TRNT1, Official Symbol TRNT1provided by HGNC Official Full Name tRNA nucleotidyl transferase 1provided by HGNC Primary source HGNC:HGNC:17341 See related Ensembl:ENSG00000072756 MIM:612907; AllianceGenome:HGNC:17341 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CCA1; RPEM; SIFD; MtCCA; CGI-47 Summary 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] Expression Ubiquitous expression in prostate (RPKM 8.6), testis (RPKM 7.5) and 25 other tissues See more Orthologs mouse all