TRMU (tRNA mitochondrial 2-thiouridylase)

2014-11-01  

Identity

HGNC
TRMU
LOCATION
22q13.31
LOCUSID
55687
ALIAS
LCAL3,MTO2,MTU1,TRMT,TRMT1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55687
MIM: 610230
HGNC: 25481
Ensembl: ENSG00000100416

Variants:

dbSNP: 55687
ClinVar: 55687
TCGA: ENSG00000100416
COSMIC: TRMU

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100416ENST00000381019O75648
ENSG00000100416ENST00000381021Q2PPL5
ENSG00000100416ENST00000441818Q2PPL5
ENSG00000100416ENST00000453630Q2PPL5
ENSG00000100416ENST00000456595Q2PPL5
ENSG00000100416ENST00000457572O75648
ENSG00000100416ENST00000642562A0A2R8YDK3
ENSG00000100416ENST00000642923A0A2R8Y4R7
ENSG00000100416ENST00000643137A0A2R8Y6L6
ENSG00000100416ENST00000644006B4DZN5
ENSG00000100416ENST00000645190O75648
ENSG00000100416ENST00000647301A0A2R8YFQ3

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA modification in the mitochondrionREACTOMER-HSA-6787450

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381132762024Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP).0
381132762024Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP).0
363058552023Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.4
363058552023Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.4
354677422022Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.9
354677422022Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.9
334317922021Mtu1 defects are correlated with reduced osteogenic differentiation.4
334858002021TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.5
334317922021Mtu1 defects are correlated with reduced osteogenic differentiation.4
334858002021TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.5
302051782019Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss.7
302051782019Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss.7
280497262017Biochemical 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
280497262017Biochemical 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
251494732015The 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