nesprin-1; enaptin; myocyte nuclear envelope protein 1; Myne-1; nuclear envelope spectrin repeat protein 1; synaptic nuclear envelope protein 1; syne-1 (SYNE1, C6orf98, KIAA0796, KIAA1262, KIAA1756 MYNE1)

Function: - multi-isomeric modular protein which forms a linking network between organelles & the actin cytoskeleton to maintain the subcellular spatial organization - component of SUN-protein-containing multivariate complexes - involved in the maintenance of nuclear organization & structural integrity - connects nuclei to the cytoskeleton by interacting with the nuclear envelope & with F-actin in the cytoplasm - required for centrosome migration to the apical cell surface during early ciliogenesis - dimer - interacts with MUSK, with F-actin via its N-terminal domain - interacts with EMD & LMNA in vitro Structure: - the KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting & is involved in the binding to SUN1 & SUN2 through recognition of their SUN domains - belongs to the nesprin family - contains 1 actin-binding domain - contains 2 CH (calponin-homology) domains - contains 12 HAT repeats - contains 1 KASH domain - contains 31 spectrin repeats Compartment: - nucleus outer membrane - single-pass type 4 membrane protein; cytoplasmic side (putative) - cytoplasm, cytoskeleton, myofibril, sarcomere - largest part of the protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane - in skeletal & smooth muscles, a significant amount is found in the sarcomeres Alternative splicing: named isoforms=9 Expression: - widely expressed - highly expressed in skeletal muscle & smooth muscle, heart, spleen, & peripheral blood leukocytes Pathology: - defects in SYNE1 are the cause of a) autosomal recessive spinocerebellar ataxia type 8 b) Emery-Dreifuss muscular dystrophy type 4

General

human longevity protein nesprin

Properties

SIZE: entity length = 8797 aa MW = 1011 kD COMPARTMENT: cytoplasm nuclear membrane MOTIF: actin-binding site SITE: 1-289 FOR-BINDING-OF: F-actin MOTIF: calponin homology domain NAME: calponin homology domain SITE: 27-134 calponin homology domain NAME: calponin homology domain SITE: 178-283 coiled coil {327-347} coiled coil {433-463} HAT {592-624} coiled coil {625-650} coiled coil {817-844} coiled coil {925-955} coiled coil {991-1011} HAT {1103-1135} coiled coil {1197-1217} coiled coil {1270-1447} MOTIF: Ser phosphorylation site {S1327} HAT {1425-1457} coiled coil {1549-1577} spectrin repeat {1630-1652} spectrin repeat {1655-1762} coiled coil {1810-1830} coiled coil {1899-1934} coiled coil {1969-2035} coiled coil {2086-2106} MOTIF: Tyr phosphorylation site {Y2091} coiled coil {2166-2270} MOTIF: HAT {2176-2208} spectrin repeat {2339-2405} MOTIF: Ser phosphorylation site {S2377} spectrin repeat {2406-2512} spectrin repeat {2515-2615} coiled coil {2606-2636} HAT {2705-2744} coiled coil {2780-2807} coiled coil {2944-2992} spectrin repeat {3173-3277} spectrin repeat {3348-3386} HAT {3361-3400} spectrin repeat {3492-3510} HAT {3555-3588} coiled coil {3773-3813} spectrin repeat {3816-3907} MOTIF: Thr phosphorylation site {T3891} spectrin repeat {3967-4033} coiled coil {4101-4130} spectrin repeat {4146-4238} spectrin repeat {4261-4337} spectrin repeat {4486-4559} coiled coil {4590-4611} spectrin repeat {4750-4775} coiled coil {4852-4872} coiled coil {4913-4945} spectrin repeat {4993-5035} spectrin repeat {5101-5208} coiled coil {5293-5313} coiled coil {5350-5459} spectrin repeat {5569-5629} spectrin repeat {5632-5690} spectrin repeat {5738-5799} spectrin repeat {5963-6070} coiled coil {6420-6438} coiled coil {6524-6610} coiled coil {6693-6712} HAT {6774-6806} spectrin repeat {6795-6904} HAT {7001-7033} spectrin repeat {7022-7127} spectrin repeat {7162-7230} HAT {7211-7250} spectrin repeat {7352-7453} spectrin repeat {7456-7560} HAT {7542-7574} spectrin repeat {7697-7777} spectrin repeat {7780-7882} spectrin repeat {7885-7996} HAT {7975-8007} spectrin repeat {7999-8105} Spectrin {8108-8212} Ser phosphorylation site {S8223} Ser phosphorylation site {S8270} Thr phosphorylation site {T8274} Ser phosphorylation site {S8277} Ser phosphorylation site {S8280} coiled coil {8327-8401} MOTIF: Ser phosphorylation site {S8345} Spectrin {8440-8547} coiled coil {8630-8662} serine-rich region {8663-8729} MOTIF: serine residue (SEVERAL) KASH {8738-8797} MOTIF: transmembrane domain {8747-8767} Perinuclear space {8768-8797}

Database Correlations

OMIM correlations MORBIDMAP 608441 UniProt Q8NF91 PFAM correlations Entrez Gene 23345 Kegg hsa:23345