Ask about this productRelated genes to: TRNT1 Blocking Peptide
- Gene:
- TRNT1 NIH gene
- Name:
- tRNA nucleotidyl transferase 1
- Previous symbol:
- -
- Synonyms:
- MtCCA, CGI-47, CCA1
- Chromosome:
- 3p26.2
- Locus Type:
- gene with protein product
- Date approved:
- 2002-05-30
- Date modifiied:
- 2019-04-23
Related products to: TRNT1 Blocking Peptide
Related articles to: TRNT1 Blocking Peptide
- Intellectual disability with mild dysmorphic features may be attributed to perinatal complications such as neonatal hypoxia. However, chromosomal abnormalities may underlie these phenotypes. We report a case with rare copy number variants that are likely to have neurodevelopmental relevance. - Source: PubMed
Publication date: 2026/02/19
Rangel-Méndez Jorge ARubi-Castellanos RodrigoContreras-Capetillo SilvinaGonzález-Herrera LizbethPinto-Escalante Doris - Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD), a rare multisystemic syndrome, occurs due to loss-of-function mutations in the tRNA nucleotidyl transferase 1 () gene. This study reports the case of a 21-month-old female patient with SIFD and compound heterozygous mutations c.824T > A, p.Leu275X (a novel variant) and c.1246 A > G, p.Lys416Glu in gene. The patient had presented with recurrent fever since 10 days of age, along with vasculitis, systemic inflammation with elevated proinflammatory cytokines, decreased B-cell count, and failure to thrive. Furthermore, she did not respond to intravenous immunoglobulin (IVIG) treatment, but her condition stabilized with etanercept (a tumor necrosis factor [TNF] inhibitor) and corticosteroids therapy. In addition, this study includes a systematic review of the clinical presentations, genetic mutations, treatments, and outcomes of 75 patients with SIFD. The estimated 2-, 5-, and 10-year Kaplan–Meier survival probabilities for all patients were 88.45%, 76.67%, 68.84% for all patients; 82.40%, 58.86% and 44.85% for patients with onset age of ≤ 3 months; 70%, 40% and 26.68% for patients with seizures; 88.05%, 66.62% and 59.22% for patients with decreased B cell number; 50% and 33.33% for patients who received hematopoietic stem cell transplantation (HSCT), respectively (log-rank < 0.05). We concluded that younger age of onset of ≤ 3 months, seizures, and decreased B-cell count are significant poor prognostic factors for survival. Anti-TNF therapy early in life may stabilize patients with autoinflammatory phenotypes; however, the role of HSCT remains controversial. - Source: PubMed
Publication date: 2026/03/07
Su Tzu-HsuanLee Ni-ChungWang Li-ChiehChiang Bor-LuenYu Hsin-Hui - Pediatric Inflammatory Bowel Disease (IBD) is a chronic condition characterized by persistent intestinal inflammation in children. It often presents with distinct clinical phenotypes and is more frequently linked to rare monogenic variants affecting epithelial barrier function or mucosal immunity. Although over 100 genes are associated with monogenic IBD, their roles in the intestinal epithelium remain poorly defined. This study aimed to improve our understanding of epithelial dysfunction in early-onset IBD through molecular and cellular analyses to uncover patient-specific phenotypes and potential therapeutic targets. - Source: PubMed
Shojaei Jeshvaghani ZahraArgmann Carmende Vries Maaike Hvan Es Johan HCollen Lauren VKotlarz DanielSveen MiaComella Phillip HSnapper Scott BKlein ChristophSchadt Eric EClevers HansMokry MichalKuijk EwartNieuwenhuis Edward - Rare genetic diseases collectively affect millions of individuals. A common target of many rare diseases is the mitochondria, intracellular organelles that originated through endosymbiosis. Eukaryotic cells require related proteins to function both within the mitochondria and in the host cell. By analyzing N-terminal protein isoforms generated through alternative start codon selection, we identify hundreds of differentially localized isoform pairs, including dual-localized isoforms that are essential for both mitochondrial and host cell function. Subsets of dual mitochondria-localized isoforms emerged during early eukaryotic evolution, coinciding with mitochondrial endosymbiosis. Importantly, we identify dozens of rare disease alleles that affect these alternative protein variants with unique molecular and clinical consequences. Alternative start codon selection can bypass pathogenic nonsense and frameshift mutations, thereby selectively eliminating specific isoforms, which we term isoform-selective alleles (ISAs). Together, our findings illuminate the evolutionary and pathological relevance of alternative translation, offering insights into the molecular basis of rare human diseases. - Source: PubMed
Publication date: 2025/11/07
Ly JimmyDi Bernardo MatteoTao Yi FeiKhalizeva EkaterinaGiuliano Christopher JLourido SebastianFleming Mark DCheeseman Iain M - Current research on virus-host interactions primarily focuses on the transcription and translation of viral and host genes. However, there is a major knowledge gap between transcription and translation, known as translational decoding mediated by mature transfer RNAs (tRNAs) charged with amino acids. Codon usage analysis of seven human coronaviruses indicates that they are highly dissimilar from the human host. Quantification of the human tRNAome, consisting of 57 species, demonstrated that infections with these coronaviruses robustly upregulate the global tRNAome landscapes in host cells. Deprivation of individual amino acids or knockdown of TRNT1, the enzyme adding 3'-ACC terminal for tRNA aminoacylation, inhibited coronavirus infection. Integrative analysis of codon usage and the tRNAome landscape identified a prominent role of tRNA-Asn-AUU in translational decoding of different human coronaviruses. Deprivation of asparagine (Asn) or knockdown of Asparaginyl-tRNA Synthetase 1, an enzyme that charges the Asn amino acid onto tRNA-Asn acceptors, including tRNA-Asn-AUU, profoundly inhibited coronavirus 229E infection, but to a much lesser extent for NL63 and SARS-CoV-2. Collectively, we demonstrated that human coronaviruses are capable of remodeling the host mature tRNAome to facilitate infection. However, the regulatory patterns and sensitivities to interference, particularly at the single amino acid or tRNA levels, vary among different coronavirus species. These findings provide a new perspective for understanding virus-host interactions. - Source: PubMed
Publication date: 2025/10/28
Wang YiningWang XinAvan AmineLi PengfeiOu XuminPan Qiuwei