Overview

  • Product name

    Recombinant Human Nesprin1/Syne-1 protein
  • Protein length

    Protein fragment

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Species

      Human
    • Sequence

      LRKIQQSVSEFEDKLAVPIKICSSATETYKVLQEHMDLCQALESLSSAIT AFSASARKVVNRDSCVQEAAALQQQYEDILRRAKERQTALENLLAHWQRL EKELSSFLTW
    • Amino acids

      1561 to 1670
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab161609 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    Western blot

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.

    Previously labelled as Nesprin 1. 

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • 8B
    • ARCA1
    • C6orf98
    • CPG2
    • CPG2 full length
    • dJ45H2.2
    • EDMD4
    • Enaptin
    • Myne-1
    • MYNE1
    • Myocyte nuclear envelope protein 1
    • Nesp1
    • Nesprin 1
    • Nesprin-1
    • Nuclear envelope spectrin repeat protein 1
    • SCAR8
    • Spectrin repeat containing nuclear envelope 1
    • Synaptic nuclear envelope protein 1
    • Synaptic nuclei expressed gene 1
    • Syne-1
    • SYNE1
    • SYNE1_HUMAN
    • SYNE1B
    see all
  • 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. 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. Required for centrosome migration to the apical cell surface during early ciliogenesis.
  • Tissue specificity

    Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, and peripheral blood leukocytes.
  • Involvement in 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.
    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.
  • Sequence similarities

    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.
  • 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.
  • Cellular localization

    Nucleus outer membrane. Cytoplasm > cytoskeleton. Cytoplasm > myofibril > sarcomere. 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.
  • Information by UniProt

Images

  • ab161609 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab161609 has not yet been referenced specifically in any publications.

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