Nesprin 1 (Nesp1)

SYNE1; C6orf98; 8B; MYNE1; CPG2; SCAR8; ARCA1; Enaptin; Myocyte nuclear envelope protein 1; Nuclear envelope spectrin repeat protein 1; Synaptic nuclear envelope protein 1

SPN	Q852
HGNC	17089
MGI	1927152
PubMed	11792814
RGD	620546
UniProt	Q8NF91
Wiki	Nesprin-1

Enaptin is a nuclear envelope protein found in human myocytes and synapses, which is made up of 8,797 amino acids. Post-translational amino acid modifications can be possible. 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 has a remarkable structure with 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 structural integrity of Enaptin can be shown by determining whether the protein forms a condensed supramolecule.

Reference

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Int. J. Cancer 123:2048-2056(2008) [PubMed] [Europe PMC] [Abstract]

"Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton."
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Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 39:80-85(2007) [PubMed] [Europe PMC] [Abstract]

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BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

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Int. J. Cell Biol. 2012:736524-736524(2012) [PubMed] [Europe PMC] [Abstract]

"Large-scale modelling of the divergent spectrin repeats in nesprins: giant modular proteins."
PLoS ONE 8:E63633-E63633(2013) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

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Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity."
Hum. Mol. Genet. 16:2816-2833(2007) [PubMed] [Europe PMC] [Abstract]

"Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing."
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