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Description for Protein ANK1

ankyrin 1, erythrocytic
16 total interacting proteins; 10 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/1)
(phosphoproteome: 1; platelet: 11; undefined: 1)
Summary:
Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ANK: ankyrin repeats
  • DEATH: DEATH domain, found in proteins involved in cell death (apoptosis).
  • ZU5: Domain present in ZO-1 and Unc5-like netrin receptors
  • TM: Transmembrane domain
  • SP: Signal Peptide
  • CC: Coiled Coil

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K10380
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Ankyrin R; ANK; Erythrocyte ankyrin; Ankyrin 1 isoform 3; Ankyrin 1 isoform 4; Ankyrin 1 isoform 2; Ankyrin 1 isoform 5; Ankyrin 1 isoform 6; Ankyrin 1 isoform 7; Ankyrin 1 isoform 8; Ankyrin 1 isoform 1
    Approved Symbol:
    ANK1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 31
    Human (de-) phosphorylation sites: 31; Platelet phosphorylation sites: 4

    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:

  • Spherocytosis, autosomal recessive(Pd);
  • Spherocytosis, hereditary, due to ankyrin Florianopolis(Pd);
  • Spherocytosis, hereditary, due to ankyrin Saint-Etienne 1(Pd);
  • Spherocytosis, hereditary, due to ankyrin Saint-Etienne 2(Pd);
  • Spherocytosis, hereditary, due to ankyrin-Rakovnik(Pd)
  • Predicted Transmembrane Domains:
    01693_10(0)
  • Isoform 9 : 1
  • Isoform 8 : 1
  • Isoform 7 : 1
  • Isoform 6 : 1
  • Isoform 5 : 1
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 01693 Entrez Gene ID: 286 OMIM ID: 612641 Swissprot Accession: P16157B3KX39Q53ER1