Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

ELANE

contributors: mct/npt - updated : 23-11-2017

HGNC name	elastase, neutrophil expressed
HGNC id	3309

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte Blood/Hematopoietic neutrophil

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed immunology infectious   cell-permeable inhibitors of neutrophil elastase show promise as novel therapies for ELANE-associated neutropenia cancer hemopathy   may therefore represent a molecular target for the treatment of pro‑myelocytic leukemia cancer reproductive breast imbalance between ELANE and its inhibitors, such as PI3 , presents an important therapeutic target in breast cancer

ANIMAL & CELL MODELS