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ELANE

Function

Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae (PubMed:10947984).

Involvement in disease

Cyclic haematopoiesis

CH

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Neutropenia, severe congenital 1, autosomal dominant

SCN1

A disorder of hematopoiesis characterized by 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the peptidase S1 family. Elastase subfamily.

Tissue specificity

Bone marrow cells. Neutrophil (PubMed:10947984).

Cellular localization

  • Cytoplasmic vesicle
  • Phagosome
  • Localized in phagolysosomes following ingestion of E.coli by neutrophils.

Alternative names

  • Neutrophil elastase
  • Bone marrow serine protease
  • Elastase-2
  • Human leukocyte elastase
  • Medullasin
  • PMN elastase
  • HLE
  • ELA2
  • ELANE

Target type

Proteins

Molecular weight

28518Da