Property Summary

NCBI Gene PubMed Count 21
PubMed Score 246.66
PubTator Score 13.60

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 1.300 5.0e-07
psoriasis 1.200 1.1e-03
osteosarcoma -1.557 2.6e-06
medulloblastoma, large-cell 1.100 1.3e-03
pancreatic ductal adenocarcinoma liver m... -1.039 4.0e-03
primary Sjogren syndrome 1.200 2.2e-03
ovarian cancer -1.500 7.0e-06

Gene RIF (12)

PMID Text
26061759 Optic neuropathy, cardiomyopathy, and cognitive disability was found in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
25552653 MTO1 mediates tRNA modification and controls mitochondrial translation rate in a highly tissue-specific manner associated with tissue-specific oxidative phosphorylation defects.
25149473 Results show that post-transcriptional expression of GTPBP3, MTO1 and TRMU genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids.
24160266 Nuclear-encoded mitochondrial MTO1 and MRPL41 are regulated in an opposite epigenetic mode based on estrogen receptor status in breast cancer.
23929671 MTO1 mutations are commonly associated with a presentation of hypertrophic cardiomyopathy, lactic acidosis, and MRC deficiency.
22608499 MTO1 mutations have roles in hypertrophic cardiomyopathy and lactic acidosis
20877624 Observational study of gene-disease association. (HuGE Navigator)
19338775 Observational study of gene-disease association. (HuGE Navigator)
19209188 Meta-analysis of gene-disease association. (HuGE Navigator)
18391568 proposed linkage in chromosome 8 and the association with TRMU and MTO1 genes were studied in A1555G deafness
15542390 Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.
12011058 identification of full-length cDNA and elucidation of genomic organization of the human MTO1 homolog

AA Sequence

MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVD      1 - 70
TIGQMSCNPSFGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQK     71 - 140
EILNTPLLTVQEGAVEDLILTEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPA    141 - 210
GRLGDQPSIGLAQTLEKLGFVVGRLKTGTPPRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQL    211 - 280
PCYLTHTNPRVDEIVLKNLHLNSHVKETTRGPRYCPSIESKVLRFPNRLHQVWLEPEGMDSDLIYPQGLS    281 - 350
MTLPAELQEKMITCIRGLEKAKVIQPDGVLLLLPRMECNGAISAHHNLPLPGYGVQYDYLDPRQITPSLE    351 - 420
THLVQRLFFAGQINGTTGYEEAAAQGVIAGINASLRVSRKPPFVVSRTEGYIGVLIDDLTTLGTSEPYRM    421 - 490
FTSRVEFRLSLRPDNADSRLTLRGYKDAGCVSQQRYERACWMKSSLEEGISVLKSIEFLSSKWKKLIPEA    491 - 560
SISTSRSLPVRALDVLKYEEVDMDSLAKAVPEPLKKYTKCRELAERLKIEATYESVLFHQLQEIKGVQQD    561 - 630
EALQLPKDLDYLTIRDVSLSHEVREKLHFSRPQTIGAASRIPGVTPAAIINLLRFVKTTQRRQSAMNESS    631 - 700
KTDQYLCDADRLQEREL                                                         701 - 717
//

Text Mined References (24)

PMID Year Title
26061759 2015 Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
25552653 2015 MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.
25149473 2015 The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.
24160266 2013 Nuclear-encoded mitochondrial MTO1 and MRPL41 are regulated in an opposite epigenetic mode based on estrogen receptor status in breast cancer.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23929671 2013 MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22608499 2012 Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19338775 2009 Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
19209188 2009 Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
18391568 2008 Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
15901843 2005 Alu-SINE exonization: en route to protein-coding function.
15542390 2004 Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.
15509579 2005 Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12939650 2003 Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12011058 2002 Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation.
10810093 2000 Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.