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MRPL34 mitochondrial ribosomal protein L34 [ Homo sapiens (human) ]

Gene ID: 64981, updated on 5-Mar-2024

Summary

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Official Symbol
MRPL34provided by HGNC
Official Full Name
mitochondrial ribosomal protein L34provided by HGNC
Primary source
HGNC:HGNC:14488
See related
Ensembl:ENSG00000130312 MIM:611840; AllianceGenome:HGNC:14488
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
L34mt; bL34m
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 39S subunit protein. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 30.6), duodenum (RPKM 18.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
19p13.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17292573..17306843)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17427458..17441733)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17403382..17417652)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:17378029-17378740 Neighboring gene BRISC and BRCA1 A complex member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10333 Neighboring gene ankyrin repeat and LEM domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17404714-17405262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17405263-17405811 Neighboring gene abhydrolase domain containing 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17411770-17412270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17412271-17412771 Neighboring gene Sharpr-MPRA regulatory region 8409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17419675-17420236 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17420237-17420800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17423026-17423526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17423527-17424027 Neighboring gene DET1 and DDB1 associated 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17432165-17432781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17435160-17435660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17437105-17437632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17438162-17438689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17438690-17439218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17439219-17439746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17439747-17440274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17440275-17440802 Neighboring gene anoctamin 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:17447331-17448002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17448003-17448674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17448675-17449346 Neighboring gene GTP binding protein 3, mitochondrial

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. Identification of mammalian mitochondrial ribosomal proteins (MRPs) by N-terminal sequencing of purified bovine MRPs and comparison to data bank sequences: the large subribosomal particle. Graack HR, et al. Biochemistry, 1999 Dec 14. PMID 10600119
  2. USP15 Enhances Re-epithelialization Through Deubiquitinating EIF4A1 During Cutaneous Wound Repair. Zhao Y, et al. Front Cell Dev Biol, 2020. PMID 32671073, Free PMC Article
  3. 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
  4. Structural compensation for the deficit of rRNA with proteins in the mammalian mitochondrial ribosome. Systematic analysis of protein components of the large ribosomal subunit from mammalian mitochondria. Suzuki T, et al. J Biol Chem, 2001 Jun 15. PMID 11279069
  5. Structures of the human mitochondrial ribosome in native states of assembly. Brown A, et al. Nat Struct Mol Biol, 2017 Oct. PMID 28892042, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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

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

  • MGC2633, MGC24974

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables structural constituent of ribosome NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial translation NAS
Non-traceable Author Statement
more info
 PubMed 
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
  
part_of mitochondrial large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial large ribosomal subunit NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial ribosome NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
large ribosomal subunit protein bL34m
Names
39S ribosomal protein L34, mitochondrial
MRP-L34
mitochondrial large ribosomal subunit protein bL34m

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_001382342.1 → NP_001369271.1  large ribosomal subunit protein bL34m isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 all encode the same protein.
    Source sequence(s)
    AC010463
    Consensus CDS
    CCDS12356.1
    UniProtKB/Swiss-Prot
    Q9BQ48
    Related
    ENSP00000471820.1, ENST00000594999.1
    Conserved Domains (1) summary
    pfam00468
    Location:50 → 91
    Ribosomal_L34; Ribosomal protein L34

  2. NM_001382343.1 → NP_001369272.1  large ribosomal subunit protein bL34m isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010463
    Consensus CDS
    CCDS12356.1
    UniProtKB/Swiss-Prot
    Q9BQ48
    Conserved Domains (1) summary
    pfam00468
    Location:50 → 91
    Ribosomal_L34; Ribosomal protein L34

  3. NM_001400072.1 → NP_001387001.1  large ribosomal subunit protein bL34m isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010463
    Consensus CDS
    CCDS12356.1
    UniProtKB/Swiss-Prot
    Q9BQ48

  4. NM_001400073.1 → NP_001387002.1  large ribosomal subunit protein bL34m isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010463
    Consensus CDS
    CCDS12356.1
    UniProtKB/Swiss-Prot
    Q9BQ48
    Related
    ENSP00000469581.1, ENST00000600434.5

  5. NM_001400074.1 → NP_001387003.1  large ribosomal subunit protein bL34m isoform b

    Status: REVIEWED

    Source sequence(s)
    AC010463
    Consensus CDS
    CCDS92555.1
    UniProtKB/TrEMBL
    M0R093
    Related
    ENSP00000471089.1, ENST00000602206.1

  6. NM_023937.4 → NP_076426.1  large ribosomal subunit protein bL34m isoform a

    See identical proteins and their annotated locations for NP_076426.1

    Status: REVIEWED

    Source sequence(s)
    AC010463
    Consensus CDS
    CCDS12356.1
    UniProtKB/Swiss-Prot
    Q9BQ48
    Related
    ENSP00000252602.1, ENST00000252602.2
    Conserved Domains (1) summary
    pfam00468
    Location:50 → 91
    Ribosomal_L34; Ribosomal protein L34

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
    17292573..17306843
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    17427458..17441733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BQ48.1 GenPept UniProtKB/Swiss-Prot:Q9BQ48

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