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FLASH GENE
Symbol SH3GL1 contributors: mct - updated : 08-03-2011
HGNC name SH3-domain GRB2-like 1
HGNC id 10830
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
one SH3 domain at the C terminus
HOMOLOGY
interspecies homolog to murine Sh3d2b
intraspecies homolog to Src-homology 3 domain GRB2-like gene 1
Homologene
FAMILY endophilin A family
CATEGORY adaptor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,endosome
intracellular,cytoplasm,cytosolic
text cytosol of neuronal cells
basic FUNCTION
  • may be playing a regulatory role in synaptic vesicle recycling
  • involved in the formation of endocytic vesicles
  • playing a role in the cell cycle
  • involves the mechanism of action of CLEC7A on phagocytosis in macrophages
  • SH3GL1 post-translationaly modified by ubiquitin-like protein FAU is a regulator of innate immunity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • synaptojanin and dynamin
  • interacting with CREBBP
  • interacting with FAU (post-translational modification of SH3GL1 by FAU might be implicated in phagocytosis by macrophages)
  • SH3GL2, SH3GL1, and SH3GL3, are recruited to the necks of endocytic clathrin-coated pits by its curvature sensitive BAR domain and binds both dynamin and synaptojanin
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with HRX (MLL) in acute lymphoblastic leukemia with translocation t(11;19)(q23;q13
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS