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FLASH GENE
Symbol ELANE contributors: mct/npt - updated : 23-11-2017
HGNC name elastase, neutrophil expressed
HGNC id 3309
Corresponding disease
ELA2 cyclic neutropenia
SCNP1 severe congenital neutropenia 1
Location 19p13.3      Physical location : 852.290 - 856.244
Synonym name
  • medullasin
  • leukocyte elastase
  • polymorphonuclear elastase
  • bone marrow serine protease
  • elastase 2, neutrophil
  • Synonym symbol(s) ELAL, NE, HLE, HNE, PMN-E, SERP1, GE, ELA2, SCN1
    EC.number 3.4.21.37
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 5.25 kb     5 Exon(s)
    regulatory sequence Promoter
    text structure a 117 bp fragment can act as a minimal promoter for the expression of neutrophil elastase
    MAPPING cloned Y linked N status provisional
    Map cen - 5' - AZU1 - PRTN3 - ELA2 - 3' - pter
    Authors Zimmer (92)
    regionally located . clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1020 28 267 - 2017 28507169
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmonocyte
    Blood/Hematopoieticneutrophil
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a peptidase S1 domain
  • HOMOLOGY
    interspecies homolog to murine Ela2
    Homologene
    FAMILY
  • peptidase S1 family
  • elastase subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus
    text
  • predominately found in the granules of neutrophils (Salipante 2009)
  • upon activation, ELANE escapes from azurophilic granules and translocates to the nucleus, where it partially degrades specific histones, promoting chromatin decondensation
  • basic FUNCTION
  • elastase activity
  • hydrolyzing proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix following the protein's release from activated neutrophils
  • participating through its unique N-terminal domain in the recruitment and activation of leukocytes at sites of inflammation
  • proteolytically cleaving annexin 1
  • ELANE and PRTN3 differ in intracellular localization, which may reflect different trafficking mechanisms of the precursor forms when synthesized at immature stages of neutrophils
  • upon activation, ELANE escapes from azurophilic granules and translocates to the nucleus, where it partially degrades specific histones, promoting chromatin decondensation
  • CTSG and ELANE are involved in the pathogenesis of a number of inflammatory disorders
  • is capable of entering tumor cell endosomes and processing novel intracellular substrates
  • ELANE and CTSG bind to the surface of cancer cells, presumably to a cell surface receptor, and subsequently undergo clathrin pit-mediated endocytosis
  • upregulated tissue factor mRNA and protein levels in monocyte
  • enhances the proliferation and decreases apoptosis of leukemia cells via activation of PI3K/Akt signaling
  • ELANE induces endothelial cell apoptosis by activating the EIF2AK3/DDIT3 branch of the unfolded protein response
  • protease expressed early in neutrophil development
  • neutrophil elastase, a neutrophil serine protease with important antimicrobial effects, found as part of neutrophil extracellular trap (NET) complexes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with NOTCH2 and NOTCH2NL
  • target for protease inhibition by alpha 1-antitrypsine
  • possible target of the leukemic fusion protein AML1-ETO resulting from the t(8;21) chromosomal translocation
  • stimulates the secretion of MUC5AC from airway epithelial cells, and can increase F2RL1 expression and MUC5AC release
  • PLUNC degradation by ELANE may increase airway susceptibility to bacterial infection
  • both ELANE and PRTN3 cleave the human NR1I2 N terminus at sites distinct from the thrombin cleavage site
  • peculiar activity of ELANE in disabling EMILIN1 suppressor function
  • novel functional network of ELANE, secretases, and F2RL1 that regulate CXCR1 expression on neutrophils
  • ELANE is largely contributed by activated neutrophils in the tumor microenvironment, and may be negatively regulating the ability of PI3 to arrest cells in G0
  • ELANE activates protease-activated receptor-2 (F2RL1) and transient receptor potential vanilloid 4 (TRPV4) to cause inflammation and pain
  • cell & other
    REGULATION
    Other regulated by the acute myeloid human leukemia 1 protein (AML1), CEBPA, SPI1 and MYB transcription factors
    ASSOCIATED DISORDERS
    corresponding disease(s) ELA2 , SCNP1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in severe congenital neutropenia
    constitutional germinal mutation      
    associated with a defect in NETosis and a distinct syndrome of recurrent viral infection and chronic inflammation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • potential of ELANE and CTSG to be used as markers for early detection of infection
  • Therapy target
    SystemTypeDisorderPubmed
    immunologyinfectious 
    cell-permeable inhibitors of neutrophil elastase show promise as novel therapies for ELANE-associated neutropenia
    cancerhemopathy 
    may therefore represent a molecular target for the treatment of pro‑myelocytic leukemia
    cancerreproductivebreast
    imbalance between ELANE and its inhibitors, such as PI3 , presents an important therapeutic target in breast cancer
    ANIMAL & CELL MODELS