Zurück zu Ihrem Suchergebnis

Beschreibung

Nesprin-1 (UniProt Q8NF91, also known as Enaptin, Myne-1, Myocyte nuclear envelope protein 1, Nuclear envelope spectrin repeat protein 1, Synaptic nuclear envelope protein 1, Syne-1) is encoded by the SYNE1 (also known as C6orf98, EDMD4, KIAA0796, KIAA1262, KIAA1756, MYNE1, SCAR8) gene (Gene ID 23345) in human. SYNE1 gene encodes multiple intracellular linker/scaffold molecules as a result of alternate start codons usage and splicings. Structurally, nesprins have a central rod domain composed of spectrin repeats. Nesprin-1 isoforms giant/4/5/6/7/10 and nesprin-2 isoforms giant/p32CH/NUANCE-N-33 have two N-terminal CH (calponin homology) domains that bind the actin cytoskeleton. Nesprin-1 isoforms giant/beta/alpha/4/beta 2/alpha 2/myne-1 and Nesprin-2 isoforms giant/2/epsilon2/beta1/alpha1/alpha2/gamma/beta2/FLJ56122/FLJ55476/epsilon1 contain a C-terminal transmembrane KASH (Klarsicht-ANC-Syne-homology) domain that resides in the outer nuclear membrane and bind across the luminal space to the SUN (Sad1, UNC84) type II inner nuclear membrane proteins, SUN1 and SUN2, to form LINC (Linker of Nucleoskeleton and Cytoskeleton) complexes that link the cytoskeleton and the nucleus. Human SYNE1 gene is among the top ten loci conferring risk for the five major psychiatric disorders, schizophrenia, bipolar disorder (BD), major depression, attention deficit-hyperactivity disorder (ADHD), and autism spectrum disorder (ASD), as well as multiple other neurological and neuromuscular disorders.