Torsin 3A (TOR3A)

The deduced 397-amino acid protein, which they called ADIR1, has a calculated molecular mass of about 46 kD. ADIR1 contains a hydrophobic N-terminal sequence and an ATP-binding domain with typical A, B, and box IV motifs. It has 8 potential phosphorylation sites, including a phosphokinase C phosphorylation site associated with the A motif, and an N-glycosylation site. ADIR shares 70% amino acid identity with mouse Adir and 38% identity with torsin A. Northern blot analysis revealed a 2.3-kb transcript in all tissues tested. Placenta also expressed a 1.25-kb transcript representing ADIR2. Dot blot analysis of mRNA indicated highest expression in stomach, salivary glands, and lymph nodes. Fluorescence-tagged ADIR colocalized with an endoplasmic reticulum marker in transfected HeLa cells.