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Description for Protein SPTA1

spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
16 total interacting proteins; 11 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SPECTRIN: Spectrin repeat
  • EF: EF-hand, calcium binding motif
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06114
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Erythroid alpha spectrin; SPTA; Spectrin alpha chain, erythrocyte
    Approved Symbol:
    SPTA1
    (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:

  • Elliptocytosis, rhesus-unlinked type(Pd);
  • Pyropoikilocytosis, hereditary(Pd);
  • Spectrin Lepra(Pd);
  • Spectrin Prague(Pd);
  • Spectrin st claude, poikilocytic anemia due to(Pd);
  • Spherocytosis, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01685 Entrez Gene ID: 6708 OMIM ID: 182860 Swissprot Accession: P02549;