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FLASH GENE
Symbol ELMO1 contributors: mct - updated : 25-08-2014
HGNC name engulfment and cell motility 1
HGNC id 16286
PROTEIN
PHYSICAL PROPERTIES globular
STRUCTURE
motifs/domains
  • N-terminal amphiphatic alpha-helix, and point mutants of invariant hydrophobic AAs in the helix disrupt ELMO1-DOCK1 complex formation
  • C-terminal 200 AAs comprising the ELMO1 PH domain involved in interaction with DOCK1 , and promote potentially spine morphogenesis in hippocampal neurons ; C-terminal Pro-rich tail of ELMO1 winds around the Src-homology 3 domain of DOCK2, and an intermolecular five-helix bundle is formed
    • HOMOLOGY
    interspecies ortholog to C.elegans
    ortholog to Drosophila Ced-12
    intraspecies paralog to ELMO2
    paralog to ELMO3
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text colocolizing with CRKII and DOCK1 to membrane ruffles
    basic FUNCTION
  • upstream regulator of RAC1 required for engulfment of dying cells and for cell migration
  • having roles in mediating intracellular RAC1 signaling
  • engulfment protein that functions downstream of the phosphatidylserine receptor BAI1, and, along with DOCK1 and the GTPase RAC1, promotes internalization of the dying cells
  • crucial role in the phagocytic clearance of apoptotic germ cells by Sertoli cells lining the seminiferous epithelium
  • requirement in the Sertoli-cell-dependent homeostatic clearance of apoptotic germ cells, with consequences for sperm production
  • seems to promote downstream activation of RAC1 during phagocytosis by Sertoli cells
  • necessary for functions of DOCK1, functions in a complex with DOCK1 in spine morphogenesis through activating the RAC1 GTPase
  • localizes to excitatory synapses and is required for spine formation in hippocampal neurons
  • ELMO1 and MACF1 cooperate to promote the formation of membrane protrusions
  • role for ELMO1, ELMO2, ELMO3 in protrusion stability by acting at the interface between the actin cytoskeleton and the microtubule network
    • CELLULAR PROCESS cell life, cell death/apoptosis
    cell organization/biogenesis
    cell communication
    PHYSIOLOGICAL PROCESS
    text cytoskeletal rearrangements during phagocytosis and cell motility in the late steps of the apoptotic process (complementation group 2 in C elegans)
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • forms a trimeric complex with BAI1 and DOCK1
  • ELMO1/DOCK1 complex functions through Rac1 in various cellular contexts including migration and phagocytosis
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CRK1 (CRKII) and with DOCK1
  • activating RAC1
  • association with DOCK2 critical for DOCK2-mediated Rac activation
  • DOCK1-ELMO1 interaction is necessary to modulate actin cytoskeleton for phagocytosis and cell migration
  • interacting with BAI1 (BAI1 interacts through its cytoplasmic tail with ELMO1, and can activate RAC1 through the ELMO1–DOCK1 complex, thereby promoting apoptotic cell phagocytosis)
  • binds directly to the HCK SH3 domain and is phosphorylated by HCK
  • interacting with DOCK1
  • the entire regions of both DOCK2 and ELMO1 assemble to create a rigid structure, which is required for the DOCK2/ELMO1 binding
  • MACF1 interacts with the polyproline region of ELMO1
  • role for ELMO1 in controlling DOCK2 levels and DOCK2-dependent T cell migration in primary lymphocytes
  • NCK1-ELMO1 interaction promoting RAC1 activation and cell motility
  • DOCK1 is required for signaling by ELMO1-MACF1
  • binding between ELMO1 and the Mediator complex subunit MED31 (ELMO1 is a novel regulator of MED31, revealing a previously unrecognized link between cytoplasmic signaling proteins and the mediator complex)
  • ELMO1-interacting protein, ARHGEF16, functions synergistically with ELMO1 to promote clearance of apoptotic cells in a RHOG-dependent and DOCK1-independent manner
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
             
    fused with NAG in translocation, t(2;7)(p24.3;p14.2), in a case of acute myeloid leukemia transformed from myelodysplastic syndrome (
    Susceptibility to diabetic nephropathy
    Variant & Polymorphism other
  • rs1345365 and rs10951509, both of which are located in intron 13 and are in strong pairwise linkage disequilibrium with diabetic nephropathy
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Elmo1-/- mice revealed a striking disruption of the normal cellular organization of the seminiferous epithelium