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: 51095
MIM: 612907
HGNC: 17341
Ensembl: ENSG00000072756
Variants:
dbSNP: 51095
ClinVar: 51095
TCGA: ENSG00000072756
COSMIC: TRNT1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37239403 | 2023 | TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins. | 0 |
| 37239403 | 2023 | TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins. | 0 |
| 34510712 | 2022 | A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. | 4 |
| 34864548 | 2022 | Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus. | 0 |
| 34510712 | 2022 | A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. | 4 |
| 34864548 | 2022 | Genes for tRNA recycling are upregulated in response to infection with Theiler's mouse encephalitis virus. | 0 |
| 34310935 | 2021 | Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene. | 4 |
| 34310935 | 2021 | Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene. | 4 |
| 30758723 | 2019 | Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. | 8 |
| 30959222 | 2019 | Analysis of the pathogenic I326T variant of human tRNA nucleotidyltransferase reveals reduced catalytic activity and thermal stability in vitro linked to a conformational change. | 3 |
| 31512554 | 2019 | Exploration of CCA-added RNAs revealed the expression of mitochondrial non-coding RNAs regulated by CCA-adding enzyme. | 6 |
| 30758723 | 2019 | Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency. | 8 |
| 30959222 | 2019 | Analysis of the pathogenic I326T variant of human tRNA nucleotidyltransferase reveals reduced catalytic activity and thermal stability in vitro linked to a conformational change. | 3 |
| 31512554 | 2019 | Exploration of CCA-added RNAs revealed the expression of mitochondrial non-coding RNAs regulated by CCA-adding enzyme. | 6 |
| 29358286 | 2018 | Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. | 17 |
Citation
Dessen P
TRNT1 (tRNA nucleotidyl transferase 1)
Atlas Genet Cytogenet Oncol Haematol. 2021-06-01
Online version: http://atlasgeneticsoncology.org/gene/58353/trnt1-(trna-nucleotidyl-transferase-1)
