Aliases for TRNT1 Gene
External Ids for TRNT1 Gene
Previous GeneCards Identifiers 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 congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome and sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay. Among its related pathways are Gene Expression and RNA transport. GO annotations related to this gene include RNA binding and 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).