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    MRPL4 mitochondrial ribosomal protein L4 [ Homo sapiens (human) ]

    Gene ID: 51073, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MRPL4provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L4provided by HGNC
    Primary source
    HGNC:HGNC:14276
    See related
    Ensembl:ENSG00000105364 MIM:611823; AllianceGenome:HGNC:14276
    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
    L4mt; uL4m; CGI-28
    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. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 9.6), fat (RPKM 9.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL4 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10251951..10260055)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10378061..10386165)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10362627..10370731)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 10 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10330242-10330742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10330743-10331243 Neighboring gene sphingosine-1-phosphate receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10340651-10341365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13946 Neighboring gene microRNA 4322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13947 Neighboring gene Sharpr-MPRA regulatory region 3154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10060 Neighboring gene H3K27ac hESC enhancers GRCh37_chr19:10362245-10362818 and GRCh37_chr19:10362819-10363392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13951 Neighboring gene lncRNA inflammatory and mucous response associated, antisense to ICAM1 Neighboring gene Sharpr-MPRA regulatory region 14536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13953 Neighboring gene intercellular adhesion molecule 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10397303-10398272 Neighboring gene ICAM4 antisense RNA 1 Neighboring gene intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)

    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. The association between polymorphisms in the MRPL4 and TNF-α genes and susceptibility to allergic rhinitis. Wei X, et al. PLoS One, 2013. PMID 23472126, Free PMC Article
    2. MIEF1 Microprotein Regulates Mitochondrial Translation. Rathore A, et al. Biochemistry, 2018 Sep 25. PMID 30215512, Free PMC Article
    3. Cytosolic Iron-Sulfur Assembly Is Evolutionarily Tuned by a Cancer-Amplified Ubiquitin Ligase. Weon JL, et al. Mol Cell, 2018 Jan 4. PMID 29225034
    4. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article
    5. p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. Yagi M, et al. Nucleic Acids Res, 2012 Oct. PMID 22904065, Free PMC Article

    See all (97) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. there is a strong association between allergic rhinitis risk and polymorphisms of MRPL4 and TNF-alpha genes in the Han Chinese population
      Title: The association between polymorphisms in the MRPL4 and TNF-α genes and susceptibility to allergic rhinitis.
    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

    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

    • MGC2681, MGC16367

    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
    		  
    Process Evidence Code Pubs
    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 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 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 uL4m
    Names
    39S ribosomal protein L4, mitochondrial
    MRP-L4
    mitochondrial large ribosomal subunit protein uL4m
    NP_001398078.1
    NP_057040.2
    NP_666499.1
    NP_666500.1

    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_001411149.1 → NP_001398078.1  large ribosomal subunit protein uL4m isoform c

      Status: REVIEWED

      Source sequence(s)
      AC011511
      Consensus CDS
      CCDS92511.1
      UniProtKB/TrEMBL
      X6RAY8
      Related
      ENSP00000377334.2, ENST00000393733.6

    2. NM_015956.3 → NP_057040.2  large ribosomal subunit protein uL4m isoform a

      See identical proteins and their annotated locations for NP_057040.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript and it encodes the same isoform (a) as variant 2.
      Source sequence(s)
      AC011511, BC009858, BG325905
      Consensus CDS
      CCDS12230.1
      UniProtKB/Swiss-Prot
      A6NNV7, Q9BW07, Q9BYD3, Q9H4N2, Q9Y317
      UniProtKB/TrEMBL
      K7ES61
      Related
      ENSP00000253099.5, ENST00000253099.11
      Conserved Domains (1) summary
      pfam00573
      Location:81 → 272
      Ribosomal_L4; Ribosomal protein L4/L1 family

    3. NM_146387.2 → NP_666499.1  large ribosomal subunit protein uL4m isoform a

      See identical proteins and their annotated locations for NP_666499.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC011511, BC009858, BG758801
      Consensus CDS
      CCDS12230.1
      UniProtKB/Swiss-Prot
      A6NNV7, Q9BW07, Q9BYD3, Q9H4N2, Q9Y317
      UniProtKB/TrEMBL
      K7ES61
      Related
      ENSP00000306902.5, ENST00000307422.9
      Conserved Domains (1) summary
      pfam00573
      Location:81 → 272
      Ribosomal_L4; Ribosomal protein L4/L1 family

    4. NM_146388.2 → NP_666500.1  large ribosomal subunit protein uL4m isoform b

      See identical proteins and their annotated locations for NP_666500.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes an isoform (b) which has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC011511
      Consensus CDS
      CCDS42499.1
      UniProtKB/TrEMBL
      K7ES61
      Related
      ENSP00000465143.1, ENST00000590669.5
      Conserved Domains (1) summary
      pfam00573
      Location:81 → 247
      Ribosomal_L4; Ribosomal protein L4/L1 family

    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
      10251951..10260055
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      10378061..10386165
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYD3.1 GenPept UniProtKB/Swiss-Prot:Q9BYD3

    Gene LinkOut

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

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