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)
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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
More general terms
Additional terms
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q8NF91.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SYNE1
- ↑ Wikipedia; Note: Enaptin entry http://en.wikipedia.org/wiki/Enaptin
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=23345
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:23345
- OMIM: https://mirror.omim.org/entry/608441
- OMIM: https://mirror.omim.org/entry/610743
- OMIM: https://mirror.omim.org/entry/612998
- UniProt: http://www.uniprot.org/uniprot/Q8NF91.html