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FLASH GENE
Symbol SYNE1 contributors: mct/npt - updated : 23-12-2014
HGNC name spectrin repeat containing, nuclear envelope 1
HGNC id 17089
Corresponding disease
AMCN3 arthrogryposis multiplex congenita neurogenic 3
EMD4 Emery-Dreifuss muscular dystrophy 4
SCAR8 spinocerebellar autosomal recesssive 8
Location 6q25.1      Physical location : 152.442.822 - 152.958.534
Synonym name
  • synaptic nuclei expressed gene 1
  • nesprin 1
  • enaptin
  • myocyte nuclear envelope
  • Nuclear envelope spectrin-repeat proteins
  • Synonym symbol(s) CPG2, MYNE1, SYNE-1, SYNE-1B, KIAA0796, KIAA1262, KIAA1756, C6orf98, 8B, dJ45H2.2
    DNA
    TYPE functioning gene
    STRUCTURE 515.71 kb     146 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LRP11 6q24.3 low density lipoprotein receptor-related protein 11 RAET1E 6q25 retinoic acid early transcript 1E ULBP2 6q25 UL16 binding protein 2 ULBP1 6q25 UL16 binding protein 1 LOC345829 6q24.3 similar to Transcription factor BTF3 (RNA polymerase B transcription factor 3) LOC391980 6 similar to UL16 binding protein 1; alcan-beta RAET1L 6q25 retinoic acid early transcript 1L PHBP1 6q25 prohibitin pseudogene 1 ULBP3 6q25 UL16 binding protein 3 PPP1R14C 6q24.3-q25.3 protein phosphatase 1, regulatory (inhibitor) subunit 14C RNU4P1 6q25.1 RNA, U4 small nuclear pseudogene 1 (U4/7) LOC389434 6 similar to iodotyrosine dehalogenase protein PLEKHG1 6q25.1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 FTHFSDC1 6q25.1 formyltetrahydrofolate synthetase domain containing 1 LOC391982 6 similar to ribosomal protein S12 AKAP12 6q24-q25 a kinase (PRKA) anchor protein (gravin) 12 ZBTB2 6q25.1 zinc finger and BTB domain containing 2 C6orf96 6q25.1 chromosome 6 open reading frame 96 C6orf211 6q25.1 chromosome 6 open reading frame 211 C6orf97 6q25.1 chromosome 6 open reading frame 97 ESR1 6q25.1 estrogen receptor 1 SYNE1 6q25 spectrin repeat containing, nuclear envelope 1 MYCT1 6q25.1 myc target 1 VIP 6q24-q27 vasoactive intestinal peptide LOC391983 6 similar to Tubulin beta-2 chain FBXO5 6q25-q26 F-box only protein 5 MTRF1L 6q25-q26 mitochondrial translational release factor 1-like RGS17 6q25-q26 regulator of G-protein signalling 17 LOC389435 6 similar to 60S ribosomal protein L27a OPRM1 6q24-q25 opioid receptor, mu 1 PIP3-E 6q25.2 phosphoinositide-binding protein PIP3-E
    RNA
    TRANSCRIPTS type messenger
    text have multiple alternative start and termination sites throughout their genes allowing the generation of smaller isoforms (PMID: 22768332)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 10835 - 3321 - 2005 15749817
    135 - 27436 - 8749 - 2005 15749817
  • also called SYNE1-VL
  • larger nesprin forms are thought to reside in the outer nuclear membrane
  • 19 - 3894 - 982 highly in skeletal and cardiac muscle 2005 15749817
    shorter forms are tethered to the inner nuclear membrane
    - - - 50 - - 2014 24862572
  • localizes to processing bodies (PBs), where it acts as a microtubule-associated protein capable of linking mRNP complexes to microtubules
  • is a multi-functional processing bodies (PBs) component and microtubule scaffold necessary for RNA granule dynamics and provides evidence for PB and stress granules (SGs) micro-heterogeneity
  • 145 - 27745 1000 8797 - 2005 15749817
    variant 1
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland   highly
     neuroendocrinepituitary  highly
     thyroid   highly
    Lymphoid/Immunethymus   highly
    Nervousbrainhindbraincerebellum  
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth   
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal calponin domains, binding filamentous actin, an actin-binding site
  • a large central spectrin-like rod domain
  • one interrupted LEM domain
  • a luminal domain binding directly to SUN proteins
  • a transmembrane anchor that tethers to the nuclear membrane
  • a short domain that resides within the lumen between the inner and outer nuclear membrane (Puckelwartz 2009)
  • C-terminal single transmembrane domain (KASH domain) spanning the outer nuclear membrane, which mediates nuclear membrane localization, and/or N-terminal paired calponin-homology domains that bind actin
  • HOMOLOGY
    interspecies ortholog to drosophila Msp900
    Homologene
    FAMILY
  • giant spectrin-repeat containing proteins family
  • nesprin family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm,nuclear bodies
    intracellular,nuclear envelope
    text
  • sarcomeric Z-line of skeletal and cardiac muscle
  • at the nuclear envelope of synaptic nuclei
  • outer nuclear membrane protein that is thought to link the nucleus to the actin cytoskeleton (Zhang 2010)
  • localizes to processing bodies (PBs), where it acts as a microtubule-associated protein capable of linking mRNP complexes to microtubules
  • basic FUNCTION
  • playing an important role in muscle function
  • functioning at both the Golgi and the nuclear envelope, perhaps linking the two organelles during muscle differentiation
  • having an important function in muscle development and maintenance (Attali 2009)
  • playing a role in anchoring nuclei at the neuromuscular junction
  • multi-isomeric, spectrin-repeat proteins that bind both emerin and lamins A/C and form a network in muscle linking the nucleoskeleton to the inner nuclear membrane, the outer nuclear membrane, membraneous organelles, the sarcomere and the actin cytoskeleton
  • in combination with two SUN-domain proteins, UNC84A and UNC84B, form a linking complex that couples the nucleoskeleton to the cytoskeleton
  • participate in the LINC complex that links the cytoplasm to the nucleus (Puckelwartz 2009)
  • involved in anchoring specialized myonuclei underneath neuromuscular junctions (Attali 2009)
  • essential for normal positioning and anchorage of nuclei in skeletal muscle
  • may be forming the critical link between the nucleus and the myofibers, without which nuclear attachment to myofibers is completely abolished
  • is not a structural component of the nucleus, but is rather a coupling element that mediates interactions between F-actin and the nucleus
  • SYNE1, SYNE2 act as highly versatile tissue specific intracellular protein scaffolds
  • plays an important role in the proliferation and apoptosis of mesenchymal stem cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of the LINC complex with the nesprin and SUN proteins (Puckelwartz 2009)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • emerin and lamin A
  • interacting with TOR1A through the KASH domain (role for torsinA in dynamic interactions between the KASH domains of nesprins and their protein partners in the lumen of the nuclear envelope, with torsinA influencing the localization of nesprins and associated cytoskeletal elements and affecting their role in nuclear and cell movement) (Nery 2008)
  • F-actin bound to SYNE1 and the actin cortical layer are considered to be involved in mechanical interaction with the nucleus
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAR8 , AMCN3 , EMD4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in Emery-Dreyfuss muscular dystrophy caused, in part, by uncoupling of the nucleoskeleton and cytoskeleton because of perturbed nesprin/emerin/lamin interactions)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for Emery-Dreifuss muscular dystrophy (Zhang 2010)
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with deletion of the C-terminus of nesprin-1 (homozygous for this mutation) exhibit lethality with approximately half dying at or near birth from respiratory failure; surviving mice display hindlimb weakness and an abnormal gait (Puckelwartz 2009)
  • young Nesprin 1/ mice of both sexes experienced growth retardation, increased variability in body weight and decreased exercise tolerance compared with wild-type animals (Zhang 2010)