Genomes and Genes
Gene Symbol: Syne1
Description: spectrin repeat containing, nuclear envelope 1
Alias: A330049M09Rik, BE692247, C130039F11Rik, CPG2, KASH1, Myne1, mKIAA1756, myne-1, nesprin-1, KASH domain-containing protein 1, enaptin, enaptin165, myocyte nuclear envelope protein 1, nesprin 1, nuclear envelope spectrin repeat protein 1, synaptic nuclear envelope 1, synaptic nuclear envelope protein 1
- Zhang X, Xu R, Zhu B, Yang X, Ding X, Duan S, et al. Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation. Development. 2007;134:901-8 pubmed..in skeletal muscle cells by generating mice with single and double-disruption of the KASH-domain-containing genes Syne1 (also known as Syne-1) and Syne2 (also known as Syne-2)...
- Lei K, Zhang X, Ding X, Guo X, Chen M, Zhu B, et al. SUN1 and SUN2 play critical but partially redundant roles in anchoring nuclei in skeletal muscle cells in mice. Proc Natl Acad Sci U S A. 2009;106:10207-12 pubmed publisher..These results clearly indicate that SUN1 and SUN2 function critically in skeletal muscle cells for Syne-1 localization at the NE, which is essential for proper myonuclear positioning. ..
- Zhang J, Felder A, Liu Y, Guo L, Lange S, Dalton N, et al. Nesprin 1 is critical for nuclear positioning and anchorage. Hum Mol Genet. 2010;19:329-41 pubmed publisherb>Nesprin 1 is an outer nuclear membrane protein that is thought to link the nucleus to the actin cytoskeleton. Recent data suggest that mutations in Nesprin 1 may also be involved in the pathogenesis of Emery-Dreifuss muscular dystrophy...
- Grady R, Starr D, Ackerman G, Sanes J, Han M. Syne proteins anchor muscle nuclei at the neuromuscular junction. Proc Natl Acad Sci U S A. 2005;102:4359-64 pubmed..We then exploited this phenotype to show that synaptic nuclear aggregates are dispensable for maturation of the NMJ. ..
- Padmakumar V, Abraham S, Braune S, Noegel A, Tunggal B, Karakesisoglou I, et al. Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton. Exp Cell Res. 2004;295:330-9 pubmedb>Enaptin belongs to a family of recently identified giant proteins that associate with the F-actin cytoskeleton as well as the nuclear membrane...
- Haque F, Lloyd D, Smallwood D, Dent C, Shanahan C, Fry A, et al. SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton. Mol Cell Biol. 2006;26:3738-51 pubmed..Our data provide evidence of a physical nuclear-cytoskeletal connection that is likely to be a key mechanism in nuclear-cytoplasmic communication and regulation of nuclear position. ..
- Zhang X, Lei K, Yuan X, Wu X, Zhuang Y, Xu T, et al. SUN1/2 and Syne/Nesprin-1/2 complexes connect centrosome to the nucleus during neurogenesis and neuronal migration in mice. Neuron. 2009;64:173-87 pubmed publisher..Syne-2 mutants also display severe defects in learning and memory. These results fill an important gap in our understanding of the mechanism of nuclear movement during brain development. ..
- Zhang Q, Ragnauth C, Greener M, Shanahan C, Roberts R. The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300. Genomics. 2002;80:473-81 pubmed
- Nery F, Zeng J, Niland B, Hewett J, Farley J, Irimia D, et al. TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. J Cell Sci. 2008;121:3476-86 pubmed publisher..TorsinA also associated with the KASH domains of nesprin-1 and -2 (SYNE1 and 2), which link to actin...
- Lamberti A, Sanges C, Chambery A, Migliaccio N, Rosso F, Di Maro A, et al. Analysis of interaction partners for eukaryotic translation elongation factor 1A M-domain by functional proteomics. Biochimie. 2011;93:1738-46 pubmed publisher..Interestingly, a co-localization of SORBS2 and eEF1A was evidenced at level of plasma membrane, thus suggesting the involvement of eEF1A1 in novel key signal transduction complexes. ..
- Espigat Georger A, Dyachuk V, Chemin C, Emorine L, Merdes A. Nuclear alignment in myotubes requires centrosome proteins recruited by nesprin-1. J Cell Sci. 2016;129:4227-4237 pubmed..correct positioning of nuclei is thought to be important for muscle function and requires nesprin-1 (also known as SYNE1), a protein of the nuclear envelope...
- Morimoto A, Shibuya H, Zhu X, Kim J, Ishiguro K, Han M, et al. A conserved KASH domain protein associates with telomeres, SUN1, and dynactin during mammalian meiosis. J Cell Biol. 2012;198:165-72 pubmed publisher..Our study strongly suggests that the meiotic homologue-pairing mechanism mediated by the SUN-KASH NE bridge is highly conserved among eukaryotes. ..
- Chapman M, Zhang J, Banerjee I, Guo L, Zhang Z, Shelton G, et al. Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle. Hum Mol Genet. 2014;23:5879-92 pubmed publisher..In skeletal muscle, nesprin 1 and desmin are thought to link the nucleus to the cytoskeletal network...
- Rajgor D, Mellad J, Soong D, Rattner J, Fritzler M, Shanahan C. Mammalian microtubule P-body dynamics are mediated by nesprin-1. J Cell Biol. 2014;205:457-75 pubmed publisher..These data identify p50(Nesp1) as a multi-functional PB component and microtubule scaffold necessary for RNA granule dynamics and provides evidence for PB and SG micro-heterogeneity...
- Stroud M, Feng W, Zhang J, Veevers J, Fang X, Gerace L, et al. Nesprin 1Î±2 is essential for mouse postnatal viability and nuclear positioning in skeletal muscle. J Cell Biol. 2017;216:1915-1924 pubmed publisher..b>Nesprin 1, which includes multiple isoforms, is an integral component of the LINC complex, critical for nuclear ..
- Smith E, Zhang X, Capo Chichi C, Chen X, Xu X. Increased expression of Syne1/nesprin-1 facilitates nuclear envelope structure changes in embryonic stem cell differentiation. Dev Dyn. 2011;240:2245-55 pubmed publisher..Among a panel of nuclear envelope structural proteins examined, the expression of Syne1/nesprin-1 was found to be greatly induced upon differentiation...
- Nikolova Krstevski V, Leimena C, Xiao X, Kesteven S, Tan J, Yeo L, et al. Nesprin-1 and actin contribute to nuclear and cytoskeletal defects in lamin A/C-deficient cardiomyopathy. J Mol Cell Cardiol. 2011;50:479-86 pubmed publisher..Changes in the distribution and expression patterns of nuclear and cytoskeletal actin suggest that diverse transcriptional and structural defects may also contribute to DCM in Lmna(-/-) mice. ..
- Göb E, Schmitt J, Benavente R, Alsheimer M. Mammalian sperm head formation involves different polarization of two novel LINC complexes. PLoS ONE. 2010;5:e12072 pubmed publisher..Moreover, they are shown to be essential for maintaining nuclear shape...
- Sur I, Neumann S, Noegel A. Nesprin-1 role in DNA damage response. Nucleus. 2014;5:173-91 pubmed publisher..Our findings indicate a role for Nesprin-1 in the DNA damage response pathway and propose Nesprin-1 as novel player in tumorigenesis and genome instability. ..
- Razafsky D, Blecher N, Markov A, Stewart Hutchinson P, Hodzic D. LINC complexes mediate the positioning of cone photoreceptor nuclei in mouse retina. PLoS ONE. 2012;7:e47180 pubmed publisher..This study provides key mechanistic aspects underlying the well-known spatial confinement of cone nuclei as well as a new mouse model to evaluate the pathological relevance of nuclear mispositioning. ..
- Gao F, Yi Q, Tian Y, Wang F, Liu G. [Effect of nesprin-1 in the differentiation of mouse embryonic stem cells into cardiomyocytes]. Sichuan Da Xue Xue Bao Yi Xue Ban. 2012;43:161-5 pubmed..Nesprin-1 played important roles in mouse embryonic stem cells differentiation into cardiomyocyte. Nesprin-1 isoforms might perform different functions in the process of mouse embryonic stem cells differentiation. ..
- Razafsky D, Hodzic D. A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I. Neurobiol Dis. 2015;78:57-67 pubmed publisherNonsense mutations across the whole coding sequence of Syne1/Nesprin1 have been linked to autosomal recessive cerebellar ataxia Type I (ARCA1)...