Description: Homo sapiens elastase, neutrophil expressed (ELANE), mRNA. RefSeq Summary (NM_001972): Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also 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 present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]. Transcript (Including UTRs) Position: hg19 chr19:852,291-856,246 Size: 3,956 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr19:852,329-856,164 Size: 3,836 Coding Exon Count: 5
ID:ELNE_HUMAN DESCRIPTION: RecName: Full=Neutrophil elastase; EC=3.4.21.37; AltName: Full=Bone marrow serine protease; AltName: Full=Elastase-2; AltName: Full=Human leukocyte elastase; Short=HLE; AltName: Full=Medullasin; AltName: Full=PMN elastase; Flags: Precursor; FUNCTION: Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis. CATALYTIC ACTIVITY: Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa. SUBUNIT: Interacts with NOTCH2NL. INTERACTION: Q07563:Col17a1 (xeno); NbExp=2; IntAct=EBI-986345, EBI-6251005; TISSUE SPECIFICITY: Bone marrow cells. DISEASE: Defects in ELANE are a cause of cyclic haematopoiesis (CH) [MIM:162800]; 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. DISEASE: Defects in ELANE are the cause of neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700]. 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. SIMILARITY: Belongs to the peptidase S1 family. Elastase subfamily. SIMILARITY: Contains 1 peptidase S1 domain. SEQUENCE CAUTION: Sequence=CAA29300.1; Type=Erroneous initiation; WEB RESOURCE: Name=ELA2base; Note=ELA2 mutation db; URL="http://bioinf.uta.fi/ELA2base/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ELA2"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ela2/"; WEB RESOURCE: Name=Wikipedia; Note=Elastase entry; URL="http://en.wikipedia.org/wiki/Elastase";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08246
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001878 response to yeast GO:0002438 acute inflammatory response to antigenic stimulus GO:0002523 leukocyte migration involved in inflammatory response GO:0002812 biosynthetic process of antibacterial peptides active against Gram-negative bacteria GO:0006508 proteolysis GO:0006874 cellular calcium ion homeostasis GO:0006909 phagocytosis GO:0009411 response to UV GO:0019730 antimicrobial humoral response GO:0022617 extracellular matrix disassembly GO:0030163 protein catabolic process GO:0032496 response to lipopolysaccharide GO:0042742 defense response to bacterium GO:0043312 neutrophil degranulation GO:0043406 positive regulation of MAP kinase activity GO:0044130 negative regulation of growth of symbiont in host GO:0045079 negative regulation of chemokine biosynthetic process GO:0045415 negative regulation of interleukin-8 biosynthetic process GO:0045416 positive regulation of interleukin-8 biosynthetic process GO:0048661 positive regulation of smooth muscle cell proliferation GO:0050728 negative regulation of inflammatory response GO:0050778 positive regulation of immune response GO:0050832 defense response to fungus GO:0050900 leukocyte migration GO:0050922 negative regulation of chemotaxis GO:0070945 neutrophil mediated killing of gram-negative bacterium GO:0070947 neutrophil mediated killing of fungus GO:1903238 positive regulation of leukocyte tethering or rolling
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
