Recombinant Human CCA tRNA nucleotidyltransferase 1, mitochondrial (TRNT1)

Uniprot Id

Q96Q11

Target Species

Human

Target Name

TRNT1

Target Full Name

CCA tRNA nucleotidyltransferase 1, mitochondrial

Target Function

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.; Adds 2 C residues (CC-) to the 3' terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro).

Target Involvement

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD); Retinitis pigmentosa and erythrocytic microcytosis (RPEM)

Target Subcellular Location

Mitochondrion.

Target Protein Families

TRNA nucleotidyltransferase/poly(A) polymerase family

Target Synonyms

TRNT1; CGI-47; CCA tRNA nucleotidyltransferase 1; mitochondrial; EC 2.7.7.72; Mitochondrial tRNA nucleotidyl transferase; CCA-adding; mt CCA-adding enzyme; mt tRNA CCA-diphosphorylase; mt tRNA CCA-pyrophosphorylase; mt tRNA adenylyltransferase

Target Background

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.