| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Neutrophil elastase
|
| http://www.biopax.org/relea... |
ELNE_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
3.4.21.37,
Bone marrow serine protease,
Elastase-2,
HLE,
Human leukocyte elastase,
Medullasin,
PMN elastase
|
| http://www.biopax.org/relea... |
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. 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"; GENE SYNONYMS: ELA2. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
|
| skos:exactMatch | |
| skos:closeMatch |