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Aliases for MTO1 Gene

Aliases for MTO1 Gene

  • Mitochondrial TRNA Translation Optimization 1 2 3 5
  • Mitochondrial Translation Optimization 1 Homolog (S. Cerevisiae) 2
  • Mitochondrial Translation Optimization 1 Homolog 3
  • Protein MTO1 Homolog, Mitochondrial 3
  • Homolog Of Yeast Mto1 3
  • Mitochondrial MTO1-3 3
  • EC 1.1.1.40 58
  • EC 6.3.5 58
  • COXPD10 3
  • CGI-02 3

External Ids for MTO1 Gene

Previous GeneCards Identifiers for MTO1 Gene

  • GC06P074129
  • GC06P074167
  • GC06P074228
  • GC06P074171
  • GC06P071369

Summaries for MTO1 Gene

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 Optic Nerve Sheath Meningioma. Among its related pathways are tRNA processing and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot for MTO1 Gene

  • 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

Additional gene information for MTO1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTO1 Gene

Genomics for MTO1 Gene

Regulatory Elements for MTO1 Gene

Enhancers for MTO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H073460 1.1 ENCODE 81.1 +0.3 257 2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SP3 ZC3H11A ZHX2 MTO1 EEF1A1 KHDC1 SLC17A5 EIF3EP1 CD109 RPL39P3 RNU6-975P
GH06H073513 1.7 Ensembl ENCODE dbSUPER 41 +57.6 57551 11 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A ZFP41 MEF2D MTO1 EEF1A1 EIF3EP1 SLC17A5 OOEP-AS1 KHDC1P1 ENSG00000229852 KCNQ5-AS1 GC06M073519 GC06M073517
GH06H073564 1.6 Ensembl ENCODE dbSUPER 42.4 +105.1 105094 4 PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF766 ZNF143 SP5 MTO1 SLC17A5 EIF3EP1 GC06P073558 GC06P073601
GH06H073577 2 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +118.1 118110 5 HDGF FOXA2 ARNT ARID4B DMAP1 YY1 ZNF766 ZNF143 ZNF207 ZNF548 SLC17A5 MTO1 EEF1A1 LOC105377857 CD109 MB21D1 GC06P073601 GC06P073558
GH06H073798 1.2 Ensembl ENCODE 20.5 +337.2 337199 1 FOXA2 GLI4 ZNF2 GLIS2 FOS ATF7 RUNX3 SP3 JUNB REST MTO1 CD109 PIR44699 LOC101928489
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTO1 on UCSC Golden Path with GeneCards custom track

Promoters for MTO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000198845 422 2001 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SP3 ZC3H11A ZHX2

Genomic Location for MTO1 Gene

Chromosome:
6
Start:
73,461,578 bp from pter
End:
73,509,236 bp from pter
Size:
47,659 bases
Orientation:
Plus strand

Genomic View for MTO1 Gene

Genes around MTO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTO1 Gene

Proteins for MTO1 Gene

  • Protein details for MTO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2Z2-MTO1_HUMAN
    Recommended name:
    Protein MTO1 homolog, mitochondrial
    Protein Accession:
    Q9Y2Z2
    Secondary Accessions:
    • B3KQB5
    • Q5SWL2
    • Q5SWL3
    • Q5SWL4
    • Q8NDN7
    • Q8WZ57
    • Q96FE6
    • Q9BS06

    Protein attributes for MTO1 Gene

    Size:
    717 amino acids
    Molecular mass:
    79964 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD27712.1; Type=Frameshift; Positions=9; Evidence={ECO:0000305}; Sequence=AAH05808.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MTO1 Gene

neXtProt entry for MTO1 Gene

Selected DME Specific Peptides for MTO1 Gene

Q9Y2Z2:
  • TIRDVSL
  • VIGLETH

Post-translational modifications for MTO1 Gene

  • Ubiquitination at posLast=227227, posLast=297297, posLast=321321, Lys516, Lys555, and posLast=275275
  • Modification sites at PhosphoSitePlus

Domains & Families for MTO1 Gene

Gene Families for MTO1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MTO1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2Z2

UniProtKB/Swiss-Prot:

MTO1_HUMAN :
  • Belongs to the MnmG family.
Family:
  • Belongs to the MnmG family.
genes like me logo Genes that share domains with MTO1: view

Function for MTO1 Gene

Molecular function for MTO1 Gene

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

Enzyme Numbers (IUBMB) for MTO1 Gene

Gene Ontology (GO) - Molecular Function for MTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
GO:0016491 oxidoreductase activity IEA --
GO:0050660 flavin adenine dinucleotide binding IBA,IEA --
genes like me logo Genes that share ontologies with MTO1: view
genes like me logo Genes that share phenotypes with MTO1: view

Human Phenotype Ontology for MTO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MTO1

CRISPR Products

miRNA for MTO1 Gene

miRTarBase miRNAs that target MTO1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MTO1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for MTO1 Gene

Localization for MTO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTO1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTO1 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with MTO1: view

Pathways & Interactions for MTO1 Gene

genes like me logo Genes that share pathways with MTO1: view

Pathways by source for MTO1 Gene

Gene Ontology (GO) - Biological Process for MTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008033 tRNA processing IEA --
GO:0030488 tRNA methylation IBA --
GO:0055114 oxidation-reduction process IEA --
GO:0070899 mitochondrial tRNA wobble uridine modification IBA --
genes like me logo Genes that share ontologies with MTO1: view

No data available for SIGNOR curated interactions for MTO1 Gene

Drugs & Compounds for MTO1 Gene

(1) Drugs for MTO1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
genes like me logo Genes that share compounds with MTO1: view

Transcripts for MTO1 Gene

Unigene Clusters for MTO1 Gene

Mitochondrial translation optimization 1 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MTO1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MTO1 Gene

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: - - - - - - - -
SP6: - - - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - -
SP9: - -
SP10:
SP11: -
SP12: - - -
SP13: - - -
SP14: - -
SP15: - -
SP16: -
SP17:

ExUns: 14b · 14c · 14d · 14e ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b · 19c
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9: - - - - -
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for MTO1 Gene

GeneLoc Exon Structure for
MTO1
ECgene alternative splicing isoforms for
MTO1

Expression for MTO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTO1 Gene

Protein differential expression in normal tissues from HIPED for MTO1 Gene

This gene is overexpressed in Liver, secretome (58.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTO1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MTO1 Gene:

MTO1

SOURCE GeneReport for Unigene cluster for MTO1 Gene:

Hs.347614

mRNA Expression by UniProt/SwissProt for MTO1 Gene:

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

Evidence on tissue expression from TISSUES for MTO1 Gene

  • Spleen(4.3)
  • Nervous system(3.6)
  • Intestine(2.3)
  • Muscle(2.1)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTO1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • adrenal gland
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with MTO1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for MTO1 Gene

Orthologs for MTO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTO1 33
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia MTO1 33 34
  • 89.55 (n)
cow
(Bos Taurus)
Mammalia MTO1 34 33
  • 89.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mto1 16 34 33
  • 84.81 (n)
rat
(Rattus norvegicus)
Mammalia Mto1 33
  • 84.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MTO1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTO1 33 34
  • 70.68 (n)
lizard
(Anolis carolinensis)
Reptilia MTO1 34
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mto1 34 33
  • 55.57 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4610 35 33 34
  • 57.17 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007661 33
  • 55.36 (n)
worm
(Caenorhabditis elegans)
Secernentea F52H3.2 35 33 34
  • 54.63 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00935g 33
  • 53.19 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTO1 33 34
  • 52.56 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR255W 33
  • 50.54 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G13440 33
  • 49.95 (n)
soybean
(Glycine max)
eudicotyledons Gma.7119 33
rice
(Oryza sativa)
Liliopsida Os01g0960300 33
  • 49.73 (n)
Os.37762 33
bread mold
(Neurospora crassa)
Ascomycetes NCU11170 33
  • 51.01 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC30B4.06c 33
  • 50.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToOne
Species where no ortholog for MTO1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MTO1 Gene

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

Paralogs for MTO1 Gene

genes like me logo Genes that share paralogs with MTO1: view

No data available for Paralogs for MTO1 Gene

Variants for MTO1 Gene

Sequence variations from dbSNP and Humsavar for MTO1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs143747297 Pathogenic, Combined oxidative phosphorylation deficiency 10 (COXPD10) [MIM:614702] 73,482,061(+) TCAAC(A/G)CCAGT intron-variant, nc-transcript-variant, reference, missense
rs201544686 Pathogenic 73,482,209(+) ACTGC(A/G)CCCTG intron-variant, nc-transcript-variant, reference, missense
rs397518449 Pathogenic 73,497,837(+) TATCA(-/A)GGGAT intron-variant, nc-transcript-variant, reference, frameshift-variant
rs398122419 Pathogenic 73,480,777(+) TGGCA(C/T)CACTG nc-transcript-variant, reference, missense
rs139334277 Likely benign 73,473,449(+) GGAGA(C/T)GCATC intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MTO1 Gene

Variant ID Type Subtype PubMed ID
esv2676283 CNV deletion 23128226
esv2763576 CNV gain 21179565
esv3576177 CNV gain 25503493
esv3609511 CNV loss 21293372
nsv1120157 OTHER inversion 24896259
nsv473211 CNV novel sequence insertion 20440878
nsv823733 CNV loss 20364138
nsv830693 CNV loss 17160897

Variation tolerance for MTO1 Gene

Residual Variation Intolerance Score: 9.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTO1 Gene

Human Gene Mutation Database (HGMD)
MTO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTO1 Gene

Disorders for MTO1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MTO1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 10
  • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency
optic nerve sheath meningioma
  • meningioma of optic nerve sheath
optic nerve neoplasm
  • neoplasm of optic nerve
lactic acidosis
  • acidosis lactic
optic nerve glioma
  • glioma of the optic nerve
- elite association - COSMIC cancer census association via MalaCards
Search MTO1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTO1_HUMAN
  • 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. {ECO:0000269 PubMed:22608499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MTO1

Genetic Association Database (GAD)
MTO1
Human Genome Epidemiology (HuGE) Navigator
MTO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTO1
genes like me logo Genes that share disorders with MTO1: view

No data available for Genatlas for MTO1 Gene

Publications for MTO1 Gene

  1. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. (PMID: 22608499) Ghezzi D … Zeviani M (American journal of human genetics 2012) 2 3 4 60
  2. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment. (PMID: 19338775) de Moraes VC … Sartorato EL (Biochemical and biophysical research communications 2009) 3 22 45 60
  3. Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation. (PMID: 12011058) Li X … Guan MX (The Journal of biological chemistry 2002) 2 3 4 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  5. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PMID: 19209188) Reiling E … Dekker JM (European journal of human genetics : EJHG 2009) 3 45 60

Products for MTO1 Gene

Sources for MTO1 Gene

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