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

Gene ID: 55687, updated on 2-Mar-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
109.20210226 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
ATP binding IEA
Inferred from Electronic Annotation
more info
 
sulfurtransferase activity IEA
Inferred from Electronic Annotation
more info
 
tRNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
tRNA wobble position uridine thiolation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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)

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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.

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 109.20210226

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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