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Description for Protein SYNE1

spectrin repeat containing, nuclear envelope 1
9 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 2)
Summary:
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • SPECTRIN: Spectrin repeat
  • CH: Calponin homology domain
  • NLS: Nuclear localization signal
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Nuclear envelope spectrin repeat protein 1; Nesprin 1; KIAA0796; KIAA1756; KIAA1262; Enaptin; Nesprin 1 longest; CPG2; Myocyte nuclear envelope protein 1; MYNE1; SYNE-1B; Nesprin 1 isoform alpha; Nesprin 1 isoform longer; Nesprin 1 isoform beta
    Approved Symbol:
    SYNE1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 120
    Human (de-) phosphorylation sites: 120; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Spinocerebellar ataxia, autosomal recessive 8(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09762 Entrez Gene ID: 23345 OMIM ID: 608441 Swissprot Accession: Q8NF91;