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FLASH GENE
Symbol ELMO1 contributors: mct - updated : 25-08-2014
HGNC name engulfment and cell motility 1
HGNC id 16286
Location 7p14.2      Physical location : 36.893.960 - 37.488.511
Synonym name
  • protein ced-12 homolog 1
  • engulfment and cell motility 1 (ced-12 homolog, C. elegans)
    • Synonym symbol(s) KIAA0281, CED12, CED-12, ELMO-1, MGC126406
    DNA
    TYPE functioning gene
    STRUCTURE 594.55 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 3727 - 727 - 2008 18768751
    variant 1
    7 - 2177 - 247 - 2008 18768751
    variant 2
    7 - 2129 - 247 - 2008 18768751
    variant 3
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Nervousbrainlimbic systemhippocampus highly Homo sapiens
    Reproductivemale systemtestis    Homo sapiens
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    ReproductiveSertoli cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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