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MGP000946

UniProt Annotations

Entry Information
Gene Nameelastase, neutrophil expressed
Protein EntryELNE_HUMAN
UniProt IDP08246
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityHydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.
DiseaseCyclic haematopoiesis (CH) [MIM:162800]: 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. {ECO:0000269|PubMed:10581030, ECO:0000269|PubMed:11001877, ECO:0000269|PubMed:14962902, ECO:0000269|PubMed:23463630}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNeutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]: A disorder of hematopoiesis characterized by 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. {ECO:0000269|PubMed:11001877, ECO:0000269|PubMed:11675333, ECO:0000269|PubMed:12091371, ECO:0000269|PubMed:14962902, ECO:0000269|PubMed:17436313, ECO:0000269|PubMed:18946670, ECO:0000269|PubMed:19036076, ECO:0000269|PubMed:19415009, ECO:0000269|PubMed:19927291, ECO:0000269|PubMed:20220065, ECO:0000269|PubMed:20803142, ECO:0000269|PubMed:21425445, ECO:0000269|PubMed:23463630}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionModifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis. {ECO:0000269|PubMed:15140022}.
InteractionQ07563:Col17a1 (xeno); NbExp=2; IntAct=EBI-986345, EBI-6251005;
Sequence CautionSequence=CAA29300.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the peptidase S1 family. Elastase subfamily. {ECO:0000255|PROSITE-ProRule:PRU00274}.
SimilarityContains 1 peptidase S1 domain. {ECO:0000255|PROSITE- ProRule:PRU00274}.
SubunitInteracts with NOTCH2NL. {ECO:0000269|PubMed:14673143}.
Tissue SpecificityBone marrow cells.
Web ResourceName=CCHMC molecular genetics laboratory mutation database; Note=ELA2 elastase, neutrophil expressed (ELANE); URL="http://lovd.nl/ELANE";
Web ResourceName=ELA2base; Note=ELA2 mutation db; URL="http://structure.bmc.lu.se/idbase/ELA2base/";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ela2/";
Web ResourceName=Wikipedia; Note=Elastase entry; URL="http://en.wikipedia.org/wiki/Elastase";
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