ID:SYNE1_HUMAN DESCRIPTION: RecName: Full=Nesprin-1; AltName: Full=Enaptin; AltName: Full=Myocyte nuclear envelope protein 1; Short=Myne-1; AltName: Full=Nuclear envelope spectrin repeat protein 1; AltName: Full=Synaptic nuclear envelope protein 1; Short=Syne-1; FUNCTION: Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. Component of SUN-protein- containing multivariate complexes also called LINC complexes which link the nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal filaments. May be involved in the maintenance of nuclear organization and structural integrity. Connects nuclei to the cytoskeleton by interacting with the nuclear envelope and with F- actin in the cytoplasm. May be required for centrosome migration to the apical cell surface during early ciliogenesis. SUBUNIT: Dimer. Component of LINC complexes composed of SUN domain-containing proteins SUN1 or SUN2 coupled to KASH domain- containing proteins (SYNE1, SYNE2 or SYNE3) also called nesprins. May interact with MUSK (By similarity). Interacts with F-actin via its N-terminal domain (By similarity). Interacts with EMD and LMNA in vitro. Interacts with SYNE3. INTERACTION: Q9NRI5:DISC1; NbExp=6; IntAct=EBI-928867, EBI-529989; O94901:SUN1; NbExp=2; IntAct=EBI-6170938, EBI-2796904; Q9UH99:SUN2; NbExp=3; IntAct=EBI-928867, EBI-1044964; SUBCELLULAR LOCATION: Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side (Potential). Nucleus. Nucleus envelope. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere. Note=The 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 and smooth muscles, a significant amount is found in the sarcomeres. In myoblasts, relocalized from the nuclear envelope to the nucleus and cytoplasm during cell differentiation. TISSUE SPECIFICITY: Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. DOMAIN: The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains. DISEASE: Defects in SYNE1 are the cause of spinocerebellar ataxia autosomal recessive type 8 (SCAR8) [MIM:610743]; also known as autosomal recessive cerebellar ataxia type 1 (ARCA1) or recessive ataxia of Beauce. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form. DISEASE: Defects in SYNE1 are the cause of Emery-Dreifuss muscular dystrophy type 4 (EDMD4) [MIM:612998]. A degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. SIMILARITY: Belongs to the nesprin family. SIMILARITY: Contains 1 actin-binding domain. SIMILARITY: Contains 2 CH (calponin-homology) domains. SIMILARITY: Contains 12 HAT repeats. SIMILARITY: Contains 1 KASH domain. SIMILARITY: Contains 31 spectrin repeats. SEQUENCE CAUTION: Sequence=AAC02992.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAL38031.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAM95335.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin; Sequence=BAB71097.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=BAC04284.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD28486.2; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SYNE1"; WEB RESOURCE: Name=Wikipedia; Note=Enaptin entry; URL="http://en.wikipedia.org/wiki/Enaptin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8NF91
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
