Commun, 2003 Jan 17. PMID 12507520
    3. Mammalian mitochondrial ribosomal proteins (4). Amino acid sequencing, characterization, and identification of corresponding gene sequences. O'Brien TW, et al. J Biol Chem, 2000 Jun 16. PMID 10751423
    4. 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
    5. USP15 Deubiquitinase Safeguards Hematopoiesis and Genome Integrity in Hematopoietic Stem Cells and Leukemia Cells. van den Berk P, et al. Cell Rep, 2020 Dec 29. PMID 33378683, Free PMC Article

    See all (119) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MRPS34 is required for normal function of the mitoribosome and energy-generating mitochondrial OXPHOS system in humans.
      Title: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
    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 32
    MedGen: C4540029 OMIM: 617664 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)

    Genotypes

    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

    Clone Names

    • MGC2616

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial translation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial 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
    		  
    part_of mitochondrial small ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial small ribosomal subunit ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    small ribosomal subunit protein mS34
    Names
    28S ribosomal protein S34, mitochondrial
    S34mt
    mitochondrial 28S ribosomal protein S34
    mitochondrial small ribosomal subunit protein mS34

    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_001300900.2 → NP_001287829.1  small ribosomal subunit protein mS34 isoform 1

      See identical proteins and their annotated locations for NP_001287829.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC012180, AV709743, BC001182
      Consensus CDS
      CCDS73805.1
      UniProtKB/TrEMBL
      C9JJ19
      Related
      ENSP00000177742.3, ENST00000177742.7
      Conserved Domains (1) summary
      pfam16053
      Location:74 → 194
      MRP-S34; Mitochondrial 28S ribosomal protein S34

    2. NM_023936.2 → NP_076425.1  small ribosomal subunit protein mS34 isoform 2

      See identical proteins and their annotated locations for NP_076425.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      BC001182
      Consensus CDS
      CCDS10444.1
      UniProtKB/Swiss-Prot
      P82930, Q9BVI7
      Related
      ENSP00000380531.3, ENST00000397375.7
      Conserved Domains (1) summary
      pfam16053
      Location:74 → 187
      MRP-S34; Mitochondrial 28S ribosomal protein S34

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      1771895..1773134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      1787729..1788968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P82930.2 GenPept UniProtKB/Swiss-Prot:P82930

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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