Enaptin

Enaptin also known as nesprin-1 or synaptic nuclear envelope protein 1 (syne-1) is a is_associated_with::protein that in humans that is encoded by the SYNE1 is_associated_with::gene.

Function
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane.

Enaptin is a is_associated_with::nuclear envelope is_associated_with::protein found in is_associated_with::human is_associated_with::myocytes and is_associated_with::synapses, which is made up of 8,797 is_associated_with::amino acids. Enaptin is involved in the maintenance of nuclear organization and structural integrity, tethering the cell nucleus to the is_associated_with::cytoskeleton by interacting with the nuclear envelope and with is_associated_with::F-actin in the is_associated_with::cytoplasm.

Structure
Enaptin contains a coiled alpha-helical region and a large beta-sheet region in the upper part and at least four alpha-helices spliced together, indicating the similarity with is_associated_with::collagen. The protein is made up of three main parts, as can be seen in the diagram: is_associated_with::cytoplasmic (1-8746), anchor for type IV is_associated_with::membrane protein (8747-8767), and the sequence for is_associated_with::perinuclear space (8768-8797). The region in the perinuclear space contains a is_associated_with::KASH domain.

The is_associated_with::molecular weight of the mature protein is approximately 1,011,041.95 Da, and it has a theoretical pI of 5.38. The protein's is_associated_with::chemical formula is C44189H71252N12428O14007S321. It has a theoretical is_associated_with::Instability Index (II) of 51.63, indicating that it would be unstable in a is_associated_with::test tube. The protein's is_associated_with::in vivo is_associated_with::half-life, the time it takes for half of the amount of protein in a cell to disappear after its synthesis in the cell, is predicted to be approximately 30 hours (in is_associated_with::mammalian is_associated_with::reticulocytes).

Clinical significance
Mutations in this gene have been associated with autosomal recessive is_associated_with::spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce.