Details for: ELANE

Gene ID: 1991

Symbol: ELANE

Ensembl ID: ENSG00000197561

Description: elastase, neutrophil expressed

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.15
    Marker Score: 2166
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169563
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.4
    Marker Score: 2160
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 1.19
    Marker Score: 434
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 1.15
    Marker Score: 495
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.14
    Marker Score: 7589
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 1.09
    Marker Score: 274
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 798
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71831
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48055.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.98
    Marker Score: 2478
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5353
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.86
    Marker Score: 428
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.83
    Marker Score: 524.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.75
    Marker Score: 543
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.59
    Marker Score: 388
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.57
    Marker Score: 457
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.52
    Marker Score: 3097
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.49
    Marker Score: 368
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.48
    Marker Score: 118
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 278
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.43
    Marker Score: 223
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.35
    Marker Score: 198
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.34
    Marker Score: 220
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.33
    Marker Score: 717
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.31
    Marker Score: 77
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.3
    Marker Score: 79
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.28
    Marker Score: 135
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.27
    Marker Score: 552.5
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.26
    Marker Score: 220
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.24
    Marker Score: 255
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.23
    Marker Score: 185
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.22
    Marker Score: 214
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.21
    Marker Score: 122
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.2
    Marker Score: 47
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.2
    Marker Score: 84
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.19
    Marker Score: 472
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 0.18
    Marker Score: 101
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 0.18
    Marker Score: 77
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.17
    Marker Score: 76
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.16
    Marker Score: 80.5
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.15
    Marker Score: 63
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.15
    Marker Score: 38
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.14
    Marker Score: 169
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.14
    Marker Score: 440
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.14
    Marker Score: 372
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.14
    Marker Score: 104
  • Cell Name: immature neutrophil (CL0000776)
    Fold Change: 0.14
    Marker Score: 47
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.14
    Marker Score: 598
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.13
    Marker Score: 315
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.13
    Marker Score: 136
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.13
    Marker Score: 85
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.13
    Marker Score: 73
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.13
    Marker Score: 163
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.12
    Marker Score: 54
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.12
    Marker Score: 144
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.11
    Marker Score: 41
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.11
    Marker Score: 28
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.11
    Marker Score: 39
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.11
    Marker Score: 28
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.11
    Marker Score: 112
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.11
    Marker Score: 61
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 0.11
    Marker Score: 81
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.11
    Marker Score: 49
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.1
    Marker Score: 424
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.1
    Marker Score: 35
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.1
    Marker Score: 36
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.1
    Marker Score: 167
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.09
    Marker Score: 32
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.09
    Marker Score: 30
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.09
    Marker Score: 44
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.09
    Marker Score: 536
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.09
    Marker Score: 49
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.09
    Marker Score: 21
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.08
    Marker Score: 28
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.08
    Marker Score: 73
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.08
    Marker Score: 43
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.08
    Marker Score: 4475
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.08
    Marker Score: 21
  • Cell Name: vasa recta descending limb cell (CL1001285)
    Fold Change: 0.08
    Marker Score: 21
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.08
    Marker Score: 24
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.08
    Marker Score: 17
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.08
    Marker Score: 26
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.07
    Marker Score: 26
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.07
    Marker Score: 138
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.07
    Marker Score: 55
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 0.07
    Marker Score: 58.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.07
    Marker Score: 22
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 0.07
    Marker Score: 18
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.07
    Marker Score: 69
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.07
    Marker Score: 23

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Other Information

**Key characteristics:** * ELANE is a serine endopeptidase that is expressed in high levels in the blood vessel endothelial cells of blood vessels. * It is also expressed in mural cells, mesenchymal stem cells, reticular cells, myelocytes, goblet cells, late promyelocytes, early T-lineage precursor cells, and cerebral cortex GABAergic interneurons. * ELANE is a key regulator of inflammation and tissue remodeling. * It is involved in the activation of matrix metalloproteinases, antimicrobial peptides, collagen degradation, the complement cascade, and the regulation of the extracellular matrix. **Pathways and functions:** * ELANE is involved in the activation of matrix metalloproteinases, which are enzymes that break down components of the extracellular matrix. * It also plays a role in the activation of antimicrobial peptides, which are peptides that can kill microorganisms. * ELANE is involved in the degradation of collagen, a protein that is a component of the extracellular matrix. * It also plays a role in the regulation of inflammation and tissue remodeling. **Clinical significance:** * Mutations in ELANE have been linked to a number of human diseases, including atherosclerosis, restenosis, and rheumatoid arthritis. * ELANE inhibitors are being investigated as potential treatments for these diseases.

Genular Protein ID: 3405886472

Symbol: ELNE_HUMAN

Name: Neutrophil elastase

UniProtKB Accession Codes:

P08246 P09649 Q6B0D9 Q6LDP5

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 8 DrugCentral 1 EC 1 EMBL 14 Ensembl 4 EvolutionaryTrace 1 GO 44 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 35 PDBsum 31 PIR 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 3 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 7 RefSeq 3 SABIO-RK 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.