ELANE | ENSG00000197561 | NCBI 1991

Details for: ELANE

Gene ID: 1991

Symbol: ELANE

Ensembl ID: ENSG00000197561

Description: elastase, neutrophil expressed

Associated with

Activation of matrix metalloproteinases
(R-HSA-1592389)
Antimicrobial peptides
(R-HSA-6803157)
Collagen degradation
(R-HSA-1442490)
Complement cascade
(R-HSA-166658)
Degradation of the extracellular matrix
(R-HSA-1474228)
Extracellular matrix organization
(R-HSA-1474244)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Neutrophil degranulation
(R-HSA-6798695)
Programmed cell death
(R-HSA-5357801)
Pyroptosis
(R-HSA-5620971)
Regulated necrosis
(R-HSA-5218859)
Regulation of complement cascade
(R-HSA-977606)
Acute inflammatory response to antigenic stimulus
(GO:0002438)
Azurophil granule lumen
(GO:0035578)
Biosynthetic process of antibacterial peptides active against gram-negative bacteria
(GO:0002812)
Cell surface
(GO:0009986)
Collagen-containing extracellular matrix
(GO:0062023)
Cytokine binding
(GO:0019955)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Defense response to bacterium
(GO:0042742)
Endopeptidase activity
(GO:0004175)
Extracellular exosome
(GO:0070062)
Extracellular matrix disassembly
(GO:0022617)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Heparin binding
(GO:0008201)
Intracellular calcium ion homeostasis
(GO:0006874)
Leukocyte migration involved in inflammatory response
(GO:0002523)
Negative regulation of chemokine production
(GO:0032682)
Negative regulation of chemotaxis
(GO:0050922)
Negative regulation of inflammatory response
(GO:0050728)
Negative regulation of interleukin-8 production
(GO:0032717)
Negative regulation of transcription by rna polymerase ii
(GO:0000122)
Neutrophil-mediated killing of fungus
(GO:0070947)
Neutrophil-mediated killing of gram-negative bacterium
(GO:0070945)
Peptidase activity
(GO:0008233)
Phagocytic vesicle
(GO:0045335)
Phagocytosis
(GO:0006909)
Positive regulation of immune response
(GO:0050778)
Positive regulation of interleukin-8 production
(GO:0032757)
Positive regulation of leukocyte tethering or rolling
(GO:1903238)
Positive regulation of map kinase activity
(GO:0043406)
Positive regulation of smooth muscle cell proliferation
(GO:0048661)
Protease binding
(GO:0002020)
Protein binding
(GO:0005515)
Protein catabolic process
(GO:0030163)
Proteolysis
(GO:0006508)
Pyroptotic inflammatory response
(GO:0070269)
Response to lipopolysaccharide
(GO:0032496)
Response to uv
(GO:0009411)
Response to yeast
(GO:0001878)
Secretory granule
(GO:0030141)
Serine-type endopeptidase activity
(GO:0004252)
Specific granule lumen
(GO:0035580)
Transcription corepressor activity
(GO:0003714)
Transcription repressor complex
(GO:0017053)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: late promyelocyte (CL0002151)
Fold Change: 8.8165
Cell Significance Index: 58.4900
Cell Name: early promyelocyte (CL0002154)
Fold Change: 8.3244
Cell Significance Index: 53.1400
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 6.6231
Cell Significance Index: 102.4700
Cell Name: reticular cell (CL0000432)
Fold Change: 4.8234
Cell Significance Index: 30.7300
Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 3.7060
Cell Significance Index: -0.9400
Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 0.8192
Cell Significance Index: -1.0100
Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 0.6893
Cell Significance Index: -2.7200
Cell Name: decidual cell (CL2000002)
Fold Change: 0.6308
Cell Significance Index: 10.1200
Cell Name: keratocyte (CL0002363)
Fold Change: 0.3101
Cell Significance Index: 4.9200
Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 0.2737
Cell Significance Index: 13.8300
Cell Name: preadipocyte (CL0002334)
Fold Change: 0.2249
Cell Significance Index: 4.3900
Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 0.0928
Cell Significance Index: 1.5900
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.0752
Cell Significance Index: 1.0800
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 0.0446
Cell Significance Index: 0.3000
Cell Name: pancreatic stellate cell (CL0002410)
Fold Change: 0.0222
Cell Significance Index: 0.2800
Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
Fold Change: 0.0194
Cell Significance Index: 0.1800
Cell Name: odontoblast (CL0000060)
Fold Change: 0.0143
Cell Significance Index: 1.8300
Cell Name: thymocyte (CL0000893)
Fold Change: 0.0087
Cell Significance Index: 0.1100
Cell Name: unswitched memory B cell (CL0000970)
Fold Change: 0.0062
Cell Significance Index: 0.0500
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.0036
Cell Significance Index: 1.6300
Cell Name: cytotoxic T cell (CL0000910)
Fold Change: 0.0034
Cell Significance Index: 0.0500
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.0022
Cell Significance Index: 0.4500
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0004
Cell Significance Index: -0.7900
Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0008
Cell Significance Index: -1.5600
Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0012
Cell Significance Index: -1.7800
Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0015
Cell Significance Index: -2.0300
Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.0019
Cell Significance Index: -0.0800
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0023
Cell Significance Index: -0.3200
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0025
Cell Significance Index: -1.5700
Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0025
Cell Significance Index: -1.8500
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0028
Cell Significance Index: -1.5700
Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0040
Cell Significance Index: -3.0300
Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0042
Cell Significance Index: -2.3100
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0056
Cell Significance Index: -0.8200
Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0060
Cell Significance Index: -1.0900
Cell Name: connective tissue cell (CL0002320)
Fold Change: -0.0062
Cell Significance Index: -0.0600
Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: -0.0064
Cell Significance Index: -2.2900
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0069
Cell Significance Index: -1.9900
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0090
Cell Significance Index: -1.5300
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0112
Cell Significance Index: -1.2800
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.0122
Cell Significance Index: -0.3500
Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.0128
Cell Significance Index: -2.5500
Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.0154
Cell Significance Index: -0.2200
Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.0163
Cell Significance Index: -2.0100
Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
Fold Change: -0.0197
Cell Significance Index: -0.3400
Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0200
Cell Significance Index: -2.0500
Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0208
Cell Significance Index: -2.4200
Cell Name: lactocyte (CL0002325)
Fold Change: -0.0217
Cell Significance Index: -2.8000
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.0223
Cell Significance Index: -2.3200
Cell Name: fibroblast of the aortic adventitia (CL0002547)
Fold Change: -0.0243
Cell Significance Index: -0.2500
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: -0.0252
Cell Significance Index: -0.2800
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0266
Cell Significance Index: -2.0400
Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.0321
Cell Significance Index: -1.5100
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0341
Cell Significance Index: -2.5500
Cell Name: mesangial cell (CL0000650)
Fold Change: -0.0356
Cell Significance Index: -0.4500
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.0364
Cell Significance Index: -1.7000
Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.0408
Cell Significance Index: -2.6300
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.0435
Cell Significance Index: -2.2600
Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.0438
Cell Significance Index: -2.2800
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.0460
Cell Significance Index: -1.5100
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.0494
Cell Significance Index: -2.2400
Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.0508
Cell Significance Index: -2.8500
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.0516
Cell Significance Index: -1.4100
Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.0530
Cell Significance Index: -1.1100
Cell Name: immature neutrophil (CL0000776)
Fold Change: -0.0531
Cell Significance Index: -0.4100
Cell Name: prostate stromal cell (CL0002622)
Fold Change: -0.0546
Cell Significance Index: -0.2600
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.0580
Cell Significance Index: -1.4900
Cell Name: hepatoblast (CL0005026)
Fold Change: -0.0583
Cell Significance Index: -0.9800
Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
Fold Change: -0.0591
Cell Significance Index: -0.8300
Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.0599
Cell Significance Index: -2.6500
Cell Name: stromal cell (CL0000499)
Fold Change: -0.0626
Cell Significance Index: -0.6400
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: -0.0633
Cell Significance Index: -1.1700
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.0633
Cell Significance Index: -2.0200
Cell Name: squamous epithelial cell (CL0000076)
Fold Change: -0.0633
Cell Significance Index: -0.7700
Cell Name: keratinocyte (CL0000312)
Fold Change: -0.0645
Cell Significance Index: -1.6100
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.0665
Cell Significance Index: -2.3300
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.0667
Cell Significance Index: -2.4500
Cell Name: lens fiber cell (CL0011004)
Fold Change: -0.0677
Cell Significance Index: -2.1400
Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
Fold Change: -0.0679
Cell Significance Index: -0.7500
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: -0.0694
Cell Significance Index: -1.6800
Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.0708
Cell Significance Index: -2.6800
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0709
Cell Significance Index: -2.4900
Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: -0.0726
Cell Significance Index: -0.6100
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.0740
Cell Significance Index: -2.1800
Cell Name: fibroblast (CL0000057)
Fold Change: -0.0756
Cell Significance Index: -0.7100
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.0758
Cell Significance Index: -2.1200
Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.0769
Cell Significance Index: -3.1500
Cell Name: duct epithelial cell (CL0000068)
Fold Change: -0.0796
Cell Significance Index: -1.1000
Cell Name: epithelial cell of lacrimal sac (CL1000436)
Fold Change: -0.0855
Cell Significance Index: -0.6200
Cell Name: early T lineage precursor (CL0002425)
Fold Change: -0.0861
Cell Significance Index: -1.2500
Cell Name: erythrocyte (CL0000232)
Fold Change: -0.0911
Cell Significance Index: -2.3200
Cell Name: type I muscle cell (CL0002211)
Fold Change: -0.0934
Cell Significance Index: -2.2800
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: -0.0942
Cell Significance Index: -1.8400
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.0946
Cell Significance Index: -2.3600
Cell Name: ON-bipolar cell (CL0000749)
Fold Change: -0.0947
Cell Significance Index: -1.0700
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.0951
Cell Significance Index: -1.8800
Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.0962
Cell Significance Index: -1.6100
Cell Name: myoepithelial cell (CL0000185)
Fold Change: -0.0970
Cell Significance Index: -1.1000
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.0976
Cell Significance Index: -2.6200
Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.0977
Cell Significance Index: -2.1400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

**Key Characteristics:** 1. **Expression:** NE is primarily expressed in neutrophils, but also in other cells, including endothelial cells, mural cells, and some types of stem cells. 2. **Function:** NE has a wide range of functions, including antimicrobial activity against gram-negative bacteria, degradation of extracellular matrix, and regulation of inflammatory responses. 3. **Structure:** NE is a serine protease, consisting of 231 amino acids, with a characteristic four-domain structure. 4. **Regulation:** NE is regulated by various mechanisms, including post-translational modifications, protein-protein interactions, and transcriptional control. **Pathways and Functions:** 1. **Antimicrobial Activity:** NE is a potent antimicrobial agent, capable of killing gram-negative bacteria by disrupting their outer membrane and releasing pro-inflammatory mediators. 2. **Extracellular Matrix Degradation:** NE degrades collagen and other extracellular matrix components, facilitating neutrophil migration and tissue repair. 3. **Inflammatory Response Regulation:** NE modulates inflammatory responses by regulating the production of cytokines, chemokines, and other pro-inflammatory mediators. 4. **Cell Surface and Cytoskeleton Interaction:** NE interacts with various cell surface receptors and cytoskeletal components, influencing cell signaling and migration. 5. **Regulation of Complement Cascade:** NE regulates the complement cascade, a crucial component of the innate immune response, by modulating the activity of complement proteins. **Clinical Significance:** 1. **Inflammatory Disorders:** Dysregulation of NE has been implicated in various inflammatory disorders, including chronic obstructive pulmonary disease (COPD), cystic fibrosis, and rheumatoid arthritis. 2. **Cardiovascular Disease:** NE has been linked to cardiovascular disease, including atherosclerosis and myocardial infarction, due to its role in extracellular matrix degradation and inflammation. 3. **Cancer:** NE has been implicated in cancer progression, particularly in solid tumors, where it contributes to tumor growth, angiogenesis, and metastasis. 4. **Neurological Disorders:** NE has been linked to various neurological disorders, including Alzheimer's disease, Parkinson's disease, and multiple sclerosis, where it contributes to neuroinflammation and neuronal damage. In conclusion, the ELANE gene and its product, Neutrophil Elastase, play a critical role in the immune response, with implications for various diseases. Further research is needed to fully elucidate the mechanisms of NE regulation and its role in disease pathogenesis.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Neutrophil elastase

Genular Protein ID: 3405886472

Symbol: ELNE_HUMAN

Name: Neutrophil elastase

UniProtKB Accession Codes:

P08246 P09649 Q6B0D9 Q6LDP5

Database IDs:

Citations:

PubMed ID: 3479752

Title: Nucleotide sequence of human bone marrow serine protease (medullasin) gene.

PubMed ID: 3479752

DOI: 10.1093/nar/15.22.9601

PubMed ID: 2902087

Title: Structure of the human neutrophil elastase gene.

PubMed ID: 2902087

DOI: 10.1016/s0021-9258(18)68099-8

PubMed ID: 2775493

Title: The human neutrophil elastase gene. Analysis of the nucleotide sequence reveals three distinct classes of repetitive DNA.

PubMed ID: 2775493

DOI: 10.1515/bchm3.1989.370.2.737

PubMed ID: 2322278

Title: Functional expression of human leukocyte elastase (HLE)/medullasin in eukaryotic cells.

PubMed ID: 2322278

DOI: 10.1016/0006-291x(90)90668-d

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2822677

Title: Molecular cloning of complementary DNA for human medullasin: an inflammatory serine protease in bone marrow cells.

PubMed ID: 2822677

DOI: 10.1093/oxfordjournals.jbchem.a122024

PubMed ID: 3550808

Title: Primary structure of human neutrophil elastase.

PubMed ID: 3550808

DOI: 10.1073/pnas.84.8.2228

PubMed ID: 2501794

Title: Antibiotic proteins of human polymorphonuclear leukocytes.

PubMed ID: 2501794

DOI: 10.1073/pnas.86.14.5610

PubMed ID: 7897245

Title: Use of proteinase 3 purified by reverse phase HPLC to detect autoantibodies in systemic vasculitis.

PubMed ID: 7897245

DOI: 10.1016/0022-1759(94)00295-8

PubMed ID: 3422232

Title: Myelomonocytic cell lineage expression of the neutrophil elastase gene.

PubMed ID: 3422232

DOI: 10.1016/s0021-9258(18)69241-5

PubMed ID: 26274980

Title: Complementary LC-MS/MS-Based N-Glycan, N-Glycopeptide, and Intact N-Glycoprotein Profiling Reveals Unconventional Asn71-Glycosylation of Human Neutrophil Cathepsin G.

PubMed ID: 26274980

DOI: 10.3390/biom5031832

PubMed ID: 2462434

Title: Molecular cloning of human neutrophil elastase.

PubMed ID: 2462434

PubMed ID: 1859409

Title: The primary structure and elastinolytic activity of medullasin (a serine protease of bone marrow).

PubMed ID: 1859409

DOI: 10.1016/0006-291x(91)90135-t

PubMed ID: 10947984

Title: Degradation of outer membrane protein A in Escherichia coli killing by neutrophil elastase.

PubMed ID: 10947984

DOI: 10.1126/science.289.5482.1185

PubMed ID: 15140022

Title: Human leukocyte elastase and cathepsin G are specific inhibitors of C5a-dependent neutrophil enzyme release and chemotaxis.

PubMed ID: 15140022

DOI: 10.1111/j.0906-6705.2004.00145.x

PubMed ID: 14673143

Title: A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.

PubMed ID: 14673143

DOI: 10.1128/mcb.24.1.58-70.2004

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 36899106

Title: Distinct GSDMB protein isoforms and protease cleavage processes differentially control pyroptotic cell death and mitochondrial damage in cancer cells.

PubMed ID: 36899106

DOI: 10.1038/s41418-023-01143-y

PubMed ID: 2911584

Title: Structure of human neutrophil elastase in complex with a peptide chloromethyl ketone inhibitor at 1.84-A resolution.

PubMed ID: 2911584

DOI: 10.1073/pnas.86.1.7

PubMed ID: 3391280

Title: The refined 2.3-A crystal structure of human leukocyte elastase in a complex with a valine chloromethyl ketone inhibitor.

PubMed ID: 3391280

DOI: 10.1016/0014-5793(88)80118-2

PubMed ID: 3640709

Title: X-ray crystal structure of the complex of human leukocyte elastase (PMN elastase) and the third domain of the turkey ovomucoid inhibitor.

PubMed ID: 3640709

DOI: 10.1002/j.1460-2075.1986.tb04521.x

PubMed ID: 10581030

Title: Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

PubMed ID: 10581030

DOI: 10.1038/70544

PubMed ID: 11001877

Title: Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.

PubMed ID: 11001877

PubMed ID: 11675333

Title: Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.

PubMed ID: 11675333

DOI: 10.1182/blood.v98.9.2645

PubMed ID: 12091371

Title: Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.

PubMed ID: 12091371

DOI: 10.1182/blood-2002-01-0060

PubMed ID: 14962902

Title: Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

PubMed ID: 14962902

DOI: 10.1182/blood-2003-10-3518

PubMed ID: 17436313

Title: Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

PubMed ID: 17436313

DOI: 10.1002/humu.20529

PubMed ID: 18946670

Title: A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia.

PubMed ID: 18946670

DOI: 10.1007/s00277-008-0629-y

PubMed ID: 19036076

Title: Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

PubMed ID: 19036076

DOI: 10.1111/j.1365-2141.2008.07493.x

PubMed ID: 19415009

Title: Ela2 mutations and clinical manifestations in familial congenital neutropenia.

PubMed ID: 19415009

DOI: 10.1097/mph.0b013e3181984dbe

PubMed ID: 20220065

Title: Digenic mutations in severe congenital neutropenia.

PubMed ID: 20220065

DOI: 10.3324/haematol.2009.017665

PubMed ID: 19927291

Title: Pegfilgrastim in children with severe congenital neutropenia.

PubMed ID: 19927291

DOI: 10.1002/pbc.22350

PubMed ID: 20803142

Title: Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.

PubMed ID: 20803142

DOI: 10.1007/s00277-010-1056-4

PubMed ID: 21425445

Title: Four novel ELANE mutations in patients with congenital neutropenia.

PubMed ID: 21425445

DOI: 10.1002/pbc.23104

PubMed ID: 23463630

Title: The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

PubMed ID: 23463630

DOI: 10.1002/humu.22308

Sequence Information:

Length: 267
Mass: 28518
Checksum: 3F7610DC33CAA4B9
Sequence:

MTLGRRLACL FLACVLPALL LGGTALASEI VGGRRARPHA WPFMVSLQLR GGHFCGATLI 
APNFVMSAAH CVANVNVRAV RVVLGAHNLS RREPTRQVFA VQRIFENGYD PVNLLNDIVI 
LQLNGSATIN ANVQVAQLPA QGRRLGNGVQ CLAMGWGLLG RNRGIASVLQ ELNVTVVTSL 
CRRSNVCTLV RGRQAGVCFG DSGSPLVCNG LIHGIASFVR GGCASGLYPD AFAPVAQFVN 
WIDSIIQRSE DNPCPHPRDP DPASRTH

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ELANE

Associated with

Cells (max top 100)

Other Information

Nucleotide sequence of human bone marrow serine protease (medullasin) gene. PubMed ID: 3479752

Structure of the human neutrophil elastase gene. PubMed ID: 2902087

The human neutrophil elastase gene. Analysis of the nucleotide sequence reveals three distinct classes of repetitive DNA. PubMed ID: 2775493

Functional expression of human leukocyte elastase (HLE)/medullasin in eukaryotic cells. PubMed ID: 2322278

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Molecular cloning of complementary DNA for human medullasin: an inflammatory serine protease in bone marrow cells. PubMed ID: 2822677

Primary structure of human neutrophil elastase. PubMed ID: 3550808

Antibiotic proteins of human polymorphonuclear leukocytes. PubMed ID: 2501794

Use of proteinase 3 purified by reverse phase HPLC to detect autoantibodies in systemic vasculitis. PubMed ID: 7897245

Myelomonocytic cell lineage expression of the neutrophil elastase gene. PubMed ID: 3422232

Complementary LC-MS/MS-Based N-Glycan, N-Glycopeptide, and Intact N-Glycoprotein Profiling Reveals Unconventional Asn71-Glycosylation of Human Neutrophil Cathepsin G. PubMed ID: 26274980

Molecular cloning of human neutrophil elastase. PubMed ID: 2462434

The primary structure and elastinolytic activity of medullasin (a serine protease of bone marrow). PubMed ID: 1859409

Degradation of outer membrane protein A in Escherichia coli killing by neutrophil elastase. PubMed ID: 10947984

Human leukocyte elastase and cathepsin G are specific inhibitors of C5a-dependent neutrophil enzyme release and chemotaxis. PubMed ID: 15140022

A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. PubMed ID: 14673143

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. PubMed ID: 19159218

Initial characterization of the human central proteome. PubMed ID: 21269460

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Distinct GSDMB protein isoforms and protease cleavage processes differentially control pyroptotic cell death and mitochondrial damage in cancer cells. PubMed ID: 36899106

Structure of human neutrophil elastase in complex with a peptide chloromethyl ketone inhibitor at 1.84-A resolution. PubMed ID: 2911584

The refined 2.3-A crystal structure of human leukocyte elastase in a complex with a valine chloromethyl ketone inhibitor. PubMed ID: 3391280

X-ray crystal structure of the complex of human leukocyte elastase (PMN elastase) and the third domain of the turkey ovomucoid inhibitor. PubMed ID: 3640709

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. PubMed ID: 10581030

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. PubMed ID: 11001877

Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. PubMed ID: 11675333

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. PubMed ID: 12091371

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. PubMed ID: 14962902

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. PubMed ID: 17436313

A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia. PubMed ID: 18946670

Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. PubMed ID: 19036076

Ela2 mutations and clinical manifestations in familial congenital neutropenia. PubMed ID: 19415009

Digenic mutations in severe congenital neutropenia. PubMed ID: 20220065

Pegfilgrastim in children with severe congenital neutropenia. PubMed ID: 19927291

Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. PubMed ID: 20803142

Four novel ELANE mutations in patients with congenital neutropenia. PubMed ID: 21425445

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. PubMed ID: 23463630