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    TRMU tRNA mitochondrial 2-thiouridylase [ Homo sapiens (human) ]

    Gene ID: 55687, updated on 19-Jun-2021

    Summary

    Official Symbol
    TRMUprovided by HGNC
    Official Full Name
    tRNA mitochondrial 2-thiouridylaseprovided by HGNC
    Primary source
    HGNC:HGNC:25481
    See related
    Ensembl:ENSG00000100416 MIM:610230
    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
    MTO2; MTU1; TRMT; LCAL3; TRMT1
    Summary
    This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Expression
    Ubiquitous expression in spleen (RPKM 4.2), skin (RPKM 3.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See TRMU in Genome Data Viewer
    Location:
    22q13.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (46335714..46357340)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46731611..46753237)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 38 Neighboring gene GTSE1 divergent transcript Neighboring gene G2 and S-phase expressed 1 Neighboring gene cadherin EGF LAG seven-pass G-type receptor 1 Neighboring gene family with sequence similarity 136 member A pseudogene Neighboring gene VISTA enhancer hs1924 Neighboring gene uncharacterized LOC105373075

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC99627

    Gene Ontology Provided by GOA

    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 wobble position uridine thiolation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    mitochondrial tRNA-specific 2-thiouridylase 1
    Names
    MTO2 homolog
    lung cancer associated lncRNA 3
    mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase
    tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
    NP_001269711.1
    NP_001269712.1
    NP_001269713.1
    NP_001269714.1
    NP_060476.2
    XP_005261735.1
    XP_005261738.1
    XP_011528573.1
    XP_011528574.1
    XP_011528575.1
    XP_011528576.1
    XP_011528577.1
    XP_024308028.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_012173.1 RefSeqGene

      Range
      5314..26940
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282782.2NP_001269711.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform d

      See identical proteins and their annotated locations for NP_001269711.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      BC066593, DQ309999
      UniProtKB/TrEMBL
      Q2PPL5
      Conserved Domains (1) summary
      cd01998
      Location:5269
      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. NM_001282783.2NP_001269712.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform e

      See identical proteins and their annotated locations for NP_001269712.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains multiple differences in the coding region, including initiation of translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) is shorter than isoform a.
      Source sequence(s)
      AL031588, AY062123, BC027991, BC066593
      UniProtKB/Swiss-Prot
      O75648
      Conserved Domains (1) summary
      cd01998
      Location:37243
      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. ...
    3. NM_001282784.2NP_001269713.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains multiple differences in the coding region, including initiation of translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (f) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AL031588, AY062123, BC066593, DQ310000
      UniProtKB/Swiss-Prot
      O75648
      UniProtKB/TrEMBL
      Q2PPL4
      Conserved Domains (1) summary
      cl00292
      Location:37204
      AANH_like; Adenine nucleotide alpha hydrolases superfamily including N type ATP PPases, ATP sulphurylases Universal Stress Response protein and electron transfer flavoprotein (ETF). The domain forms a apha/beta/apha fold which binds to Adenosine nucleotide.
    4. NM_001282785.2NP_001269714.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform g

      See identical proteins and their annotated locations for NP_001269714.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (g) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AY062123, BC066593, CR456445
      Consensus CDS
      CCDS63510.1
      UniProtKB/Swiss-Prot
      O75648
      Related
      ENSP00000370407.3, ENST00000381019.3
      Conserved Domains (2) summary
      cd01998
      Location:6344
      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:5344
      tRNA_Me_trans; tRNA methyl transferase
    5. NM_018006.5NP_060476.2  mitochondrial tRNA-specific 2-thiouridylase 1 isoform a

      See identical proteins and their annotated locations for NP_060476.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AY062123, BC066593
      Consensus CDS
      CCDS14075.1
      UniProtKB/Swiss-Prot
      O75648
      Related
      ENSP00000496496.1, ENST00000645190.1
      Conserved Domains (2) summary
      cd01998
      Location:6383
      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:5383
      tRNA_Me_trans; tRNA methyl transferase

    RNA

    1. NR_104240.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site at an internal 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)
      AK000212, AK001002, BC066593, CN365141
      Related
      ENST00000457572.5
    2. NR_104241.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon and uses an alternate splice site at an internal 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)
      BC066593, DQ309998
      Related
      ENST00000453630.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      46335714..46357340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261678.1XP_005261735.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X6

      See identical proteins and their annotated locations for XP_005261735.1

      Conserved Domains (1) summary
      cd01998
      Location:45251
      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_005261681.1XP_005261738.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X7

      Conserved Domains (1) summary
      cl00292
      Location:45212
      AANH_like; Adenine nucleotide alpha hydrolases superfamily including N type ATP PPases, ATP sulphurylases Universal Stress Response protein and electron transfer flavoprotein (ETF). The domain forms a apha/beta/apha fold which binds to Adenosine nucleotide.
    3. XM_011530272.2XP_011528574.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X2

      Conserved Domains (1) summary
      cd01998
      Location:6258
      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. ...
    4. XM_011530273.2XP_011528575.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X3

      Conserved Domains (1) summary
      cd01998
      Location:6258
      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. ...
    5. XM_011530271.2XP_011528573.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X1

      Related
      ENSP00000494255.1, ENST00000642923.1
      Conserved Domains (2) summary
      cd01998
      Location:1348
      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:1348
      tRNA_Me_trans; tRNA methyl transferase
    6. XM_024452260.1XP_024308028.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X4

      Conserved Domains (2) summary
      cl27975
      Location:224331
      EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
      cl28063
      Location:1223
      tRNA_Me_trans; tRNA methyl transferase
    7. XM_011530274.2XP_011528576.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X5

      See identical proteins and their annotated locations for XP_011528576.1

      Conserved Domains (1) summary
      cd01998
      Location:5269
      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. ...
    8. XM_011530275.1XP_011528577.1  mitochondrial tRNA-specific 2-thiouridylase 1 isoform X6

      See identical proteins and their annotated locations for XP_011528577.1

      Conserved Domains (1) summary
      cd01998
      Location:45251
      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. ...

    RNA

    1. XR_001755261.2 RNA Sequence

    2. XR_001755262.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008569.2: Suppressed sequence

      Description
      NM_001008569.2: This RefSeq was permanently suppressed because it is based on DQ309999 which is a nonsense-mediated mRNA decay (NMD) candidate and the related publication with PMID 16513084 does not provide functional evidence.
    2. NM_001008571.2: Suppressed sequence

      Description
      NM_001008571.2: This RefSeq was permanently suppressed because it is based on BC027991.1 which is a nonsense-mediated mRNA decay (NMD) candidate.
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