Identity
HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
COXPD35,GRO1,IPPT,IPT,IPTase,MOD5,hGRO1
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: 54802
MIM: 617840
HGNC: 20286
Ensembl: ENSG00000043514
Variants:
dbSNP: 54802
ClinVar: 54802
TCGA: ENSG00000043514
COSMIC: TRIT1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36047296 | 2022 | TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels. | 3 |
| 36049610 | 2022 | TRIT1 deficiency: Two novel patients with four novel variants. | 1 |
| 36047296 | 2022 | TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels. | 3 |
| 36049610 | 2022 | TRIT1 deficiency: Two novel patients with four novel variants. | 1 |
| 34768885 | 2021 | The Effect of tRNA([Ser]Sec) Isopentenylation on Selenoprotein Expression. | 6 |
| 34768885 | 2021 | The Effect of tRNA([Ser]Sec) Isopentenylation on Selenoprotein Expression. | 6 |
| 32324744 | 2020 | Targeting mitochondrial and cytosolic substrates of TRIT1 isopentenyltransferase: Specificity determinants and tRNA-i6A37 profiles. | 10 |
| 32324744 | 2020 | Targeting mitochondrial and cytosolic substrates of TRIT1 isopentenyltransferase: Specificity determinants and tRNA-i6A37 profiles. | 10 |
| 27984194 | 2017 | The human tRNA-modifying protein, TRIT1, forms amyloid fibers in vitro. | 7 |
| 28185376 | 2017 | Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. | 18 |
| 27984194 | 2017 | The human tRNA-modifying protein, TRIT1, forms amyloid fibers in vitro. | 7 |
| 28185376 | 2017 | Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. | 18 |
| 25261850 | 2015 | The cytoplasmic and nuclear populations of the eukaryote tRNA-isopentenyl transferase have distinct functions with implications in human cancer. | 12 |
| 25261850 | 2015 | The cytoplasmic and nuclear populations of the eukaryote tRNA-isopentenyl transferase have distinct functions with implications in human cancer. | 12 |
| 24901367 | 2014 | Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. | 75 |
Citation
Dessen P
TRIT1 (tRNA isopentenyltransferase 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-11-01
Online version: http://atlasgeneticsoncology.org/gene/53605/trit1-(trna-isopentenyltransferase-1)
