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FLASH GENE
Symbol LRBA contributors: mct - updated : 12-07-2012
HGNC name LPS-responsive vesicle trafficking, beach and anchor containing
HGNC id 1742
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six WD repeats (WD-40 repeats)
  • a beige/BEACH domain, beige and Chediak-Higashi syndrome (BEACH) domain that defines a large family of eukaryotic proteins having diverse cellular functions in vesicle trafficking, membrane dynamics, and receptor signaling
  • a weakly conserved pleckstrin homology (PH) domain, having the same backbone fold as canonical PH domains, despite sharing no sequence homology with them
  • HOMOLOGY
    interspecies ortholog to murine Lrba
    ortholog to Drosophila CDC45L
    homolog to C.elegans F34D10.2, Sel-2
    homolog to yeast cell division cycle gene Cdc4 (homology very limited)
    intraspecies homolog to BCL8
    Homologene
    FAMILY BEACH-WD40 domain-containing proteins family
    CATEGORY secretory , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • transGolgi
  • endocytosis vesicles
  • basic FUNCTION
  • may mediate protein-protein interactions
  • functioning in polarized vesicle trafficking by guiding intracellular vesicles to activated receptor complexes and thus
  • facilitating polarized secretion and/or membrane deposition of immune effector molecules
  • involved in endosomal traffic and may be involved in efficient delivery of cell surface proteins to the lysosome
  • potentially acts as a positive regulator of cell survival by promoting proliferation and by preventing apoptosis
  • unanticipated functions in B cells, which are essential for normal development and humoral immune responses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    induced by lipopolysaccharide (LPS)
    ASSOCIATED DISORDERS
    corresponding disease(s) CVID8
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
    in Chediack-Higashi syndrome (CHS1)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS