Enaptin also known as nesprin-1 or synaptic nuclear envelope protein 1 (syne-1) is an actin-binding
protein that in humans that is encoded by the SYNE1
gene.[5]
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.[5]
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
collagen. The protein is made up of three main parts, as can be seen in the diagram:
cytoplasmic (1-8746), anchor for type IV
membrane protein (8747-8767), and the sequence for
perinuclear space (8768-8797). The region in the perinuclear space contains a
KASH domain.
The
molecular weight of the mature protein is approximately 1,011
kDa, and it has a theoretical
pI of 5.38.[6] The protein's
chemical formula is C44189H71252N12428O14007S321. It has a theoretical
Instability Index (II) of 51.63, indicating that it would be unstable in a
test tube. The protein's
in vivohalf-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
mammalianreticulocytes).[7]
Clinical significance
Mutations in this gene have been associated with autosomal recessive
spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce.[5]
Enaptin also known as nesprin-1 or synaptic nuclear envelope protein 1 (syne-1) is an actin-binding
protein that in humans that is encoded by the SYNE1
gene.[5]
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.[5]
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
collagen. The protein is made up of three main parts, as can be seen in the diagram:
cytoplasmic (1-8746), anchor for type IV
membrane protein (8747-8767), and the sequence for
perinuclear space (8768-8797). The region in the perinuclear space contains a
KASH domain.
The
molecular weight of the mature protein is approximately 1,011
kDa, and it has a theoretical
pI of 5.38.[6] The protein's
chemical formula is C44189H71252N12428O14007S321. It has a theoretical
Instability Index (II) of 51.63, indicating that it would be unstable in a
test tube. The protein's
in vivohalf-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
mammalianreticulocytes).[7]
Clinical significance
Mutations in this gene have been associated with autosomal recessive
spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce.[5]