Version 5.4
Homo sapiens Gene: ELANE
Summary
InnateDB Gene IDBG-13111.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ELANE
Gene Name elastase, neutrophil expressed
Synonyms ELA2; GE; HLE; HNE; NE; PMN-E; SCN1
Species Homo sapiens
Ensembl Gene ENSG00000197561
Encoded Proteins
IDBP-13113
elastase, neutrophil expressed
IDBP-765684
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PMID 18772136
ELANE is a pro-inflammatory protease that regulates IL8 production from airway epithelial cells and can activate both EGFR and TLR4.
PMID 18802098
ELANE mediates innate host protection against Pseudomonas aeruginosa by degrading the major outer membrane protein F, a protein involved in porin activity, maintenance of structural integrity, and sensing of host immune system activation.
PMID 20676107
ELANE and CTSG, together with externalized nucleosomes, promote coagulation and intravascular thrombus growth in vivo. During systemic infection, activation of coagulation fosters compartmentalization of bacteria in liver microvessels and reduces bacterial invasion into tissue.
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:851014-856247
Strand Forward strand
Band p13.3
Transcripts
ENST00000263621 ENSP00000263621
ENST00000590230 ENSP00000466090
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 55 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 55 [view]
Protein-Protein 51 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001106 RNA polymerase II transcription corepressor activity
GO:0002020 protease binding
GO:0003824 catalytic activity
GO:0004175 endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0008201 heparin binding
GO:0008233 peptidase activity
GO:0019955 cytokine binding
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:0006508 proteolysis
GO:0006874 cellular calcium ion homeostasis
GO:0006909 phagocytosis
GO:0009411 response to UV
GO:0022617 extracellular matrix disassembly
GO:0030163 protein catabolic process
GO:0030198 extracellular matrix organization
GO:0030574 collagen catabolic process
GO:0032496 response to lipopolysaccharide
GO:0042742 defense response to bacterium
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:0045087 innate immune response (InnateDB)
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:0070947 neutrophil mediated killing of fungus
Cellular Component
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0009986 cell surface
GO:0017053 transcriptional repressor complex
GO:0030141 secretory granule
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020125
View Gene Order
ENSBTAG00000046188
Not yet available
Pathways
NETPATH
REACTOME
REACT_118682
Activation of Matrix Metalloproteinases pathway
REACT_150401
Collagen degradation pathway
REACT_118779
Extracellular matrix organization pathway
REACT_118572
Degradation of the extracellular matrix pathway
KEGG
hsa05322
Systemic lupus erythematosus pathway
INOH
PID NCI
upa_upar_pathway
Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling
cmyb_pathway
C-MYB transcription factor network
Cross-References
SwissProt P08246
TrEMBL B2MUD5
UniProt Splice Variant
Entrez Gene 1991
UniGene Hs.99863
RefSeq NM_001972 XM_005259517 XM_006725397
HUGO HGNC:3309
OMIM 130130
CCDS CCDS12045
HPRD
IMGT
EMBL AY596461 BC074816 BC074817 D00187 EU617980 J03545 M20199 M20200 M20201 M20203 M27783 M34379 X05875 Y00477
GenPept AAA35792 AAA36173 AAA36359 AAA52378 AAH74816 AAH74817 AAS89303 ACC78413 BAA00128 CAA29299 CAA29300 CAA68537
RNA Seq Atlas 1991

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca