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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
Microbiology & Infectious Diseases Congress
  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)
About This Section

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   

Export aliases for TRMU gene to outside databases

Previous GC identifers: GC22P045053 GC22P045109 GC22P029675


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 mitochondrial myopathy with reversible cytochrome c oxidase deficiency, and among its related super-pathways are Molybdenum cofactor biosynthesis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TRMU

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MTU1_HUMAN, O75648 (See protein sequence)
Recommended Name: Mitochondrial tRNA-specific 2-thiouridylase 1  
Size: 421 amino acids; 47745 Da
Subcellular location: Mitochondrion
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75648

  • 4/13 DME Specific Peptides for TRMU (O75648) (see all 13)
     IATGHYA  CNKHIKF  KDQTFFL  GVFMKNW 

    TRMU Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TRMU Protein Expression
    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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    Novus Biologicals TRMU Protein
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    Cloud-Clone Corp. Proteins for TRMU 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    TRMU for ontologies           About GeneDecksing



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

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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 NAS--
    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 - Custom generated mouse model solutions for TRMU 
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    miRNA
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    miRTarBase miRNAs that target TRMU:
    hsa-let-7b (MIRT001584)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TRMU
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    SwitchGear 3'UTR luciferase reporter plasmidTRMU 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRMU


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TRMU About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Molybdenum cofactor biosynthesis
    Sulfur relay system0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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


    TRMU for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TRMU

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/53 Interacting proteins for TRMU (O756483 ENSP000002908464) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPD1P108093, ENSP000003400194I2D: score=3 STRING: ENSP00000340019
    OLA1Q9NTK53, ENSP000002847194I2D: score=1 STRING: ENSP00000284719
    MTO1Q9Y2Z23, ENSP000004020384I2D: score=1 STRING: ENSP00000402038
    AGLP355733, ENSP000002947244I2D: score=1 STRING: ENSP00000294724
    GTPBP3Q969Y23, ENSP000003516444I2D: score=1 STRING: ENSP00000351644
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

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

    TRMU for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about TRMU / MTU1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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  

    18/19 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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Primer
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    24/356 AceView cDNA sequences (see all 356):

    BX952332 BM793258 AI193236 AI493684 BQ425154 BQ008558 BM789346 BM857231 
    AA766703 CF272279 NM_016426 BM755897 NM_018006 BU186024 AA663532 BE501707 
    Z45766 BI860297 AA478217 AW131771 BX353147 AA192794 BP364179 BM788057 

    GeneLoc Exon Structure

    5/17 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See TRMU Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TRMU

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

        SABiosciences Custom PCR Arrays for TRMU
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TRMU gene from 10/22 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...
    76(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 52.34(n)
    44.59(a)
      53546  NM_144382.3  NP_652639.1 
    worm
    (Caenorhabditis elegans)
    Secernentea B0035.161 Protein B0035.16 50.46(n)
    43.61(a)
      178038  NM_069719.2  NP_502120.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SLM3(YDL033C)4
    SLM31
    tRNA-specific 2-thiouridylase, responsible for 2-thiolation more4
    Slm3p1
    45.47(n)1
    34.73(a)1
      4(393912-392659)4
    8515291, 4  NP_010251.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G513101 tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase 46.65(n)
    37.96(a)
      841554  NM_104009.2  NP_175542.2 
    rice
    (Oryza sativa)
    Liliopsida Os03g01746001 hypothetical protein 46.08(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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: MTU1_HUMAN, O75648
    Polymorphism: 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]


    10/741 SNPs in TRMU are shown (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
    Transient infantile liver failure (LFIT)4--see VAR_0634292 Y H mis40--------
    VAR_0634304
    Transient infantile liver failure (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
    VAR_0634314
    ----see VAR_0634312 V M mis40--------
    VAR_0634284
    ----see VAR_0634282 G S mis40--------
    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

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610230   
    OMIM disorders: 580000  613070  
    UniProtKB/Swiss-Prot: MTU1_HUMAN, O75648
  • Transient infantile liver failure (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

  • 19 diseases for TRMU:    About MalaCards
    liver failure acute infantile    mitochondrial myopathy with reversible cytochrome c oxidase deficiency    deafness, mitochondrial, modifier of    pearson syndrome
    myoclonus epilepsy    lactic acidosis    mitochondrial encephalomyopathy    sideroblastic anemia
    myoclonus    encephalomyopathy    nonsyndromic deafness    jaundice
    pneumonia    myopathy    tuberculosis    diabetes mellitus
    anemia    gastric cancer    hepatitis

    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)
    About This Section

    PubMed articles for TRMU gene, integrated from 9 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 gen e encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransfer ase. (PubMed id 14746906)1, 3, 9 Yan Q. and Guan M.X. (2004)
    2. Acute infantile liver failure due to mutations in the TRMU gene. (PubMed id 19732863)1, 2, 9 Zeharia A....Elpeleg O. (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. (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. (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. (2005)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (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. (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. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 55687 HGNC: 25481 AceView: GTSE1andTRMT1andLOC440834 Ensembl:ENSG00000100416 euGenes: HUgn55687
    ECgene: TRMU Kegg: 55687 H-InvDB: TRMU

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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