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    Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 72026, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Trmuprovided by MGI
    Official Full Name
    tRNA 5-methylaminomethyl-2-thiouridylate methyltransferaseprovided by MGI
    Primary source
    MGI:MGI:1919276
    See related
    Ensembl:ENSMUSG00000022386 AllianceGenome:MGI:1919276
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mtu1; Trmt1; 1110005N20Rik; 1600025P05Rik
    Summary
    Predicted to enable ATP binding activity; tRNA binding activity; and tRNA-5-taurinomethyluridine 2-sulfurtransferase. Predicted to be involved in tRNA wobble position uridine thiolation. Located in mitochondrion. Used to study liver disease. Human ortholog(s) of this gene implicated in aminoglycoside-induced deafness; infantile liver failure syndrome; and transient infantile liver failure. Orthologous to human TRMU (tRNA mitochondrial 2-thiouridylase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 11.1), CNS E18 (RPKM 10.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Trmu in Genome Data Viewer
    Location:
    15 E2; 15 40.42 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (85763505..85781595)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (85879309..85897394)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 38 Neighboring gene STARR-seq mESC enhancer starr_39401 Neighboring gene STARR-positive B cell enhancer ABC_E4144 Neighboring gene G two S phase expressed protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E10874 Neighboring gene cadherin, EGF LAG seven-pass G-type receptor 1 Neighboring gene STARR-seq mESC enhancer starr_39409 Neighboring gene predicted gene, 34764

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mtu1 defects are correlated with reduced osteogenic differentiation. He Q, et al. Cell Death Dis, 2021 Jan 11. PMID 33431792, Free PMC Article
    2. Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase. Yan Q, et al. Biochim Biophys Acta, 2004 Jan 20. PMID 14746906
    3. Mtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver Injury. Wu Y, et al. PLoS Genet, 2016 Sep. PMID 27689697, Free PMC Article
    4. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    5. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. plays a role in mitochondrial tRNA modification pathway and the pathogenesis of mitochondrial disorders
      Title: Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA-5-taurinomethyluridine 2-sulfurtransferase IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in tRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tRNA wobble position uridine thiolation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HDA 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 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial tRNA-specific 2-thiouridylase 1
    Names
    tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase 1
    NP_082339.1
    XP_006521485.1
    XP_006521486.1
    XP_006521487.1
    XP_006521488.1
    XP_036015492.1

    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_028063.2 → NP_082339.1  mitochondrial tRNA-specific 2-thiouridylase 1

      See identical proteins and their annotated locations for NP_082339.1

      Status: VALIDATED

      Source sequence(s)
      AC139513
      Consensus CDS
      CCDS27726.1
      UniProtKB/Swiss-Prot
      Q9DAT5
      Related
      ENSMUSP00000023019.6, ENSMUST00000023019.12
      Conserved Domains (2) summary
      cd01998
      Location:6 → 383
      tRNA_Me_trans; tRNA methyl transferase. This family represents tRNA(5-methylaminomethyl-2-thiouridine)-methyltransferase which is involved in the biosynthesis of the modified nucleoside 5-methylaminomethyl-2-thiouridine present in the wobble position of some tRNAs. ...
      pfam03054
      Location:5 → 383
      tRNA_Me_trans; tRNA methyl transferase

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      85763505..85781595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521422.3 → XP_006521485.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X1

      Conserved Domains (1) summary
      cd01998
      Location:6 → 258
      tRNA_Me_trans; tRNA methyl transferase. This family represents tRNA(5-methylaminomethyl-2-thiouridine)-methyltransferase which is involved in the biosynthesis of the modified nucleoside 5-methylaminomethyl-2-thiouridine present in the wobble position of some tRNAs. ...

    2. XM_006521424.2 → XP_006521487.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X2

      Conserved Domains (1) summary
      pfam03054
      Location:5 → 269
      tRNA_Me_trans; tRNA methyl transferase

    3. XM_006521425.2 → XP_006521488.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X4

      Conserved Domains (1) summary
      pfam03054
      Location:39 → 243
      tRNA_Me_trans; tRNA methyl transferase

    4. XM_006521423.5 → XP_006521486.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X3

      Conserved Domains (1) summary
      pfam03054
      Location:71 → 275
      tRNA_Me_trans; tRNA methyl transferase

    5. XM_036159599.1 → XP_036015492.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X5

      Conserved Domains (1) summary
      pfam03054
      Location:71 → 150
      tRNA_Me_trans; tRNA methyl transferase

    RNA

    1. XR_001781567.2 RNA Sequence

    2. XR_384047.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9DAT5.1 GenPept UniProtKB/Swiss-Prot:Q9DAT5

    Gene LinkOut

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

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