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TRNT1

Function

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).

Involvement in disease

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

SIFD

An autosomal recessive disease characterized by severe sideroblastic anemia with onset in the neonatal period or infancy, recurrent periodic fevers without an infectious etiology, B-cell lymphopenia and hypogammaglobulinemia. Affected individuals show delayed psychomotor development with variable neurodegeneration. Additional variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.

None

The disease is caused by variants affecting the gene represented in this entry.

Retinitis pigmentosa and erythrocytic microcytosis

RPEM

An autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family.

Cellular localization

  • Mitochondrion

Alternative names

  • mt CCA-adding enzyme
  • mt tRNA CCA-diphosphorylase
  • mt tRNA CCA-pyrophosphorylase
  • mt tRNA adenylyltransferase
  • CGI-47
  • TRNT1

Target type

Proteins

Molecular weight

50128Da