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elastase-2; neutrophil elastase; leukocyte elastase; medullasin; bone marrow serine protease ( ELA2, ELANE)

Function: - modifies functions of natural killer cells, monocytes & granulocytes - inhibits C5a-dependent neutrophil enzyme release & chemotaxis - hydrolysis of proteins, including elastin - preferential cleavage: Val-|-Xaa > Ala-|-Xaa Structure: - belongs to the peptidase S1 family, elastase subfamily - contains 1 peptidase S1 domain Expression: bone marrow cells Pathology: - defects in ELA2 are a cause of cyclic hematopoiesis Genetics: - proteinase 3, neutrophil elastase & azurocidin are within an approximately 50-kb cluster on chromosome 19p Laboratory: - leukocyte elastase in plasma

Related

ELA2 gene mutation

Specific

elastase-2B; pancreatic elastase IIB (ELA2B, CELA2B)

General

elastase glycoprotein secreted protein

Properties

SIZE: entity length = 267 aa MW = 29 kD COMPARTMENT: inner mitochondrial membrane CELL: neutrophil erythroblast MOTIF: signal sequence {1-27} S1 domain {30-247} MOTIF: cysteine residue {C55} MODIFICATION: cysteine residue {C71} histidine residue {H70} cysteine residue {C71} MODIFICATION: cysteine residue {C55} N-glycosylation site {N88} aspartate residue {D117} N-glycosylation site {N124} cysteine residue {C151} MODIFICATION: cysteine residue {C208} N-glycosylation site {N173} cysteine residue {C181} MODIFICATION: cysteine residue {C187} cysteine residue {C187} MODIFICATION: cysteine residue {C181} cysteine residue {C198} MODIFICATION: cysteine residue {C223} serine residue {S202} cysteine residue {C208} MODIFICATION: cysteine residue {C151} cysteine residue {C223} MODIFICATION: cysteine residue {C198}

Database Correlations

OMIM correlations MORBIDMAP 130130 UniProt P08246 Pfam PF00089 Entrez Gene 1991 ENZYME 3.4.21.37

References

  1. OMIM :accession 130130
  2. UniProt :accession P08246
  3. ELA2base; ELA2 mutation db http://bioinf.uta.fi/ELA2base/
  4. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ELA2
  5. Wikipedia; Note=elastase entry http://en.wikipedia.org/wiki/elastase