ELANE - elastase, neutrophil expressed Gene
Also Known as GE; NE; HLE; HNE; ELA2; SCN1; PMN-E
Species: Homo sapiens
About ELANE
This gene has 2 transcripts (splice variants), 1 gene allele, 92 orthologues, 6 paralogues and is associated with 4 phenotypes. Restricted expression toward bone marrow (RPKM 675.1).
Summary
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 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001972.4 | NP_001963.1 | neutrophil elastase preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cytokine binding |
IPI
IPI: Inferred from physical interaction
|
12393522 | GOA |
| enables endopeptidase activity |
IDA
IDA: Inferred from direct assay
|
6980881 | GOA |
| enables heparin binding |
IDA
IDA: Inferred from direct assay
|
11907569 | GOA |
| enables peptidase activity |
IDA
IDA: Inferred from direct assay
|
11907569 | GOA |
| enables protease binding |
IPI
IPI: Inferred from physical interaction
|
6980881 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12114510 | GOA |
| enables serine-type endopeptidase activity |
EXP
EXP: Inferred from Experiment
|
29539421 | GOA |
| enables serine-type endopeptidase activity |
IDA
IDA: Inferred from direct assay
|
36899106 | GOA |
| enables transcription corepressor activity |
IMP
IMP: Inferred from mutant phenotype
|
19506020 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
12114510 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
19506020 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
20421939 | GOA |
| located in secretory granule |
IDA
IDA: Inferred from direct assay
|
11907569 | GOA |
| part of transcription repressor complex |
IDA
IDA: Inferred from direct assay
|
19506020 | GOA |
ELANE Protein Structure
Trypsin: Trypsin (30 - 242)
- 0
- 100
- 200
- 267 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
neutrophil elastase |
|
ELANE Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Cross
|
ELANE | P08246 | S | SARS-CoV-2 | P0DTC2 | 33748632 |
Recombinant ELANE Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72179 | ELANE Protein, Human (GST) | P08246 (I30-H267) | ≥ 90%, as determined by reducing SDS-PAGE. |
ELANE Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81215 | Neutrophil Elastase Antibody (YA3528) | WB, IHC-P, ICC/IF, FC | Human, Mouse |
| HY-P84004 | Neutrophil Elastase Antibody (YA3701) | WB, IHC-P, FC, ELISA | Human, Monkey |
| HY-P84004A | Neutrophil Elastase Antibody (YA3701)(PBS only) | WB, IHC-P, FC, ELISA | Human, Monkey |
| HY-P86073 | Neutrophil Elastase Antibody (YA5765) | WB, ICC/IF, IP, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cyclic Neutropenia |
|
|
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
|
| Neutropenia |
|
|
| Severe Congenital Neutropenia |
|
|
| Neutropenia, Severe Congenital, X-Linked |
|
|
| Autosomal Dominant Severe Congenital Neutropenia |
|
|
| Autoinflammatory Syndrome |
|
|
| Adult Respiratory Distress Syndrome |
|
|
| Bronchitis |
|
|
| Pulmonary Emphysema |
|
|
| Alpha-1-Antitrypsin Deficiency |
|
|
| Gingivitis |
|
|
| Otitis Externa |
|
|
| Bronchiectasis |
|
|
| Bronchial Disease |
|
|
| Lung Disease |
|
|
| Pasteurellosis |
|
|
| Netherton Syndrome |
|
|
| Vasculitis |
|
|
| Elephantiasis |
|
|
| Disseminated Intravascular Coagulation |
|
|
| Erysipelas |
|
|
| Aspergillosis |
|
|
| Farmer'S Lung |
|
|
| Pustular Psoriasis |
|
|
| Bronchopneumonia |
|
|
| Acute Pancreatitis |
|
|
| Pneumonia |
|
|
| Rapidly Progressive Glomerulonephritis |
|
|
| Chorioamnionitis |
|
|
| Severe Congenital Neutropenia 1 |
|
|
| Status Asthmaticus |
|
|
| Bronchopulmonary Dysplasia |
|
|
| Impetigo |
|
|
| Plasma Protein Metabolism Disease |
|
|
| Pulmonary Disease, Chronic Obstructive |
|
|
| Cystic Fibrosis |
|
|
| Kawasaki Disease |
|
|
| Pancreatitis |
|
|
| Cutis Laxa |
|
|
| Granulomatosis With Polyangiitis |
|
|
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
|
| Aortic Aneurysm, Familial Abdominal, 1 |
|
|
| Exocrine Pancreatic Insufficiency |
|
|
| Chronic Ulcer Of Skin |
|
|
| Severe Congenital Neutropenia 3 |
|
|
| Arthus Reaction |
|
|
| Bacterial Infectious Disease |
|
|
| Glomerulonephritis |
|
|
| Pulmonary Hypertension |
|
|
| Ligneous Conjunctivitis |
|
|
| Trigonitis |
|
|
| Pulmonary Fibrosis |
|
|
| Venous Insufficiency |
|
|
| Onchocerciasis |
|
|
| Papillon-Lefevre Syndrome |
|
|
| Periodontitis |
|
|
| Capillary Leak Syndrome |
|
|
| Peritonitis |
|
|
| Aggressive Periodontitis |
|
|
| Respiratory Failure |
|
|
| Otitis Media |
|
|
| Extrinsic Allergic Alveolitis |
|
|
| Bullous Pemphigoid |
|
|
| Pancreas Disease |
|
|
| Alcoholic Hepatitis |
|
|
| Aortic Aneurysm |
|
|
| Immunodeficiency 45 |
|
|
| Autoimmune Vasculitis |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Cerebral Aneurysms |
|
|
| Acute Hemorrhagic Pancreatitis |
|
|
| Vascular Disease |
|
|
| Interstitial Lung Disease 2 |
|
|
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
|
| Gastroesophageal Reflux |
|
|
| Psoriasis |
|
|
| Corticosteroid-Binding Globulin Deficiency |
|
|
| Asthma |
|
|
| Ehlers-Danlos Syndrome |
|
|
| Rheumatoid Arthritis |
|
|
| Inflammatory Bowel Disease |
|
|
| Chronic Endophthalmitis |
|
|
| Whim Syndrome 1 |
|
|
| Malaria |
|
|
| Gingival Disease |
|
|
| Cholangitis, Primary Sclerosing |
|
|
| Esophageal Cancer |
|
|
| Periodontitis, Aggressive, 1 |
|
|
| Heart Disease |
|
|
| Bacterial Pneumonia |
|
|
| Systemic Lupus Erythematosus |
|
|
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
|
| Melon Allergy |
|
|
| Myocardial Infarction |
|
|
| Preterm Premature Rupture Of The Membranes |
|
|
| Shwachman-Diamond Syndrome 1 |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Diabetes Mellitus |
|
|
| Primary Ciliary Dyskinesia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | ELANE | VGNC | VGNC:108243 |
| Rattus norvegicus | ELANE | RGD | RGD:1307968 |
| Macaca mulatta | ELANE | VGNC | VGNC:72199 |
| Felis catus | ELANE | VGNC | VGNC:78446 |
| Mus musculus | ELANE | MGD | MGI:2679229 |
| Bos taurus | ELANE | VGNC | VGNC:28423 |
| Others | ELANE | NCBI |