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

MTO1 Gene

protein-coding   GIFtS: 58
GCID: GC06P074171

Mitochondrial TRNA Translation Optimization 1

(Previous name: mitochondrial translation optimization 1 homolog (S. cerevisiae))
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
Mitochondrial TRNA Translation Optimization 11 2     Mitochondrial Translation Optimization 1 Homolog2
Mitochondrial Translation Optimization 1 Homolog (S. Cerevisiae)1     Protein MTO1 Homolog, Mitochondrial2
COXPD102     EC 1.1.1.408
Homolog Of Yeast Mto12     EC 6.3.58
Mitochondrial MTO1-32     

External Ids:    HGNC: 192611   Entrez Gene: 258212   Ensembl: ENSG000001352977   OMIM: 6146675   UniProtKB: Q9Y2Z23   

Export aliases for MTO1 gene to outside databases

Previous GC identifers: GC06P074129 GC06P074167 GC06P074228 GC06P071369


(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 MTO1 Gene:
This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded
protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness
phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for MTO1 Gene: 
MTO1 (mitochondrial tRNA translation optimization 1) is a protein-coding gene. Diseases associated with MTO1 include combined oxidative phosphorylation deficiency 10, and mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency. GO annotations related to this gene include flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot: MTO1_HUMAN, Q9Y2Z2
Function: Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in
mitochondrial tRNAs

Gene Wiki entry for MTO1 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
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007299.13  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MTO1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTO1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTO1


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

Entrez Gene cytogenetic band: 6q13   Ensembl cytogenetic band:  6q13   HGNC cytogenetic band: 6q14.1

MTO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTO1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P074171:  view genomic region     (about GC identifiers)

Start:
74,171,301 bp from pter      End:
74,218,959 bp from pter
Size:
47,659 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: MTO1_HUMAN, Q9Y2Z2 (See protein sequence)
Recommended Name: Protein MTO1 homolog, mitochondrial precursor  
Size: 717 amino acids; 79964 Da
Cofactor: FAD (By similarity)
Subcellular location: Mitochondrion (By similarity)
Sequence caution: Sequence=AAD27712.1; Type=Frameshift; Positions=9; Sequence=AAH05808.2; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
Secondary accessions: B3KQB5 Q5SWL2 Q5SWL3 Q5SWL4 Q8NDN7 Q8WZ57 Q96FE6 Q9BS06
Alternative splicing: 6 isoforms:  Q9Y2Z2-1   Q9Y2Z2-2   Q9Y2Z2-3   Q9Y2Z2-4   Q9Y2Z2-5   Q9Y2Z2-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MTO1: NX_Q9Y2Z2

Explore proteomics data for MTO1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2Z2

  • 2 DME Specific Peptides for MTO1 (Q9Y2Z2)
     VIGLETH  TIRDVSL 

    MTO1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MTO1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001116698.1  NP_036255.2  NP_598400.1  

    ENSEMBL proteins: 
     ENSP00000402038   ENSP00000419561   ENSP00000396529   ENSP00000359328   ENSP00000428302  
     ENSP00000416397   ENSP00000359323   ENSP00000428903   ENSP00000407580   ENSP00000430660  
     ENSP00000428863   ENSP00000429595  

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    Novus Biologicals MTO1 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MTO1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    MTO1 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
    4 InterPro protein domains:
     IPR013027 FAD_pyr_nucl-diS_OxRdtase
     IPR026904 GidA-assoc_3
     IPR002218 GIDA-rel
     IPR020595 GIDA-rel_CS

    Graphical View of Domain Structure for InterPro Entry Q9Y2Z2

    ProtoNet protein and cluster: Q9Y2Z2

    1 Blocks protein domain: IPB002218 Glucose-inhibited division protein

    UniProtKB/Swiss-Prot: MTO1_HUMAN, Q9Y2Z2
    Similarity: Belongs to the MnmG family


    MTO1 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: MTO1_HUMAN, Q9Y2Z2
    Function: Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in
    mitochondrial tRNAs

         Enzyme Numbers (IUBMB): EC 6.3.52 EC 1.1.1.402

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity ----
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    MTO1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MTO1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MTO1 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTO1


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTO1

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

    5/41 Interacting proteins for MTO1 (Q9Y2Z23 ENSP000004020384) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206353Q154773I2D: score=1 
    ENSG00000223493Q154773I2D: score=1 
    ENSG00000225737Q154773I2D: score=1 
    ENSG00000228896Q154773I2D: score=1 
    ENSG00000232616Q154773I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002098tRNA wobble uridine modification ----
    GO:0008033tRNA processing ----
    GO:0055114oxidation-reduction process IEA--
    GO:0070899mitochondrial tRNA wobble uridine modification IEA--

    MTO1 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 MTO1

    1 HMDB Compound for MTO1    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--

    Search CenterWatch for drugs/clinical trials and news about MTO1

    (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 MTO1 gene (3 alternative transcripts): 
    NM_001123226.1  NM_012123.3  NM_133645.2  

    Unigene Cluster for MTO1:

    Mitochondrial translation optimization 1 homolog (S. cerevisiae)
    Hs.347614  [show with all ESTs]
    Unigene Representative Sequence: NM_001123226
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000415954 ENST00000498286(uc010kav.3 uc003pgz.4 uc003pha.4)
    ENST00000442897 ENST00000370305(uc010kaw.1) ENST00000521032 ENST00000370308
    ENST00000415228 ENST00000370300(uc003pgy.4 uc003phb.4) ENST00000522205(uc003phc.1)
    ENST00000462039 ENST00000518210 ENST00000485082 ENST00000466977 ENST00000445187
    ENST00000520366 ENST00000487960 ENST00000524046 ENST00000521156
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTO1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate MTO1
    SwitchGear 3'UTR luciferase reporter plasmidMTO1 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTO1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTO1

    Additional mRNA sequence: 

    AF132937.1 AF319422.2 AF469110.1 AF469111.1 AK026073.1 AK074625.1 AK225828.1 AL833823.1 
    AY078985.1 AY078986.1 AY947715.1 AY947716.1 BC005808.2 BC011051.1 DQ656037.2 

    17 DOTS entries:

    DT.97855164  DT.455427  DT.100650931  DT.97795420  DT.100034226  DT.95234208  DT.95131199  DT.100650934 
    DT.100650932  DT.100650935  DT.100650919  DT.100872296  DT.121400859  DT.102842223  DT.121401059  DT.121401136 
    DT.121400519 

    24/204 AceView cDNA sequences (see all 204):

    CR616760 AF469110 BC005808 AI744674 AK074625 BE070650 CA443179 BQ718226 
    AI160271 BQ002267 BX401352 BU165266 CR605187 BG177377 AK026073 AY078985 
    NM_133645 BM807184 BG026018 CA309169 AU280169 AA278420 AA573289 BM980628 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for MTO1 (see all 17)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a ·
    SP1:                                -     -     -                 -     -                                                                             -     -   
    SP2:                                -     -     -                 -     -                                                           -     -           -     -   
    SP3:                                -     -     -                 -     -                                                           -     -           -     -   
    SP4:                                -     -     -                 -     -     -     -     -     -                                   -     -           -     -   
    SP5:              -     -     -     -     -     -                 -     -                                                                                       

    ExUns: 14b · 14c · 14d · 14e ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b · 19c
    SP1:                                -                                       
    SP2:                                -                                       
    SP3:                                -                                       
    SP4:                                -                                       
    SP5:                                                                        


    ECgene alternative splicing isoforms for MTO1

    (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

    MTO1 expression in normal human tissues (normalized intensities)      MTO1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGATTTGCC
    MTO1 Expression
    About this image


    MTO1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             bone marrow cd34+   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See MTO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MTO1

    SOURCE GeneReport for Unigene cluster: Hs.347614

    UniProtKB/Swiss-Prot: MTO1_HUMAN, Q9Y2Z2
    Tissue specificity: Ubiquitously expressed in various tissues, but with a markedly elevated expression in tissues
    of high metabolic rates including cochlea

        SABiosciences Expression via Pathway-Focused PCR Array including MTO1: 
              Prostate Cancer in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTO1

    (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 MTO1 gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mto11 , 5 mitochondrial translation optimization 1 homolog (S. more1, 5 84.71(n)1
    87.52(a)1
      9 (43.65 cM)5
    682911  NM_026658.21  NP_080934.21 
     784482085 
    chicken
    (Gallus gallus)
    Aves MTO11 mitochondrial translation optimization 1 homolog (S. more 70.38(n)
    73.71(a)
      772297  NM_001079764.1  NP_001073232.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTO16
    Uncharacterized protein
    59(a)
    1 ↔ 1
    GL343341.1(127486-147543)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1587821 zgc:158782 55.61(n)
    53.27(a)
      100009640  NM_001083009.1  NP_001076478.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG46101 , 3 CG46101 54(a)3
    57.11(n)1
    58.13(a)1
      375711  NM_137833.11  NP_611677.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F52H3.21 , 3 glucose inhibited division protein3
    Protein F52H3.21
    49(a)3
    54.26(n)1
    52.13(a)1
      II(10030934-10033118)3
    1745631  NM_063768.41  NP_496169.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MTO11 Mto1p 52.15(n)
    49.13(a)
      852616   NP_011278.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G134401 glucose-inhibited division family A protein 49.79(n)
    42.08(a)
      815830  NM_126930.2  NP_178974.1 
    rice
    (Oryza sativa)
    Liliopsida Os.377622 Oryza sativa (japonica cultivar-group) cDNA clone0 more 73.94(n)    AK100099.1 


    ENSEMBL Gene Tree for MTO1 (if available)
    TreeFam Gene Tree for MTO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MTO1 gene
    5 SIMAP similar genes for MTO1 using alignment to 9 protein entries:     MTO1_HUMAN (see all proteins):
    CALCOCO2    RBP7    ZNF429    RHBG    SLC24A1

    MTO1 for paralogs           About GeneDecksing



    (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

    10/968 SNPs in MTO1 are shown (see all 968)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0686934
    Combined oxidative phosphorylation deficiency 10 (COXPD10)4--see VAR_0686932 A T mis40--------
    rs1419700721,2
    Cuntested174220813(+) ATACCA/G/TCATGT 6 R L mis10--------
    rs122120881,2
    --74169716(+) cttcaC/Tcccca 3 -- us2k10--------
    rs673213901,2
    C--74170677(+) TTTTT-/TTTT  
      TTTTTT
    TTTTT
    3 -- us2k11Minor allele frequency- TTTTTTTTTT:0.00NA 2
    rs709968061,2
    C--74177338(+) AAATA-/AATA/ 
    AATAAATA
    TAAAA
    3 -- int11NA 2
    rs1134140321,2
    C,F--74177788(+) CCACCC/TGCCTC 3 -- int11Minor allele frequency- T:0.50WA 2
    rs112905061,2
    C--74179374(+) AACAC-/TTAACT 3 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs2008433351,2
    C--74179925(+) TTTTT-/TCTTTT 3 -- int10--------
    rs113840401,2
    C--74180929(+) TTTTTT/-AAGTT 3 -- int1 trp32Minor allele frequency- -:0.00NA CSA 4
    rs348203881,2
    C--74181733(+) TATCT-/GAGGAC 3 -- int12Minor allele frequency- G:0.00NA CSA 4

    HapMap Linkage Disequilibrium report for MTO1 (74171301 - 74218959 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MTO1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676283CNV Deletion23128226
    nsv823733CNV Loss20364138
    nsv830693CNV Loss17160897
    nsv886158CNV Gain21882294


    Human Gene Mutation Database (HGMD): MTO1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MTO1
    DNA2.0 Custom Variant and Variant Library Synthesis for MTO1

    (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: 614667    OMIM disorders: --

    UniProtKB/Swiss-Prot: MTO1_HUMAN, Q9Y2Z2
  • Combined oxidative phosphorylation deficiency 10 (COXPD10) [MIM:614702]: An autosomal recessive disorder
    resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy
    with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most
    severe cases. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for MTO1:    About MalaCards
    combined oxidative phosphorylation deficiency 10    mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency    sensorineural hearing loss    nonsyndromic deafness
    lactic acidosis    hypertrophic cardiomyopathy    pneumonia    diabetes mellitus
    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for MTO1:
    Nonsyndromic deafness

    MTO1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MTO1
    Human Genome Epidemiology (HuGE) Navigator: MTO1 (3 documents)

    Export disorders for MTO1 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 MTO1 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with MTO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations of the mitochondrial-tRNA modifier MTO1 caus e hypertrophic cardiomyopathy and lactic acidosis. (PubMed id 22608499)1, 2, 3 Ghezzi D....Zeviani M. (2012)
    2. Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation. (PubMed id 12011058)1, 2, 3 Li X.M.... Guan M.-X. (2002)
    3. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment. (PubMed id 19338775)1, 4, 9 de Moraes V.C....Sartorato E.L. (2009)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. 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)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    8. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)
    9. Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness. (PubMed id 18391568)1, 9 Otaegui D....Lopez de Munain A. (2008)
    10. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. (PubMed id 15542390)1, 9 Bykhovskaya Y....Fischel-Ghodsian N. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 25821 HGNC: 19261 AceView: MTO1 Ensembl:ENSG00000135297 euGenes: HUgn25821
    ECgene: MTO1 H-InvDB: MTO1

    (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 MTO1 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 MTO1 gene:
    Search GeneIP for patents involving MTO1

    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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