Enaptin

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SYNE1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SYNE1, 8B, ARCA1, C6orf98, CPG2, EDMD4, MYNE1, Nesp1, SCAR8, dJ45H2.2, spectrin repeat containing nuclear envelope protein 1, KASH1
External IDs MGI: 1927152 HomoloGene: 52329 GeneCards: SYNE1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001079686
NM_022027
NM_153399
NM_001347711
NM_001347732

RefSeq (protein)

NP_001334630
NP_001334631
NP_149062
NP_892006

Location (UCSC) Chr 6: 152.12 – 152.64 Mb Chr 10: 5.02 – 5.55 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Enaptin also known as nesprin-1 or synaptic nuclear envelope protein 1 (syne-1) is a protein that in humans that is encoded by the SYNE1 gene.[3]

Function[edit]

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane.[3]

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

Structure[edit]

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.[4] 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 vivo 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 mammalian reticulocytes).[5]

Clinical significance[edit]

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.[3]

References[edit]

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.