Tor1aip1

This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants.

Full Name

torsin A interacting protein 1

Function

Required for nuclear membrane integrity. Induces TOR1A and TOR1B ATPase activity and is required for their location on the nuclear membrane. Binds to A- and B-type lamins. Possible role in membrane attachment and assembly of the nuclear lamina.

Biological Process

Biological Process membrane organization Source:GO_Central1 Publication
Biological Process nuclear membrane organization Source:GO_Central1 Publication
Biological Process positive regulation of ATP-dependent activity Source:UniProtKB1 Publication
Biological Process protein localization to nuclear envelope Source:Ensembl
Biological Process protein localization to nucleus Source:UniProtKB

Cellular Location

Nucleus inner membrane

Involvement in disease

Myopathy, autosomal recessive, with rigid spine and distal joint contractures (MRRSDC):
An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life.

Topology

Nuclear: 1-338
Helical: 339-355
Perinuclear space: 356-583