WARS1
Function
Catalyzes the attachment of tryptophan to tRNA(Trp) in a two-step reaction: tryptophan is first activated by ATP to form Trp-AMP and then transferred to the acceptor end of the tRNA(Trp).
Isoform 1
Has no angiostatic activity.
T2-TrpRS
Possesses an angiostatic activity but has no aminoacylation activity (PubMed:11773625, PubMed:11773626, PubMed:14630953). Inhibits fluid shear stress-activated responses of endothelial cells (PubMed:14630953). Regulates ERK, Akt, and eNOS activation pathways that are associated with angiogenesis, cytoskeletal reorganization and shear stress-responsive gene expression (PubMed:14630953).
Isoform 2
Has an angiostatic activity.
Involvement in disease
Neuronopathy, distal hereditary motor, autosomal dominant 9
HMND9
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMND9 is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs.
None
The disease may be caused by variants affecting the gene represented in this entry.
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
NEDMSBA
An autosomal recessive disorder apparent from early infancy and characterized by global developmental delay, delayed or absent walking, impaired intellectual development, poor or absent speech, and postnatal progressive microcephaly. Additional variable features include cortical visual impairment, seizures, hypotonia, spasticity, and sensorineural deafness. Brain anomalies including myelination defects, cortical atrophy, or thin corpus callosum are present in most patients.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Proteolytic cleavage generates 2 forms; T1-TrpRS and T2-TrpRS.
Sequence Similarities
Belongs to the class-I aminoacyl-tRNA synthetase family.
Cellular localization
- Cytoplasm
Alternative names
IFI53, WARS, WRS, WARS1, Interferon-induced protein 53, Tryptophanyl-tRNA synthetase, IFP53, TrpRS, hWRS