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

Gene ID: 65993, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1771895..1773134, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1787729..1788968, complement)
105.20220307 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
  • 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 (102) 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
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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 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_2023_10

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

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