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TRMU Gene

protein-coding   GIFtS: 57
GCID: GC22P046726

TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase

(Previous name: tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase...)
(Previous symbol: TRMT)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase1 2     TRNT12 5
TRMT1 2     TRNA (5-Methylaminomethyl-2-Thiouridylate)-Methyltransferase1
MTU12 3     Mitochondrial 5-Methylaminomethyl-2-Thiouridylate-Methyltransferase2
TRMT12 3     Mitochondrial TRNA-Specific 2-Thiouridylase 12
MTO2 Homolog2 3     EC 2.8.1.-3
MTO22 5     EC 2.8.18

External Ids:    HGNC: 254811   Entrez Gene: 556872   Ensembl: ENSG000001004167   OMIM: 6102305   UniProtKB: O756483   
ORGUL members:         

Export aliases for TRMU gene to outside databases

Previous GC identifers: GC22P045053 GC22P045109 GC22P029675


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TRMU Gene:
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)

GeneCards Summary for TRMU Gene:
TRMU (tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase) is a protein-coding gene. Diseases associated with TRMU include liver failure acute infantile, and melas, mt-th-related. GO annotations related to this gene include tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity and tRNA binding.

UniProtKB/Swiss-Prot: MTU1_HUMAN, O75648
Function: Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu)
and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys),
tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base

Gene Wiki entry for TRMU Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the TRMU gene promoter:
         USF1   MEF-2   MIF-1   Max   E2F-1   E2F   COMP1   USF-1   aMEF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTRMU promoter sequence
   Search Chromatin IP Primers for TRMU

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TRMU


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13

TRMU Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRMU gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P046726:  view genomic region     (about GC identifiers)

Start:
46,726,772 bp from pter      End:
46,753,237 bp from pter
Size:
26,466 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MTU1_HUMAN, O75648 (See protein sequence)
Recommended Name: Mitochondrial tRNA-specific 2-thiouridylase 1  
Size: 421 amino acids; 47745 Da
Miscellaneous: During the reaction, ATP is used to activate the C2 atom of U34 by adenylation. After this, the
persulfide sulfur on the catalytic cysteine is transferred to the C2 atom of the wobble base (U34) of
mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). The reaction probably involves hydrogen sulfide that is
generated from the persulfide intermediate and that acts as nucleophile towards the activated C2 atom on U34.
Subsequently, a transient disulfide bond is formed between the two active site cysteine residues (By similarity)
Caution: Was originally (PubMed:16513084) thought to be a 5-methylaminomethyl-2-methyltransferase involved in tRNA
modification
Secondary accessions: A8K3U7 Q05C99 Q5W9C8 Q66K31 Q6ICC3 Q9NWC1
Alternative splicing: 5 isoforms:  O75648-1   O75648-2   O75648-3   O75648-4   O75648-5   (Ref.7 (AAH80631) sequence is in conflict in position: 14:K->N)

Explore the universe of human proteins at neXtProt for TRMU: NX_O75648

Explore proteomics data for TRMU at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TRMU (O75648) (see all 13)
     IATGHYA  CNKHIKF  KDQTFFL  GVFMKNW 


    See TRMU Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001269711.1  NP_001269712.1  NP_001269713.1  NP_001269714.1  NP_060476.2  

    ENSEMBL proteins: 
     ENSP00000393014   ENSP00000413880   ENSP00000370409   ENSP00000398488   ENSP00000407700  
     ENSP00000290846   ENSP00000370407   ENSP00000406038  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR023382 Adenine_a_hdrlase_dom
     IPR004506 tRNA-specific_2-thiouridylase
     IPR014729 Rossmann-like_a/b/a_fold

    Graphical View of Domain Structure for InterPro Entry O75648

    ProtoNet protein and cluster: O75648

    1 Blocks protein domain: IPB004506 tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase

    UniProtKB/Swiss-Prot: MTU1_HUMAN, O75648
    Similarity: Belongs to the MnmA/TRMU family


    TRMU for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTU1_HUMAN, O75648
    Function: Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu)
    and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys),
    tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base

         Enzyme Numbers (IUBMB): EC 2.8.12 EC 2.8.1.-1

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding IEA--
    GO:0004066asparagine synthase (glutamine-hydrolyzing) activity ----
    GO:0004808tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity ----
    GO:0005524ATP binding IEA--
    GO:0008168methyltransferase activity ----
         
    TRMU for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TRMU:
     Decreased TP53 protein express  Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TRMU
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    miRTarBase miRNAs that target TRMU:
    hsa-mir-16-5p (MIRT031488), hsa-let-7b-5p (MIRT001584), hsa-mir-155-5p (MIRT020603)

    Block miRNA regulation of human, mouse, rat TRMU using miScript Target Protectors
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MTU1_HUMAN, O75648: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    extracellular2
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ISS--

    TRMU for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TRMU About    
    See pathways by source

    SuperPathContained pathways About
    1Sulfur relay system
    Sulfur relay system

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for TRMU):
        Sulfur relay system


    TRMU for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TRMU
    Interactions:

        Search GeneGlobe Interaction Network for TRMU

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TRMU (O756483 ENSP000002908464) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPD1P108093, ENSP000003400194I2D: score=3 STRING: ENSP00000340019
    OLA1Q9NTK53, ENSP000002847194I2D: score=1 STRING: ENSP00000284719
    WDR5P619643, ENSP000003514464I2D: score=1 STRING: ENSP00000351446
    AGLP355733, ENSP000002947244I2D: score=1 STRING: ENSP00000294724
    GTPBP3Q969Y23, ENSP000003516444I2D: score=1 STRING: ENSP00000351644
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006399tRNA metabolic process ----
    GO:0006529asparagine biosynthetic process ----
    GO:0008033tRNA processing IEA--

    TRMU for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TRMU (MTU1)

    2 HMDB Compounds for TRMU    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TRMU gene (7 alternative transcripts): 
    NM_001282782.1  NM_001282783.1  NM_001282784.1  NM_001282785.1  NM_018006.4  NM_001008569.2  NM_001008571.2  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000476901(uc011ara.2 uc003bho.4) ENST00000486620 ENST00000441818(uc003bht.3 uc003bhu.3 uc003bhv.3)
    ENST00000456595 ENST00000381021 ENST00000453630 ENST00000457572 ENST00000290846(uc011arb.1 uc003bhp.3 uc003bhq.3 uc003bhs.3 uc003bhr.3)
    ENST00000381019 ENST00000465378 ENST00000496831 ENST00000485175 ENST00000493556
    ENST00000463785 ENST00000479648 ENST00000491612 ENST00000485559 ENST00000470831

    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat TRMU

    Selected AceView cDNA sequences (see all 356):

    AA478217 BX349469 BI860297 BM755897 BC021234 BQ893343 CR617888 BQ425154 
    BM677781 BU631620 H55425 BP356212 BX370864 BM793258 BU186024 BC075828 
    BU632614 BM975947 BM789346 BU621031 BQ961804 AI199724 BM725352 CR601817 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TRMU (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a ·
    SP1:                                -     -           -                                               -     -                             -     -           -   
    SP2:                                -     -           -                       -                       -     -                             -     -           -   
    SP3:                                -     -           -                                               -     -                             -     -           -   
    SP4:                                -     -           -     -                 -                       -     -                             -     -           -   
    SP5:                                                                          -                       -     -                             -     -           -   

    ExUns: 11b ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e · 13f
    SP1:              -                                       
    SP2:              -                                       
    SP3:        -     -                                       
    SP4:        -     -                                       
    SP5:              -                                       


    ECgene alternative splicing isoforms for TRMU

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TRMU expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TRMU Expression
    About this image

    TRMU Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TRMU Protein Expression

    UniProtKB/Swiss-Prot: MTU1_HUMAN, O75648
    Tissue specificity: Ubiquitous. Abundantly expressed in tissues with high metabolic rates including heart, liver,
    kidney, and brain

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRMU

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TRMU gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trmu1 , 5 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase1, 5 86.27(n)1
    90.6(a)1
      15 (40.42 cM)5
    720261  NM_028063.21  NP_082339.11 
     858793125 
    chicken
    (Gallus gallus)
    Aves TRMU1 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 75.19(n)
    80.45(a)
      425909  NM_001031351.1  NP_001026522.1 
    lizard
    (Anolis carolinensis)
    Reptilia TRMU6
    tRNA 5-methylaminomethyl-2-thiouridylate methyltra...
    77(a)
    1 ↔ 1
    5(99396106-99414377)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.201152 Xenopus laevis transcribed sequence with weak similarity more 75.64(n)    BX854386.1 
    zebrafish
    (Danio rerio)
    Actinopterygii trmu1 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 66.58(n)
    68.26(a)
      553625  NM_001020599.1  NP_001018435.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG30211 CG3021 52.43(n)
    44.59(a)
      53546  NM_144382.4  NP_652639.1 
    worm
    (Caenorhabditis elegans)
    Secernentea B0035.161 B0035.16 50.65(n)
    43.61(a)
      178038  NM_069719.3  NP_502120.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SLM3(YDL033C)4
    SLM31
    tRNA-specific 2-thiouridylase, responsible for 2-thiolation more4
    SLM31
    45.38(n)1
    35.01(a)1
      4(393912-392659)4
    8515291, 4  NP_010251.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G513101 AT1G51310 46.65(n)
    37.96(a)
      841554  NM_104009.2  NP_175542.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g01746001 Os03g0174600 46.55(n)
    40.79(a)
      4331793  NM_001055664.1  NP_001049129.1 


    ENSEMBL Gene Tree for TRMU (if available)
    TreeFam Gene Tree for TRMU (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Polymorphic Variants from UniProtKB/Swiss-Prot
    MTU1_HUMAN, O75648: The polymorphism Ser-10 aggravates the mitochondrial dysfunction associated with a mitochondrial 12S
    ribosomal RNA (rRNA) A1555G mutation that has been associated with aminoglycoside-induced and non-syndromic
    deafness [MIM:580000]


    Selected SNPs for TRMU (see all 741)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0634294
    Liver failure, infantile, transient (LFIT)4--see VAR_0634292 Y H mis40--------
    VAR_0634304
    Liver failure, infantile, transient (LFIT)4--see VAR_0634302 G D mis40--------
    rs110908651,2,,4
    C,F,A,Hpathogenic130648523(+) TGTGCG/TCCCTG 2 A S mis1 ese312Minor allele frequency- T:0.12NA NS EA WA 852
    rs1118354561,2
    C,F--30646154(+) TGTGTA/GTTCAG 1 -- us2k12Minor allele frequency- G:0.15CSA WA 120
    rs96153481,2
    C,F,H--30646172(+) ctgatC/Gaaaga 1 -- us2k16Minor allele frequency- G:0.07NS EA NA 532
    rs1146119131,2
    C,F--30646237(+) ACCACC/TCCCAG 1 -- us2k11Minor allele frequency- T:0.19WA 118
    rs1422856601,2
    --30646284(+) TACACA/GTATTA 1 -- us2k10--------
    rs1126009071,2
    C--30646463(+) CACAAGG/-GAGGG 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1932975941,2
    --30646546(+) CTATCA/GTAACC 1 -- us2k10--------
    rs72852561,2
    C,A--30646574(+) aaaaaC/Aaaaaa 1 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for TRMU (46726772 - 46753237 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for TRMU:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv471214CNV Loss18288195
    nsv834225CNV Loss17160897
    nsv524100CNV Loss19592680
    dgv5013n71CNV Loss21882294
    dgv5014n71CNV Loss21882294
    dgv5015n71CNV Loss21882294
    nsv829293CNV Gain20364138
    nsv829281CNV Gain20364138

    Human Gene Mutation Database (HGMD): TRMU
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TRMU
    DNA2.0 Custom Variant and Variant Library Synthesis for TRMU

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610230   
    OMIM disorders: 580000  613070  
    UniProtKB/Swiss-Prot: MTU1_HUMAN, O75648
  • Liver failure, infantile, transient (LFIT) [MIM:613070]: A transient disorder of hepatic function
    characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum
    lactate. Patients who survive the initial acute episode can recover, show normal development and have no
    recurrence. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for TRMU (see all 25):    
    About MalaCards
    liver failure acute infantile    melas, mt-th-related    liver failure, transient infantile    deafness, mitochondrial, modifier of
    pearson syndrome    nonsyndromic hearing loss and deafness, mitochondrial    dgke-related atypical hemolytic-uremic syndrome    sideroblastic anemia
    deafness and hereditary hearing loss    lactic acidosis    myoclonus epilepsy    mitochondrial encephalomyopathy
    encephalomyopathy    myoclonus    nonsyndromic hearing loss and deafness    acute liver failure
    nonsyndromic deafness    myopathy    pneumonia    diabetes mellitus

    3 diseases from the University of Copenhagen DISEASES database for TRMU:
    Pearson syndrome     Mitochondrial encephalomyopathy     Nonsyndromic deafness

    TRMU for disorders           About GeneDecksing

    Genetic Association Database (GAD): TRMU
    Human Genome Epidemiology (HuGE) Navigator: TRMU (4 documents)

    Export disorders for TRMU gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TRMU gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with TRMU)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase. (PubMed id 14746906)1, 3, 9 Yan Q. and Guan M.X. (Biochim. Biophys. Acta 2004)
    2. Acute infantile liver failure due to mutations in the TRMU gene. (PubMed id 19732863)1, 2, 9 Zeharia A.... Elpeleg O. (Am. J. Hum. Genet. 2009)
    3. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. (PubMed id 16826519)1, 2, 9 Guan M.-X.... Fischel-Ghodsian N. (Am. J. Hum. Genet. 2006)
    4. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2- methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. (PubMed id 16513084)1, 2, 9 Yan Q.... Guan M.-X. (Biochem. Biophys. Res. Commun. 2006)
    5. Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases. (PubMed id 15509579)1, 2, 9 Umeda N....Suzuki T. (J. Biol. Chem. 2005)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PubMed id 19209188)1, 4 Reiling E....Dekker J.M. (Eur. J. Hum. Genet. 2009)
    8. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment. (PubMed id 19338775)1, 4 de Moraes V.C....Sartorato E.L. (Biochem. Biophys. Res. Commun. 2009)
    9. Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA. (PubMed id 15944150)1, 2 Yan Q.... Guan M.-X. (J. Biol. Chem. 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55687 HGNC: 25481 AceView: GTSE1andTRMT1andLOC440834 Ensembl:ENSG00000100416 euGenes: HUgn55687
    ECgene: TRMU Kegg: 55687 H-InvDB: TRMU

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TRMU Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TRMU gene:
    Search GeneIP for patents involving TRMU

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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