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MTO1 Gene

protein-coding   GIFtS: 59
GCID: GC06P074171

Mitochondrial TRNA Translation Optimization 1

(Previous name: mitochondrial translation optimization 1 homolog (S. cerevisiae))
  See MTO1-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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Aliases
Mitochondrial TRNA Translation Optimization 11 2     Mitochondrial Translation Optimization 1 Homolog2
COXPD102 5     Protein MTO1 Homolog, Mitochondrial2
Mitochondrial Translation Optimization 1 Homolog (S. Cerevisiae)1     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hepatocellular fibrolamellar carcinoma. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MTO1
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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: 

  • Ubiquitination2 at Lys227, Lys297, Lys321, Lys516, Lys555
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for MTO1 (Q9Y2Z2)
     VIGLETH  TIRDVSL 


    See MTO1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    MTO1 Human Recombinant Protein Products:

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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

     
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    antibodies-online proteins for MTO1 

     
    antibodies-online peptides for MTO1

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    antibodies-online antibodies for MTO1 (10 products) 

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    antibodies-online kits for MTO1 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with MTO1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity ----
    GO:0044822poly(A) RNA binding IDA--
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    Find genes that share ontologies with MTO1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MTO1

    miRNA
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    miRTarBase miRNAs that target MTO1:
    hsa-mir-100-5p (MIRT048594)

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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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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
    MTO1_HUMAN, Q9Y2Z2: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol2
    nucleus2
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with MTO1           About GenesLikeMe


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including MTO1: 
              Prostate Cancer in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MTO1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for MTO1 (Q9Y2Z23 ENSP000004020384) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    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:    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--

    Find genes that share ontologies with MTO1           About GenesLikeMe



    (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 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--



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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
    miRNA
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    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MTO1
      QuantiTect SYBR Green Assays in human, mouse, rat MTO1
      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 

    Selected AceView cDNA sequences (see all 204):

    BC005808 AF469110 AW073286 AK074625 BE070650 CA443179 BQ718226 AI160271 
    BQ002267 BX401352 BU165266 CR605187 BG177377 AK026073 AY078985 NM_133645 
    BM807184 BG026018 CA309169 AU280169 AA278420 AA573289 BM980628 BM707952 

    GeneLoc Exon Structure

    Selected 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™, 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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    MTO1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    MTO1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MTO1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including MTO1: 
              Prostate Cancer in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MTO1 gene from Selected 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 84.81(n)1
    87.71(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 70.68(n)
    74.58(a)
      772297  NM_001079764.1  NP_001073232.1 
    lizard
    (Anolis carolinensis)
    Reptilia MTO16
    mitochondrial tRNA translation optimization 1
    59(a)
    1 ↔ 1
    GL343341.1(127486-147543)
    zebrafish
    (Danio rerio)
    Actinopterygii mto11 mitochondrial translation optimization 1 homolog (S. more 55.57(n)
    53.19(a)
      100009640  NM_001083009.1  NP_001076478.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG46101 , 3 CG46101 54(a)3
    57.17(n)1
    58.13(a)1
      375711  NM_137833.21  NP_611677.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F52H3.21 , 3 glucose inhibited division protein3
    F52H3.21
    49(a)3
    54.63(n)1
    52.55(a)1
      II(10030934-10033118)3
    1745631  NM_063768.51  NP_496169.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MTO11 MTO1 52.56(n)
    49.92(a)
      852616   NP_011278.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G134401 AT2G13440 49.95(n)
    42.95(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)
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    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

    Find genes that share paralogs with MTO1           About GenesLikeMe



    (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)
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    Selected SNPs for MTO1 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614667   
    OMIM disorders: 614702  
    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

  • 2 diseases for MTO1:    
    About MalaCards
    combined oxidative phosphorylation deficiency 10    hepatocellular fibrolamellar carcinoma

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

    Find genes that share disorders with MTO1           About GenesLikeMe

    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)
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    PubMed articles for MTO1 gene, integrated from 10 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 cause hypertrophic cardiomyopathy and lactic acidosis. (PubMed id 22608499)1, 2, 3 Ghezzi D.... Zeviani M. (Am. J. Hum. Genet. 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. (J. Biol. Chem. 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. (Biochem. Biophys. Res. Commun. 2009)
    4. 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)
    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. (Eur. J. Hum. Genet. 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. (Genome Res. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 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.-C. (Genome Res. 2000)
    9. Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness. (PubMed id 18391568)1, 9 Otaegui D....LA^pez de Munain A. (amp 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. (Mol. Genet. Metab. 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: 25821 HGNC: 19261 AceView: MTO1 Ensembl:ENSG00000135297 euGenes: HUgn25821
    ECgene: MTO1 H-InvDB: MTO1

    (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 MTO1 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 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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