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Description for Protein SPTB

spectrin, beta, erythrocytic
10 total interacting proteins; 7 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 7/1)
(membrane: 1; microparticles: 1; platelet: 8; secretome: 1; undefined: 1)
Summary:
This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SPECTRIN: Spectrin repeat
  • CC: Coiled Coil
  • CH: Calponin homology domain
  • PH: Pleckstrin homology domain.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06115
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Spectrin beta chain, erythrocyte; SPTB1; Spectrin beta isoform b; HSpTB1; Spectrin beta; Beta spectrin; Membrane cytoskeletal protein; Beta I spectrin form betaI sigma3; Beta-I spectrin; Spectrin beta isoform a
    Approved Symbol:
    SPTB
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 8
    Human (de-) phosphorylation sites: 8; 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:

  • Anemia, neonatal hemolytic, fatal and near-fatal(Pd);
  • Elliptocytosis(Pd);
  • Elliptocytosis due to spectrin Cosenza(Pd);
  • Elliptocytosis due to spectrin Promissao(Pd);
  • Spectrin Cagliari(Pd);
  • Spectrin Providence(Pd);
  • Spectrin Saint Chamond(Pd);
  • Spectrin Tlemcen(Pd);
  • Spherocytosis, autosomal dominant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01686 Entrez Gene ID: 6710 OMIM ID: 182870 Swissprot Accession: P11277;