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Description for Protein LRRC8A

leucine rich repeat containing 8 family, member A
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
Summary:
This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • LRR: Leucine-rich repeats, outliers

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    FLJ10337; KIAA1437; RP11-101E3.3; LRRC8; Leucine-rich repeat-containing 8
    Approved Symbol:
    LRRC8A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 7
    Human (de-) phosphorylation sites: 7; 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 4 : 4
  • Isoform 3 : 4
  • Isoform 2 : 4
  • Isoform 1 : 4
  • Additional Identifiers:

    HPRD: 09754 Entrez Gene ID: 56262 OMIM ID: 608360 Swissprot Accession: Q8IWT6A8K1C7