SPTBN1

Spectrin, beta, non-erythrocytic 1

 

  • Alias                                 (According to NCBI)

 
  • SPTB2
  • Spectrin, beta, nonerythrocytic-1 (beta-fodrin)
  • spectrin, beta, non-erythrocytic 1
  • Spectrin beta chain, brain 1 (Spectrin, non-erythroid beta chain 1) (Beta-II spectrin) (Fodrin
    beta chain).

  • Spectrin is a tetrameric cytoskeletal protein essential for determination of cell shape, resilience of membranes to mechanical stress, positioning of transmembrane proteins, and organization of organelles and molecular traffic. Alpha- and beta-spectrin subunits form antiparallel dimers that self associate to give the spectrin tetramer. Beta subunits, such as SPTBN1, contain most of the spectrin binding activity (Hayes et al., 2000).
  • Location: 2p21  
  • Orientation: plus strand
  • Size: 142354 bp
  • 35 exons
  • DNA sequence (Human): NC_000002

  • CGH (2p21): Losses (%) -6.3   Gain (%)  7.5   Amplifications  0.0
  • Mutations and SNPs  (According to HGMD and SNP)

 
  • m-RNA                           (According to NCBI and CGAP)

 
  • Size: 2364 amino acids; 274629 Da
  • Catalytic activity:

  • Subcellular location:

  • Protein domains

  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions: 1021N

  • Clinical                            (According to OMIM, PubMed)