Aliases for MTO1 Gene
Aliases for MTO1 Gene
External Ids for MTO1 Gene
- HGNC: 19261
- Entrez Gene: 25821
- Ensembl: ENSG00000135297
- OMIM: 614667
- UniProtKB: Q9Y2Z2
Previous GeneCards Identifiers for MTO1 Gene
- GC06P074129
- GC06P074167
- GC06P074228
- GC06P074171
- GC06P071369
Summaries 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. Gene Ontology (GO) annotations related to this gene include 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.
Additional gene information for MTO1 Gene
- Monarch Initiative
- Search for MTO1 at DataMed
- Search for MTO1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTO1 Gene
Genomics for MTO1 Gene
GeneHancer (GH) Regulatory Elements for MTO1 Gene
Promoters and enhancers for MTO1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around MTO1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for MTO1 Gene
Genomic Locations for MTO1 Gene
- chr6:73,461,578-73,509,236
- (GRCh38/hg38)
- Size:
- 47,659 bases
- Orientation:
- Plus strand
- chr6:74,171,301-74,218,959
- (GRCh37/hg19)
- 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:
-
- 6q13 by Entrez Gene
- 6q13 by HGNC
- 6q13 by Ensembl
MTO1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for MTO1 Gene
Post-translational modifications for MTO1 Gene
Other Protein References for MTO1 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MTO1
- Novus Biologicals Antibodies for MTO1
- Invitrogen Antibodies for MTO1 (AFLGC-MTO1)
- antibodies-online: Search results for available Mto1 related products ranked by validation data
- GeneTex MTO1 Antibody for MTO1
-
Boster Bio Antibodies for MTO1
-
Santa Cruz Biotechnology (SCBT) Antibodies for MTO1
Protein Products
-
OriGene Purified Proteins for MTO1
- Search Origene for MassSpec and Protein Over-expression Lysates for MTO1
- Origene Custom Protein Services for MTO1
- antibodies-online: Search results for available Mto1 related products ranked by validation data
- Search GeneTex for Proteins for MTO1
Assay Products
- antibodies-online: Search results for available Mto1 related products ranked by validation data
No data available for DME Specific Peptides for MTO1 Gene
Domains & Families for MTO1 Gene
Gene Families for MTO1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for MTO1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for MTO1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y2Z2- Family:
-
- Belongs to the MnmG family.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22681889 |
| GO:0050660 | flavin adenine dinucleotide binding | IBA,IEA | -- |
Phenotypes for MTO1 Gene
- MGI mutant phenotypes for MTO1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MTO1:
Animal Model Products
-
Taconic Biosciences Mouse Models for MTO1
- Cyagen custom Knockout/knockin (KOKI) mouse models for MTO1
-
CRISPR Products
-
OriGene CRISPR knockouts for MTO1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MTO1
- genomics-online: gRNA clones - Search results for available Mto1 gene related products
- Applied Biological Materials CRISPR for MTO1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MTO1
- GenScript: Design CRISPR guide RNA sequences for MTO1
miRNA for MTO1 Gene
- miRTarBase miRNAs that target MTO1
-
- hsa-mir-100-5p (MIRT048594)
- hsa-mir-5698 (MIRT617544)
- hsa-mir-744-3p (MIRT617545)
- hsa-mir-7641 (MIRT617546)
- hsa-mir-4423-5p (MIRT617547)
- hsa-mir-6501-5p (MIRT617548)
- hsa-mir-143-5p (MIRT617549)
- hsa-mir-4430 (MIRT617550)
- hsa-mir-3652 (MIRT617551)
- hsa-mir-122-5p (MIRT617552)
- hsa-mir-504-3p (MIRT617553)
- hsa-mir-3135b (MIRT617554)
- hsa-mir-6499-3p (MIRT617555)
- hsa-mir-4695-3p (MIRT617556)
- hsa-mir-367-5p (MIRT617557)
- hsa-mir-1267 (MIRT617558)
- hsa-mir-5693 (MIRT617559)
- hsa-mir-4742-3p (MIRT625220)
- hsa-mir-205-3p (MIRT625221)
- hsa-mir-603 (MIRT625222)
- hsa-mir-8485 (MIRT625223)
- hsa-mir-8055 (MIRT661695)
- hsa-mir-6864-3p (MIRT661696)
- hsa-mir-3672 (MIRT661697)
- hsa-mir-4790-5p (MIRT661698)
- hsa-mir-4524a-3p (MIRT661699)
- hsa-mir-4315 (MIRT661700)
- hsa-mir-5007-5p (MIRT661701)
- hsa-mir-6787-3p (MIRT661702)
- hsa-mir-6736-3p (MIRT661703)
- hsa-mir-6836-3p (MIRT661704)
- hsa-mir-5001-3p (MIRT661705)
- hsa-mir-891a-3p (MIRT661706)
- hsa-mir-6829-3p (MIRT661707)
- hsa-mir-6791-3p (MIRT661708)
- hsa-mir-6778-3p (MIRT661709)
- hsa-mir-4772-3p (MIRT661710)
- hsa-mir-660-3p (MIRT661711)
- hsa-mir-216a-5p (MIRT661712)
- hsa-mir-7151-3p (MIRT669934)
- hsa-mir-5095 (MIRT669935)
- hsa-mir-365b-5p (MIRT669936)
- hsa-mir-365a-5p (MIRT669937)
- hsa-mir-8052 (MIRT669938)
- hsa-mir-3199 (MIRT669939)
- hsa-mir-4438 (MIRT669940)
- hsa-mir-6805-3p (MIRT671276)
- hsa-mir-5691 (MIRT671277)
- hsa-mir-431-5p (MIRT671278)
- hsa-mir-3194-3p (MIRT671279)
- hsa-mir-129-5p (MIRT674111)
- hsa-mir-498 (MIRT683624)
- hsa-mir-6783-3p (MIRT683625)
- hsa-mir-1343-3p (MIRT683626)
- hsa-mir-23b-5p (MIRT683627)
- hsa-mir-23a-5p (MIRT683628)
- hsa-mir-6742-3p (MIRT683629)
- hsa-mir-6852-5p (MIRT683630)
- hsa-mir-132-3p (MIRT762536)
- hsa-mir-212-3p (MIRT763822)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MTO1
- Browse OriGene Inhibitory RNA Products For MTO1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTO1
- genomics-online: shRNA clones - Search results for available Mto1 gene related products
Clone Products
-
OriGene ORF clones in human for MTO1
- RC203738
- RC203738L1
- RC203738L2
- RC203738L3
- RC203738L4
- RC222884
- RC222884L1
- RC222884L2
- RC222884L3
- RC222884L4
- RC226122
- RC226122L1
- RC226122L2
- RC226122L3
- RC226122L4
- RC503738
- RG203738
- RG222884
- RG226122
- RC203738L1V
- RC203738L2V
- RC203738L3V
- RC203738L4V
- RC222884L1V
- RC222884L2V
- RC222884L3V
- RC222884L4V
- RC226122L1V
- RC226122L2V
- RC226122L3V
- RC226122L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MTO1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MTO1
- genomics-online: cdna clones - Search results for available Mto1 gene related products
- orf clones - Search results for available Mto1 gene related products
- Applied Biological Materials Clones for MTO1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MTO1
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 3 |
| cytosol | 2 |
| peroxisome | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IBA | -- |
Pathways & Interactions for MTO1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA processing |
.55
|
|
| 2 | Gene Expression |
.48
|
|
Pathways by source for MTO1 Gene
3 Reactome pathways for MTO1 Gene
Interacting Proteins for MTO1 Gene
GPS-Prot Interaction Network for MTO1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002098 | tRNA wobble uridine modification | IBA | -- |
| GO:0008033 | tRNA processing | IEA | -- |
| GO:0030488 | tRNA methylation | IBA | -- |
| GO:0070899 | mitochondrial tRNA wobble uridine modification | IBA | -- |
No data available for SIGNOR curated interactions for MTO1 Gene
Drugs & Compounds for MTO1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| FAD | Approved | Pharma | 0 |
Drug Products
Transcripts for MTO1 Gene
mRNA/cDNA for MTO1 Gene
- (3) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (204) Selected AceView cDNA sequences:
- (19) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000415954 2837 bps (uc010kav.4)
- ENST00000498286 10857 bps (uc003pgz.5)
- ENST00000442897 521 bps (uc063poc.1)
- ENST00000370305 2174 bps (uc003phb.5)
- ENST00000521032 574 bps (uc063pod.1)
Unigene Clusters for MTO1 Gene
- Mitochondrial translation optimization 1 homolog (S. cerevisiae):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MTO1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MTO1
- genomics-online: gRNA clones - Search results for available Mto1 gene related products
- Applied Biological Materials CRISPR for MTO1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MTO1
- GenScript: Design CRISPR guide RNA sequences for MTO1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MTO1
- Browse OriGene Inhibitory RNA Products For MTO1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTO1
- genomics-online: shRNA clones - Search results for available Mto1 gene related products
Clone Products
-
OriGene ORF clones in human for MTO1
- RC203738
- RC203738L1
- RC203738L2
- RC203738L3
- RC203738L4
- RC222884
- RC222884L1
- RC222884L2
- RC222884L3
- RC222884L4
- RC226122
- RC226122L1
- RC226122L2
- RC226122L3
- RC226122L4
- RC503738
- RG203738
- RG222884
- RG226122
- RC203738L1V
- RC203738L2V
- RC203738L3V
- RC203738L4V
- RC222884L1V
- RC222884L2V
- RC222884L3V
- RC222884L4V
- RC226122L1V
- RC226122L2V
- RC226122L3V
- RC226122L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MTO1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MTO1
- genomics-online: cdna clones - Search results for available Mto1 gene related products
- orf clones - Search results for available Mto1 gene related products
- Applied Biological Materials Clones for MTO1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for MTO1 Gene
This gene is overexpressed in Liver, secretome (58.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTO1 Gene
NURSA nuclear receptor signaling pathways regulating expression of MTO1 Gene:
MTO1SOURCE GeneReport for Unigene cluster for MTO1 Gene:
Hs.347614mRNA 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
Regions:
Head and neck:
- brain
- ear
- head
Thorax:
- heart
- heart valve
Abdomen:
- adrenal gland
General:
- peripheral nerve
- peripheral nervous system
- skin
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for MTO1
-
OriGene qPCR primer pairs and template standards for MTO1
- genomics-online: primer clones - Search results for available Mto1 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MTO1 33 |
|
||
| dog (Canis familiaris) |
Mammalia | MTO1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MTO1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mto1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mto1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | MTO1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MTO1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MTO1 34 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | mto1 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG4610 34 35 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007661 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | F52H3.2 34 35 33 |
|
OneToOne | |
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A00935g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MTO1 34 33 |
|
OneToOne | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFR255W 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT2G13440 33 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.7119 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0960300 33 |
|
||
| Os.37762 33 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU11170 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC30B4.06c 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MTO1: view image
Paralogs for MTO1 Gene
(5) SIMAP similar genes for MTO1 Gene using alignment to 9 proteins:
- MTO1_HUMAN
- E5RFF7_HUMAN
- E7EWI1_HUMAN
- E7EWX0_HUMAN
- E9PHR8_HUMAN
- H0YB81_HUMAN
- H0YBI9_HUMAN
- H0YC00_HUMAN
- H7C2S9_HUMAN
No data available for Paralogs for MTO1 Gene
Variants for MTO1 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1033653237 | likely-pathogenic, Combined oxidative phosphorylation deficiency 10 | 73,482,208(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs1060499776 | likely-pathogenic, Abnormality of brain morphology | 73,497,766(+) | T/A | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs1060504378 | likely-benign, Combined oxidative phosphorylation deficiency 10 | 73,480,059(+) | A/C | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs115654622 | benign, not specified, Combined oxidative phosphorylation deficiency 10 | 73,482,147(+) | T/C | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs117757245 | benign, not specified, Combined oxidative phosphorylation deficiency 10 | 73,497,873(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant |
| 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 |
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)
Additional Variant Information for MTO1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTO1 Gene
Disorders for MTO1 Gene
(6) MalaCards diseases for MTO1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| combined oxidative phosphorylation deficiency 10 |
|
|
| optic nerve sheath meningioma |
|
|
| optic nerve neoplasm |
|
|
| lactic acidosis |
|
|
| optic nerve glioma |
|
|
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.
Additional Disease Information for MTO1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MTO1 Gene
Publications for MTO1 Gene
- 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 58
- 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 44 58
- 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 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- 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 44 58
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Sources for MTO1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (14) ProtoNet
- (15) Blocks
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- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
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- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
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- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
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- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
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- (107) ProteomicsDB
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- (114) diseasecard
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