Property Summary

NCBI Gene PubMed Count 21
Grant Count 6
R01 Count 6
Funding $567,791.2
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 0.000
psoriasis 1.200 0.001
osteosarcoma -1.557 0.000
medulloblastoma, large-cell 1.100 0.001
pancreatic ductal adenocarcinoma liver m... -1.039 0.004
primary Sjogren syndrome 1.200 0.002
ovarian cancer -1.500 0.000

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
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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.
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