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Description for Protein LRBA

LPS-responsive vesicle trafficking, beach and anchor containing
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 5/0)
(alpha granules: 1; membrane: 1; platelet: 7)
Summary:
Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) suffer from a systemic immunodeficiency involving defects in polarized trafficking of vesicles in a number of immune system cell types. In mouse, this syndrome is reproduced in strains with a mutation in the 'beige' gene that results in proteins lacking the BEACH (beige and CHS1) domain and C-terminal WD repeats. LRBA contains key features of both beige/CHS1 and A kinase anchor proteins (AKAPs; see MIM 602449).[supplied by OMIM] (PubMed Links)
Domains and Motifs:
  • WD40: WD40 repeats
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Lipopolysaccharide responsive, beige like anchor protein; CDC4 like protein; Cell division cycle 4 like protein; CDC4L; Beige like protein
    Approved Symbol:
    LRBA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 32
    Human (de-) phosphorylation sites: 32; 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:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 07344 Entrez Gene ID: 987 OMIM ID: 606453 Swissprot Accession: P50851;