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

    Gene ID: 64981, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See MRPL34 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17292573..17306843)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17427458..17441733)
    RS_2024_09 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 (30) 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)

    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 HTP 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_2024_08

    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

    Gene LinkOut

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

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