Neutrophil Elastase (NE) Eukaryotic Protein

This gene encodes a member of the chymotrypsin-like family of serine protease enzymes that hydrolyzes a broad range of protein substrates including elastin. This gene is expressed by neutrophils where the encoded enzyme is stored in azurophil granules. Upon neutrophil activation, the active enzyme is released into the extracellular mileu. Mice lacking the encoded protein exhibit increased susceptibility to sepsis and death following intraperitoneal infection with Gram negative bacteria. This gene is located adjacent to a related proteinase gene on chromosome 10. [provided by RefSeq, Jul 2016]

ELANE: Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis. Defects in ELANE are a cause of cyclic haematopoiesis (CH); also known as cyclic neutropenia. CH is an autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency. Defects in ELANE are the cause of neutropenia severe congenital autosomal dominant type 1 (SCN1). SCN1 is a disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Belongs to the peptidase S1 family. Elastase subfamily.

Protein type: Protease; EC 3.4.21.37; Cell cycle regulation; Motility/polarity/chemotaxis; Cell surface

Cellular Component: cell surface; cytoplasm; extracellular space; secretory granule; transcriptional repressor complex

Molecular Function: cytokine binding; endopeptidase activity; heparin binding; hydrolase activity; peptidase activity; protease binding; serine-type endopeptidase activity; serine-type peptidase activity

Biological Process: acute inflammatory response to antigenic stimulus; defense response to bacterium; defense response to fungus; leukocyte migration; leukocyte migration during inflammatory response; negative regulation of chemokine biosynthetic process; negative regulation of interleukin-8 biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; phagocytosis; positive regulation of immune response; positive regulation of interleukin-8 biosynthetic process; positive regulation of smooth muscle cell proliferation; proteolysis; response to lipopolysaccharide; response to UV; response to yeast