Entity Details

Primary name ELANE
Entity type gene
Source Source Link

Details

PrimaryID1991
RefseqGeneNG_009627
SymbolELANE
Nameelastase, neutrophil expressed
Chromosome19
Location19p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-01-04
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsELNE_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0001878 response to yeast
GO:0002020 protease binding
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:0003714 transcription corepressor activity
GO:0004175 endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0006508 proteolysis
GO:0006874 cellular calcium ion homeostasis
GO:0006909 phagocytosis
GO:0008201 heparin binding
GO:0008233 peptidase activity
GO:0009411 response to UV
GO:0009986 cell surface
GO:0017053 transcription repressor complex
GO:0019730 antimicrobial humoral response
GO:0019955 cytokine binding
GO:0022617 extracellular matrix disassembly
GO:0030141 secretory granule
GO:0030163 protein catabolic process
GO:0032496 response to lipopolysaccharide
GO:0032682 negative regulation of chemokine production
GO:0032717 negative regulation of interleukin-8 production
GO:0032757 positive regulation of interleukin-8 production
GO:0035578 azurophil granule lumen
GO:0035580 specific granule lumen
GO:0042742 defense response to bacterium
GO:0043312 neutrophil degranulation
GO:0043406 positive regulation of MAP kinase activity
GO:0045335 phagocytic vesicle
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0050728 negative regulation of inflammatory response
GO:0050778 positive regulation of immune response
GO:0050922 negative regulation of chemotaxis
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
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

Diseases

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Disease IDSourceNameDescription
162800 OMIMCyclic haematopoiesis (CH)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. The disease is caused by variants affecting the gene represented in this entry.
202700 OMIMNeutropenia, severe congenital 1, autosomal dominant (SCN1)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. The disease is caused by variants affecting the gene represented in this entry.