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

TRMU Gene

protein-coding   GIFtS: 53
GCID: GC22P046726

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase

(Previous name: tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase...)
(Previous symbol: TRMT)
 Explore 15 diseases affiliated with
TRMU via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TRMU    

Aliases
for TRMU gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase1 2     FLJ101401
MTO21 2 5     TRNA (5-Methylaminomethyl-2-Thiouridylate)-Methyltransferase1
TRMT1 2     Mitochondrial 5-Methylaminomethyl-2-Thiouridylate-Methyltransferase2
MTU12 3     Mitochondrial TRNA-Specific 2-Thiouridylase 12
TRMT12 3     EC 2.8.1.-3
MTO2 Homolog2 3     EC 2.8.18
TRNT12 5     

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


Summaries
for TRMU gene

(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:
This gene is a member of the trmU family. It encodes a mitochondria-specific tRNA-modifying enzyme that is required for
the 2-thio modification of 5-taurinomethyl-2-thiouridine tRNA-Lys on the wobble position of the anticodon. (provided
by RefSeq, Jul 2008)

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


Genomic Views
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 69), 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 plasmid: TRMU 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

Proteins
for TRMU gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060476.2  
    ENSEMBL proteins: 
     ENSP00000393014   ENSP00000413880   ENSP00000370409   ENSP00000398488   ENSP00000407700  
     ENSP00000290846   ENSP00000370407   ENSP00000406038  

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    Novus Biologicals TRMU Protein
    Novus Biologicals TRMU Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    TRMU Antibody Products: 
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    Uscn Antibodies for TRMU
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    Uscn ELISAs and CLIAs for TRMU

    Protein Domains /
    Families
    for TRMU gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TRMU for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB004506 tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase

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


    Function
    for TRMU gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    hsa-let-7b (MIRT001584)

    OriGene 3'-UTR Clone: TRMU
    Browse MicroRNA Expression Plasmids
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    SwitchGear 3'UTR luciferase reporter plasmid: TRMU 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TRMU (see all 7)
    OriGene shRNA RFP: TRMU
    OriGene siRNA: TRMU
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TRMU

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TRMU

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TRMU (see all 3)
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    GenScript: all cDNA clones in your preferred vector: TRMU (NM_018006)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRMU 

    Cell Line
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    Search LifeMap BioReagents cell lines for TRMU

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

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding IEA--
    GO:0004808tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity NAS--
    GO:0005524ATP binding IEA--
    GO:0008168methyltransferase activity ----
    GO:0016783sulfurtransferase activity IEA--


    TRMU for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for TRMU gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Molybdenum cofactor biosynthesis
    		Sulfur relay system0.33

    Pathway sources
    See GeneCards unified pathways
    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): 2 biological process terms (GO ID links to tree view):    About this table

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


    TRMU for ontologies           About GeneDecksing



    Drugs & Compounds
    for TRMU gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 

    Transcripts
    for TRMU gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TRMU gene (5 alternative transcripts): 
    NM_018006.4  NM_001008568.2  NM_001008569.2  NM_001008570.2  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


    miRNA
    Products:             		 OriGene 3'-UTR Clone: TRMU
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TRMU
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate TRMU
    SwitchGear 3'UTR luciferase reporter plasmid: TRMU 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TRMU (see all 7)
    OriGene shRNA RFP: TRMU
    OriGene siRNA: TRMU
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TRMU
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TRMU
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: TRMU (NM_018006)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TRMU
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TRMU 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TRMU
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TRMU
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TRMU

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

    BX353147 AY062123 BP352185 BC021234 BQ893343 BQ683005 CR617888 AI204575 
    BI860297 CR601817 BP364179 BQ008558 BX349469 AI273359 AA192794 NM_016426 
    NM_018006 BC075828 BU186024 AI493684 BE501707 BQ425154 BX426029 BM857231 

    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

    Expression
    for TRMU gene

    (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
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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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    Orthologs
    for TRMU gene

    (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 last universal common ancestor (LUCA).

    Orthologs for TRMU gene from 11/35 species (see all 35)    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
    		 --
    		 77(a)
    		 1 ↔ 1
    		 5(99396616-99415243)
    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
    for TRMU gene

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

    Genomic Variants
    for TRMU gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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]


    10/583 NCBI SNPs in TRMU are shown (see all 583)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs110908651,2
    		C,F,A,H,pathogenic29675696(+) TGTGCG/TCCCTG 2 A S mis1 ese312Minor allele frequency- T:0.12NA NS EA WA 852
    rs1118354561,2
    		--29673327(+) TGTGTA/GTTCAG 1 -- us2k12Minor allele frequency- G:0.15CSA WA 120
    rs96153481,2
    		C,F,H,--29673345(+) CTGATC/GAAAGA 1 -- us2k16Minor allele frequency- G:0.07NS EA NA 532
    rs1126009071,2
    		C--29673636(+) CACAAGG/-GAGGG 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs72852561,2
    		C,A,--29673747(+) aaaaaC/Aaaaaa 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs761081301,2
    		F,--29673754(+) AAAAAC/TTTCTG 1 -- us2k11Minor allele frequency- T:0.07NA 120
    rs746385381,2
    		C,--29673820(+) TGTTAT/CTGATC 1 -- us2k13Minor allele frequency- C:0.05CSA WA NA 240
    rs96159521,2
    		C,F,A,--29674026(+) tacaaT/Aaatta 1 -- us2k12Minor allele frequency- A:0.50NA CSA 4
    rs72895861,2
    		C,F,A,--29674134(+) gatcaC/Tgccac 1 -- us2k13Minor allele frequency- T:0.33NA CSA 6
    rs72876891,2
    		C,F,A,H,--29674160(+) tgaccA/Gagtga 1 -- us2k111Minor allele frequency- G:0.32NS EA NA WA CSA 655

    HapMap Linkage Disequilibrium report for TRMU (46726772 - 46753237 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TRMU: --
    Human Gene Mutation Database (HGMD): TRMU

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TRMU
    DNA2.0 Custom Variant and Variant Library Synthesis for TRMU

    Disorders / Diseases
    for TRMU gene

    (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.)
    About This Section
    TRMU for disorders           About GeneDecksing

    OMIM gene information: 610230   
    OMIM disorders: 580000  613070  
    UniProtKB/Swiss-Prot: MTU1_HUMAN, O75648
  • Defects in TRMU are a cause of 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

    15 diseases for TRMU:    About MalaCards
    deafness, mitochondrial, modifier of    liver failure acute infantile    mitochondrial encephalomyopathy    lactic acidosis
    myoclonus epilepsy    pearson syndrome    myoclonus    encephalomyopathy
    diabetes mellitus    jaundice    pneumonia    tuberculosis
    hepatitis    malaria    mycobacterium tuberculosis

    3 diseases from the University of Copenhagen DISEASES database for TRMU:
    Pearson syndrome     Mitochondrial encephalomyopathy     Nonsyndromic deafness
    Human Genome Epidemiology (HuGE) Navigator: TRMU (4 documents)

    Export disorders for TRMU gene to outside databases

    Publications
    for TRMU gene

    (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 22):
    (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. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    9. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    10. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. (PubMed id 22504945)1 Sasarman F.... Shoubridge E.A. (2012)

    External Searches for TRMU gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    Genome Databases showing TRMU gene

    (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

    Other Databases showing TRMU gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TRMU gene

    (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

    Intellectual Property
    for TRMU gene

    (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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    About This Section

     
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