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Description for Protein EPB41

erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
48 total interacting proteins; 33 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/0)
(membrane: 1; platelet: 13)
Summary:
The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. (PubMed Links)
Domains and Motifs:
  • B41: Band 4.1 homologues
  • NES: Nuclear Export Signal
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06107
    KEGG - Pathway(s):
    hsa04530
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Protein 4.1 presles; EL1; 4.1R; Protein 4.1; Elliptocytosis1
    Approved Symbol:
    EPB41
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 63
    Human (de-) phosphorylation sites: 63; 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(Pd);
  • Elliptocytosis due to absent protein 4.1(Pd);
  • Elliptocytosis due to protein 4.1 Madrid(Pd);
  • Elliptocytosis due to protein 4.1(Pd)(Pd);
  • Elliptocytosis, hemolytic, due to protein 4.1(68/65)(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00558 Entrez Gene ID: 2035 OMIM ID: 130500 Swissprot Accession: Q29RX4; P11171; Q59F12;