Identity
HGNC
LOCATION
22q13.31
LOCUSID
ALIAS
LCAL3,MTO2,MTU1,TRMT,TRMT1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55687
MIM: 610230
HGNC: 25481
Ensembl: ENSG00000100416
Variants:
dbSNP: 55687
ClinVar: 55687
TCGA: ENSG00000100416
COSMIC: TRMU
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Gene Expression | REACTOME | R-HSA-74160 |
| tRNA processing | REACTOME | R-HSA-72306 |
| tRNA modification in the mitochondrion | REACTOME | R-HSA-6787450 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38113276 | 2024 | Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP). | 0 |
| 38113276 | 2024 | Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP). | 0 |
| 36305855 | 2023 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | 4 |
| 36305855 | 2023 | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | 4 |
| 35467742 | 2022 | Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients. | 9 |
| 35467742 | 2022 | Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients. | 9 |
| 33431792 | 2021 | Mtu1 defects are correlated with reduced osteogenic differentiation. | 4 |
| 33485800 | 2021 | TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. | 5 |
| 33431792 | 2021 | Mtu1 defects are correlated with reduced osteogenic differentiation. | 4 |
| 33485800 | 2021 | TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. | 5 |
| 30205178 | 2019 | Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss. | 7 |
| 30205178 | 2019 | Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss. | 7 |
| 28049726 | 2017 | Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation. | 33 |
| 28049726 | 2017 | Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation. | 33 |
| 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. | 31 |
Citation
Dessen P
TRMU (tRNA mitochondrial 2-thiouridylase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75203/trmu-(trna-mitochondrial-2-thiouridylase)
