Aliases for TRNT1 Gene
- TRNA Nucleotidyl Transferase, CCA-Adding, 1 2 3
- Mt TRNA CCA-Pyrophosphorylase 3 4
- Mt TRNA CCA-Diphosphorylase 3 4
- Mt TRNA Adenylyltransferase 3 4
- Mt CCA-Adding Enzyme 3 4
- Mitochondrial TRNA Nucleotidyl Transferase, CCA-Adding 4
- Mitochondrial CCA-Adding TRNA-Nucleotidyltransferase 3
- CCA TRNA Nucleotidyltransferase 1, Mitochondrial 3
External Ids for TRNT1 Gene
The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
GeneCards Summary for TRNT1 Gene
TRNT1 (TRNA Nucleotidyl Transferase, CCA-Adding, 1) is a Protein Coding gene. Diseases associated with TRNT1 include sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and deafness, mitochondrial, modifier of. Among its related pathways are RNA transport. GO annotations related to this gene include tRNA binding and tRNA nucleotidyltransferase activity.
UniProtKB/Swiss-Prot for TRNT1 Gene
Isoform 1: Adds and repairs the conserved 3-CCA sequence necessary for the attachment of amino acids to the 3 terminus of tRNA molecules, using CTP and ATP as substrates
Isoform 2: Adds 2 C residues (CC-) to the 3 terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro).