TARS1
Function
Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr) (PubMed:25824639, PubMed:31374204). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage (By similarity).
Involvement in disease
Trichothiodystrophy 7, non-photosensitive
TTD7
A form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD7 patients do not manifest cutaneous photosensitivity. They have cysteine- and threonine-deficient hair with alternating light and dark 'tiger-tail' banding pattern observed under polarization microscopy. Inheritance pattern is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
ISGylated.
Sequence Similarities
Belongs to the class-II aminoacyl-tRNA synthetase family.
Cellular localization
- Cytoplasm
Alternative names
TARS, TARS1, Threonyl-tRNA synthetase, Threonyl-tRNA synthetase 1, ThrRS