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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]
ELANE (Elastase, Neutrophil Expressed) is a Protein Coding gene. Diseases associated with ELANE include Cyclic Neutropenia and Neutropenia, Severe Congenital, 1, Autosomal Dominant. Among its related pathways are Transcriptional misregulation in cancer and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is PRTN3.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH19J000850 | Promoter/Enhancer | 1.1 | Ensembl ENCODE | 606.5 | -0.2 | -181 | 1.4 | IKZF1 ZIC2 PATZ1 SP1 ZNF600 ZNF341 EP300 ZNF792 CEBPB ZBTB20 | ELANE PRTN3 LT222231 | |
GH19J000852 | Promoter | 0.9 | EPDnew Ensembl | 600.7 | +1.3 | 1303 | 0.2 | ZNF692 SPI1 ZFP69B POLR2A | ELANE CFD | |
GH19J000848 | Enhancer | 0.5 | Ensembl | 600.7 | -1.8 | -1796 | 0.8 | ZNF24 ZNF184 BCOR PRDM10 POLR2A L3MBTL2 SMARCA5 ZNF121 | ELANE PRTN3 LT222231 | |
GH19J000851 | Enhancer | 0.4 | ENCODE | 600.7 | +0.6 | 641 | 0.1 | ZNF341 BCOR HDAC2 | ELANE CFD | |
GH19J000849 | Enhancer | 0.4 | Ensembl | 600.7 | -1.1 | -1096 | 0.2 | BCOR ADNP ZKSCAN8 | ELANE PRTN3 LT222231 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 6980881 |
GO:0003714 | transcription corepressor activity | IMP | 19506020 |
GO:0004175 | endopeptidase activity | IDA | 6980881 |
GO:0004252 | serine-type endopeptidase activity | TAS | -- |
GO:0005515 | protein binding | IPI | 12114510 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA,IDA | 20421939 |
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IDA | 19506020 |
GO:0009986 | cell surface | IDA | 12114510 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 19506020 |
GO:0001878 | response to yeast | IEA | -- |
GO:0002438 | acute inflammatory response to antigenic stimulus | IBA | 21873635 |
GO:0002523 | leukocyte migration involved in inflammatory response | IEA | -- |
GO:0002812 | biosynthetic process of antibacterial peptides active against Gram-negative bacteria | IDA | 20421939 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Alpha-1-proteinase inhibitor | Approved | Pharma | Target, inhibitor | 0 | ||
Filgrastim | Approved | Pharma | Target, other/unknown | 0 | ||
Pegfilgrastim | Approved | Pharma | Enzyme, substrate | 0 | ||
Erdosteine | Approved, Investigational | Pharma | 7 | |||
Freselestat | Experimental, Investigational | Pharma | Target, inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ONO 6818 |
|
208848-19-5 |
|
|
Compound | Action | Cas Number |
---|---|---|
ONO 6818 | High affinity and selective human neutrophil elastase 1 (HNE1) inhibitor; orally active | 208848-19-5 |
Sivelestat sodium salt | Selective leukocyte elastase inhibitor | 150374-95-1 |
SSR 69071 | Potent, orally active human leukocyte elastase inhibitor | 344930-95-6 |
Compound | Action | Cas Number |
---|---|---|
Alvelestat | NE inhibitor | 848141-11-7 |
DMP 777 | Leukocyte elastase (HLE) inhibitor | 157341-41-8 |
Elastase Inhibitor, SPCK | HLE inhibitor | 65144-34-5 |
GW311616 | 198062-54-3 | |
GW311616 hydrochloride | HNE inhibitor | 197890-44-1 |
Sivelestat sodium salt | Leukocyte elastase inhibitor | 150374-95-1 |
SSR 69071 | HLE inhibitor | 344930-95-6 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ELANE 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ELANE 30 |
|
||
ELA2 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | ELANE 30 |
|
||
ELA2 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | Elane 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Elane 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ELANE 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ELANE 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636926 | Uncertain Significance: not provided | 852,941(+) | G/T | MISSENSE_VARIANT | |
636937 | Uncertain Significance: not provided | 853,370(+) | C/G | SYNONYMOUS_VARIANT | |
638881 | Uncertain Significance: Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant | 855,563(+) | G/C | SPLICE_ACCEPTOR_VARIANT | |
639706 | Uncertain Significance: Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant | 852,396(+) | G/T | SPLICE_DONOR_VARIANT | |
641103 | Uncertain Significance: Cyclical neutropenia; Neutropenia, severe congenital 1, autosomal dominant | 855,764(+) | C/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv134n111 | CNV | deletion | 26073780 |
dgv1679n106 | CNV | deletion | 24896259 |
esv2717799 | CNV | deletion | 23290073 |
nsv470101 | CNV | loss | 18288195 |
nsv953938 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cyclic neutropenia |
|
|
neutropenia, severe congenital, 1, autosomal dominant |
|
|
neutropenia |
|
|
severe congenital neutropenia autosomal dominant |
|
|
bronchitis |
|