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FLASH GENE
Symbol SH3GL1 contributors: mct - updated : 08-03-2011
HGNC name SH3-domain GRB2-like 1
HGNC id 10830
Location 19p13.3      Physical location : 4.360.367 - 4.400.471
Synonym name
  • extra eleven nineteen gene
  • SH3-containing protein EEN
  • endophilin A2
  • EEN fusion partner of MLL
  • SH3 domain protein 2B
  • Synonym symbol(s) EEN, SH3D2B, CNSA1, EA2, MGC111371, SH3P8
    DNA
    TYPE like-sequence
    SPECIAL FEATURE component of a cluster
    text component of a cluster of paralagous genes on chromosomes 19 and 15
    STRUCTURE 40.10 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    text several alternative transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 2217 - 304 - 1997 9122235
    10 - 2460 - 368 - 1997 9122235
    - - 2415 - 320 - 1997 9122235
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Endocrinepancreas    
    Lymphoid/Immunetonsils   highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    cell cycle     cell cycle
    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)
  • 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