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    MRPL18 mitochondrial ribosomal protein L18 [ Homo sapiens (human) ]

    Gene ID: 29074, updated on 5-May-2024

    Summary

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    Official Symbol
    MRPL18provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L18provided by HGNC
    Primary source
    HGNC:HGNC:14477
    See related
    Ensembl:ENSG00000112110 MIM:611831; AllianceGenome:HGNC:14477
    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
    L18mt; uL18m; HSPC071; MRP-L18
    Summary
    This nuclear gene encodes a protein component of the larger 39S subunit of mitochondrial ribosome. This protein may also aid in the import of nuclear-encoded 5S rRNA into mitochondria. Alternative splicing results in multiple transcript variants, most of which are not predicted to encode a protein. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in testis (RPKM 18.5), colon (RPKM 17.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6q25.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (159789812..159798429)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (161035444..161044045)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (160210844..160219461)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:160209832-160210496 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:160210497-160211160 Neighboring gene small nucleolar RNA, H/ACA box 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25393 Neighboring gene t-complex 1 Neighboring gene small nucleolar RNA, H/ACA box 29 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160215999-160216870 Neighboring gene PARN like ribonuclease domain containing exonuclease 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:160240240-160240966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160242614-160243420 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:160251537-160252270 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:160296296-160296948 Neighboring gene MAS1 proto-oncogene, G protein-coupled receptor

    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. Biological significance of 5S rRNA import into human mitochondria: role of ribosomal protein MRP-L18. Smirnov A, et al. Genes Dev, 2011 Jun 15. PMID 21685364, Free PMC Article
    2. Apoptosis Inducing Factor Binding Protein PGAM5 Triggers Mitophagic Cell Death That Is Inhibited by the Ubiquitin Ligase Activity of X-Linked Inhibitor of Apoptosis. Lenhausen AM, et al. Biochemistry, 2016 Jun 14. PMID 27218139
    3. 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
    4. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. Koc EC, et al. J Biol Chem, 2001 Nov 23. PMID 11551941
    5. 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

    See all (56) 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5S rRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 5S rRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 rRNA import into mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space HDA PubMed 
    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 mitochondrial ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein uL18m
    Names
    39S ribosomal protein L18, mitochondrial
    mitochondrial large ribosomal subunit protein uL18m

    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_001318817.2 → NP_001305746.1  large ribosomal subunit protein uL18m isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter, distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC001623, BG548185
      UniProtKB/Swiss-Prot
      Q9H0U6
      Conserved Domains (1) summary
      cd00432
      Location:68 → 109
      Ribosomal_L18_L5e; Ribosomal L18/L5e: L18 (L5e) is a ribosomal protein found in the central protuberance (CP) of the large subunit. L18 binds 5S rRNA and induces a conformational change that stimulates the binding of L5 to 5S rRNA. Association of 5S rRNA with 23S rRNA ...

    2. NM_014161.5 → NP_054880.2  large ribosomal subunit protein uL18m isoform 1

      See identical proteins and their annotated locations for NP_054880.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF161556, BC001623, BU932963
      Consensus CDS
      CCDS5270.1
      UniProtKB/Swiss-Prot
      Q5TAP9, Q9H0U6, Q9NZW8
      UniProtKB/TrEMBL
      A8K9D2
      Related
      ENSP00000356001.4, ENST00000367034.5
      Conserved Domains (1) summary
      cd00432
      Location:68 → 170
      Ribosomal_L18_L5e; Ribosomal L18/L5e: L18 (L5e) is a ribosomal protein found in the central protuberance (CP) of the large subunit. L18 binds 5S rRNA and induces a conformational change that stimulates the binding of L5 to 5S rRNA. Association of 5S rRNA with 23S rRNA ...

    RNA

    1. NR_134860.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon and contains two alternate exons in the 5' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AK311391, AL135914, BC001623, BU943173

    2. NR_134861.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' terminal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL135914, BC001623, BM924328
      Related
      ENST00000480842.1

    3. NR_134862.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      BC001623, BU601065, BU943173

    4. NR_134863.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal exon and uses an alternate splice site in the 5' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      BC001623, BU943173, CD675657

    5. NR_134864.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate 5' terminal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      BC001623, BF797811
      Related
      ENST00000476826.5

    6. NR_134865.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains an alternate 5' terminal exon and uses an alternate splice site in the 3' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AV756740, BC001623, BU943173, CA777760

    7. NR_134866.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) contains an alternate 5' terminal exon and uses an alternate splice site in the 3' region compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      BC001623, BU943173, CA777760

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      159789812..159798429
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      161035444..161044045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0U6.1 GenPept UniProtKB/Swiss-Prot:Q9H0U6

    Gene LinkOut

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

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