Enaptin

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 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.

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.{{cite web | url = http://web.expasy.org/cgi-bin/compute_pi/pi_tool1?Q8NF91@noft@ | title = Compute pI/Mw for SYNE1_HUMAN (Q8NF91) | work = ExPASy | publisher = Swiss Institute of Bioinformatics }} 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).{{cite web | url = https://web.expasy.org/cgi-bin/protparam/protparam1?Q8NF91@noft@ | title = ProtParam for SYNE1_HUMAN (Q8NF91) | work = ExPASy | publisher = Swiss Institute of Bioinformatics }}

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.

{{Reflist}}

{{refbegin}}

• {{cite journal | vauthors = Zhang Q, Skepper JN, Yang F, Davies JD, Hegyi L, Roberts RG, Weissberg PL, Ellis JA, Shanahan CM | title = Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues | journal = J. Cell Sci. | volume = 114 | issue = Pt 24 | pages = 4485–98 |date=December 2001 | doi = 10.1242/jcs.114.24.4485 | pmid = 11792814 |doi-access=free| url = https://journals.biologists.com/jcs/article-pdf/114/24/4485/1359024/4485.pdf }}
• {{cite journal | vauthors = Grady RM, Starr DA, Ackerman GL, Sanes JR, Han M | title = Syne proteins anchor muscle nuclei at the neuromuscular junction | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 102 | issue = 12 | pages = 4359–64 |date=March 2005 | pmid = 15749817 | pmc = 555524 | doi = 10.1073/pnas.0500711102 | doi-access = free }}

{{refend}}

• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=syne1ca-ar GeneReview/NCBI/NIH/UW entry on SYNE1-Related Autosomal Recessive Cerebellar Ataxia]
• {{PDBe-KB2|Q8NF91|Nesprin-1}}

{{NLM content }}

Category:Proteins