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MGP000946

Record overview

MGPD IDMGP000946
Gene ID1991
SpeciesHomo sapiens (Human)
Gene Nameelastase, neutrophil expressed
Gene Symbol ELANE
SynonymsGE; NE; HLE; HNE; ELA2; SCN1; PMN-E;
Alternate namesneutrophil elastase; elastase-2; medullasin; PMN elastase; leukocyte elastase; elastase 2, neutrophil; human leukocyte elastase; polymorphonuclear elastase; bone marrow serine protease; granulocyte-derived elastase;
Chromosome19
Map Location19p13.3
EC Number3.4.21.37
SummaryElastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins. The product of this gene hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix following the protein's release from activated neutrophils. The enzyme may play a role in degenerative and inflammatory diseases by its proteolysis of collagen-IV and elastin of the extracellular matrix. This protein degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, May 2009]
OrthologsView orthologs and multiple alignments for ELANE

Proteins

neutrophil elastase preproprotein
Refseq ID:NP_001963
Protein GI:4503549
UniProt ID:P08246
mRNA ID:NM_001972
Length:267
RefSeq Status:
MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAVRVVLGAHNLSRREPTRQVFA
VQRIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLGRNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFG
DSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVNWIDSIIQRSEDNPCPHPRDPDPASRTH
 
sig_peptide: 1..29
calculated_mol_wt: 2975
peptide sequence: 
MTLGRRLACLFLACVLPALLLGGTALASE

mat_peptide: 30..247
product: neutrophil elastase
calculated_mol_wt: 23295
peptide sequence: 
IVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAVRVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQLNGSATI
NANVQVAQLPAQGRRLGNGVQCLAMGWGLLGRNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYP
DAFAPVAQFVNWIDSIIQ
 
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