Property Summary

NCBI Gene PubMed Count 21
Grant Count 23
R01 Count 10
Funding $1,302,159.71
PubMed Score 138.43
PubTator Score 25.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
osteosarcoma -1.635 0.009
group 3 medulloblastoma 2.300 0.000
medulloblastoma, large-cell 1.800 0.000
primitive neuroectodermal tumor 1.300 0.021
Atopic dermatitis 1.100 0.000
lung cancer 1.400 0.000

Gene RIF (13)

PMID Text
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.
22504945 An additional, heterozygous mutation was detected in TRMU/MTU1. Although subject myoblasts and myotubes contained half the normal levels of TRMU, thiolation of mitochondrial tRNAs was normal.
21890497 MTU1 is not required for mitochondrial translation.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19732863 There is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure.
19338775 Observational study of gene-disease association. (HuGE Navigator)
19209188 Meta-analysis of gene-disease association. (HuGE Navigator)
18391568 TRMU G28T single nucleotide polymorphism is present in 1 of the studied families for neurosensory nonsyndromic deafness
16826519 The mutated TRMU, related to transfer RNA modification, acting as a modifier factor modulates the phenotypic manifestation of deafness-associated 12S rRNA mutations.
16513084 These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA mutations.
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AA Sequence

MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQ      1 - 70
VSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFE     71 - 140
QKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLH    141 - 210
HVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVV    211 - 280
EKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDG    281 - 350
TVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPL    351 - 420
L//

Text Mined References (23)

PMID Year Title
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.
23510774 2013 Nuclear factors: roles related to mitochondrial deafness.
22504945 2012 A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
21890497 2011 The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.
21153446 2011 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19732863 2009 Acute infantile liver failure due to mutations in the TRMU gene.
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.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
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