TRMT1 (tRNA methyltransferase 1)

2014-11-01  

Identity

HGNC
LOCATION
19p13.13
LOCUSID
ALIAS
MRT68,TRM1

Other Information

Locus ID:

NCBI: 55621
MIM: 611669
HGNC: 25980
Ensembl: ENSG00000104907

Variants:

dbSNP: 55621
ClinVar: 55621
TCGA: ENSG00000104907
COSMIC: TRMT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104907ENST00000221504Q9NXH9
ENSG00000104907ENST00000357720Q9NXH9
ENSG00000104907ENST00000357720A0A024R7I5
ENSG00000104907ENST00000437766Q9NXH9
ENSG00000104907ENST00000437766A0A024R7I5
ENSG00000104907ENST00000586224K7ERR5
ENSG00000104907ENST00000587487K7EJX9
ENSG00000104907ENST00000587633K7EMZ2
ENSG00000104907ENST00000588229K7EQU7
ENSG00000104907ENST00000588746K7EQY6
ENSG00000104907ENST00000591717K7ENI9
ENSG00000104907ENST00000592062Q9NXH9
ENSG00000104907ENST00000592062A0A024R7I5
ENSG00000104907ENST00000592814K7EQQ8

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA modification in the nucleus and cytosolREACTOMER-HSA-6782315

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
287847182017TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival.19
263089142015The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.15
302896042018Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.1

Citation

Dessen P

TRMT1 (tRNA methyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75193/trmt1