ELANE

GENE INFORMATION

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Gene name

ELANE (HGNC Symbol)

Synonyms

ELA2, HLE, HNE, NE

Description

elastase, neutrophil expressed (HGNC Symbol)

Entrez gene summary

Elastases 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]

Chromosome

19 (Chromosome progress)

Cytoband

p13.3

Chromosome location (bp)

851014 - 856242

Ensembl

ENSG00000197561 (version 73.37)

Entrez gene

1991

UniProt

P08246 (UniProt - Evidence at protein level)

neXtProt

NX_P08246

Antibodypedia

ELANE antibodies
 

PROTEIN VIEW

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ELANE-001
 
ELANE-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ELANE-001 ENSP00000466090
ENST00000590230
P08246
Show all »
Show » Show » 267 28.5 Yes 0
ELANE-201 ENSP00000263621
ENST00000263621
P08246
Show all »
Show » Show » 267 28.5 Yes 0