P08246 · ELNE_HUMAN

  • Protein
    Neutrophil elastase
  • Gene
    ELANE
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Serine protease that modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022).
Promotes cleavage of GSDMB, thereby inhibiting pyroptosis (PubMed:36899106).
Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae (PubMed:10947984).

Catalytic activity

  • Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.
    EC:3.4.21.37 (UniProtKB | ENZYME | Rhea)

Features

Showing features for active site.

126720406080100120140160180200220240260
TypeIDPosition(s)Description
Active site70Charge relay system
Active site117Charge relay system
Active site202Charge relay system

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentazurophil granule lumen
Cellular Componentcell surface
Cellular Componentcollagen-containing extracellular matrix
Cellular Componentcytoplasm
Cellular Componentcytosol
Cellular Componentextracellular exosome
Cellular Componentextracellular region
Cellular Componentextracellular space
Cellular Componentphagocytic vesicle
Cellular Componentsecretory granule
Cellular Componentspecific granule lumen
Cellular Componenttranscription repressor complex
Molecular Functioncytokine binding
Molecular Functionendopeptidase activity
Molecular Functionheparin binding
Molecular Functionpeptidase activity
Molecular Functionprotease binding
Molecular Functionserine-type endopeptidase activity
Molecular Functiontranscription corepressor activity
Biological Processacute inflammatory response to antigenic stimulus
Biological Processbiosynthetic process of antibacterial peptides active against Gram-negative bacteria
Biological Processdefense response to bacterium
Biological Processextracellular matrix disassembly
Biological Processintracellular calcium ion homeostasis
Biological Processleukocyte migration involved in inflammatory response
Biological Processnegative regulation of chemokine production
Biological Processnegative regulation of chemotaxis
Biological Processnegative regulation of inflammatory response
Biological Processnegative regulation of interleukin-8 production
Biological Processnegative regulation of transcription by RNA polymerase II
Biological Processneutrophil-mediated killing of fungus
Biological Processneutrophil-mediated killing of gram-negative bacterium
Biological Processphagocytosis
Biological Processpositive regulation of immune response
Biological Processpositive regulation of interleukin-8 production
Biological Processpositive regulation of leukocyte tethering or rolling
Biological Processpositive regulation of MAP kinase activity
Biological Processpositive regulation of smooth muscle cell proliferation
Biological Processprotein catabolic process
Biological Processproteolysis
Biological Processpyroptotic inflammatory response
Biological Processresponse to lipopolysaccharide
Biological Processresponse to UV
Biological Processresponse to yeast

Keywords

Enzyme and pathway databases

Protein family/group databases

Names & Taxonomy

Protein names

  • Recommended name
    Neutrophil elastase
  • EC number
  • Alternative names
    • Bone marrow serine protease
    • Elastase-2
    • Human leukocyte elastase (HLE)
    • Medullasin
    • PMN elastase

Gene names

    • Name
      ELANE
    • Synonyms
      ELA2

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    P08246
  • Secondary accessions
    • P09649
    • Q6B0D9
    • Q6LDP5

Proteomes

Organism-specific databases

Disease & Variants

Involvement in disease

Cyclic haematopoiesis (CH)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency.
  • See also
    MIM:162800
Natural variants in CH
Variant IDPosition(s)ChangeDescription
VAR_07069743F>Lin SCN1 and CH
VAR_07070045V>Lin CH
VAR_07070246S>Fin CH and SCN1; dbSNP:rs878855320
VAR_07070753H>Qin CH
VAR_07071561A>Vin SCN1 and CH; dbSNP:rs137854447
VAR_07072381R>Pin SCN1 and CH
VAR_07072482V>Min SCN1 and CH
VAR_07072797Q>Lin CH
VAR_070731104I>Nin CH
VAR_070733120I>Fin SCN1 and CH; dbSNP:rs1131691520
VAR_038619126S>Lin SCN1 and CH; dbSNP:rs137854450
VAR_038620139P>Lin SCN1 and CH; dbSNP:rs137854448
VAR_070746143R>Hin CH; uncertain significance; dbSNP:rs200993994
VAR_038622190-199missingin SCN1 and CH
VAR_070755203G>Cin SCN1 and CH
VAR_070757206L>Fin CH; dbSNP:rs137854446
VAR_070760209N>Iin CH
VAR_070761210G>Win CH
VAR_070763220R>Qin CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage; dbSNP:rs137854445

Neutropenia, severe congenital 1, autosomal dominant (SCN1)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.
  • See also
    MIM:202700
Natural variants in SCN1
Variant IDPosition(s)ChangeDescription
VAR_06451225A>Vin SCN1; dbSNP:rs1396230082
VAR_07069642P>Lin SCN1
VAR_07069743F>Lin SCN1 and CH
VAR_07069844M>Rin SCN1
VAR_07069945V>Ein SCN1
VAR_07070146S>Cin SCN1
VAR_07070246S>Fin CH and SCN1; dbSNP:rs878855320
VAR_07070347L>Pin SCN1; dbSNP:rs878855319
VAR_07070447L>Rin SCN1
VAR_07070549L>Pin SCN1
VAR_07070653H>Lin SCN1
VAR_07070853H>Yin SCN1; dbSNP:rs1131691882
VAR_07070955C>Sin SCN1
VAR_03860955C>Yin SCN1
VAR_07071056G>Rin SCN1
VAR_07071157A>Sin SCN1
VAR_03861057A>Tin SCN1
VAR_07071257A>Vin SCN1; dbSNP:rs1057520110
VAR_07071359L>Pin SCN1
VAR_03861160I>Tin SCN1
VAR_07071561A>Vin SCN1 and CH; dbSNP:rs137854447
VAR_07071665missingin SCN1
VAR_07071766-70missingin SCN1
VAR_07071867S>Win SCN1
VAR_07071971C>Fin SCN1; dbSNP:rs878855315
VAR_03861271C>Rin SCN1; dbSNP:rs28931611
VAR_03861371C>Sin SCN1
VAR_07072071C>Yin SCN1
VAR_07072172V>Gin SCN1
VAR_07072280V>Gin SCN1
VAR_07072381R>Pin SCN1 and CH
VAR_07072482V>Min SCN1 and CH
VAR_07072584L>Pin SCN1; dbSNP:rs1064793108
VAR_03861485G>Ein SCN1
VAR_07072685G>Rin SCN1
VAR_03861598V>Lin SCN1; located on the same allele as L-101; reduces proteolytic enzyme activity by slightly less than half; together with L-101 shows an additive effect with minimal remaining enzyme activity; dbSNP:rs267606781
VAR_07072898V>Min SCN1; dbSNP:rs267606781
VAR_038616101V>Lin SCN1; located on the same allele as L-98; reduces proteolytic enzyme activity by slightly less than half; together with L-98 shows an additive effect with minimal remaining enzyme activity; dbSNP:rs137854449
VAR_038617101V>Min SCN1; dbSNP:rs137854449
VAR_070729103R>Lin SCN1; dbSNP:rs745455816
VAR_070730103R>Pin SCN1
VAR_070733120I>Fin SCN1 and CH; dbSNP:rs1131691520
VAR_070734120I>Nin SCN1
VAR_070735120I>Sin SCN1
VAR_070736121L>Pin SCN1
VAR_070737123L>Hin SCN1
VAR_038618123L>PQLin SCN1
VAR_070738124N>Iin SCN1
VAR_038619126S>Lin SCN1 and CH; dbSNP:rs137854450
VAR_070740127A>Din SCN1
VAR_070741127A>Pin SCN1
VAR_070742131A>Tin SCN1; uncertain significance; dbSNP:rs201729066
VAR_070744136A>Din SCN1
VAR_038620139P>Lin SCN1 and CH; dbSNP:rs137854448
VAR_070745139P>Rin SCN1
VAR_070747151C>Fin SCN1; dbSNP:rs57246956
VAR_038621151C>Sin SCN1
VAR_070748151C>Win SCN1
VAR_070749151C>Yin SCN1; uncertain significance; dbSNP:rs57246956
VAR_070750152L>Pin SCN1
VAR_070751153A>Din SCN1
VAR_070752153A>Pin SCN1
VAR_070753156W>Cin SCN1
VAR_070754156W>Rin SCN1
VAR_064513166A>Tin SCN1; the patient also carries mutation Lys-116 in G6PC3; dbSNP:rs201788817
VAR_038622190-199missingin SCN1 and CH
VAR_070755203G>Cin SCN1 and CH
VAR_070756203G>Rin SCN1; dbSNP:rs201139487
VAR_038623205P>Rin SCN1; dbSNP:rs1555710077
VAR_070758206L>Sin SCN1
VAR_070759208C>Gin SCN1
VAR_038624210G>Vin SCN1
VAR_070762214G>Ein SCN1
VAR_038625214G>Rin SCN1; dbSNP:rs137854451
VAR_070763220R>Qin CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage; dbSNP:rs137854445
VAR_070764233A>Pin SCN1
VAR_070765235V>Ein SCN1
VAR_070766235V>Gin SCN1

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_06451225in SCN1; dbSNP:rs1396230082
Natural variantVAR_07069642in SCN1
Natural variantVAR_07069743in SCN1 and CH
Natural variantVAR_07069844in SCN1
Natural variantVAR_07069945in SCN1
Natural variantVAR_07070045in CH
Natural variantVAR_07070146in SCN1
Natural variantVAR_07070246in CH and SCN1; dbSNP:rs878855320
Natural variantVAR_07070347in SCN1; dbSNP:rs878855319
Natural variantVAR_07070447in SCN1
Natural variantVAR_07070549in SCN1
Natural variantVAR_07070653in SCN1
Natural variantVAR_07070753in CH
Natural variantVAR_07070853in SCN1; dbSNP:rs1131691882
Natural variantVAR_07070955in SCN1
Natural variantVAR_03860955in SCN1
Natural variantVAR_07071056in SCN1
Natural variantVAR_07071157in SCN1
Natural variantVAR_03861057in SCN1
Natural variantVAR_07071257in SCN1; dbSNP:rs1057520110
Natural variantVAR_07071359in SCN1
Natural variantVAR_03861160in SCN1
Natural variantVAR_07071460-61
Natural variantVAR_07071561in SCN1 and CH; dbSNP:rs137854447
Natural variantVAR_07071665in SCN1
Natural variantVAR_07071766-70in SCN1
Natural variantVAR_07071867in SCN1
Natural variantVAR_07071971in SCN1; dbSNP:rs878855315
Natural variantVAR_03861271in SCN1; dbSNP:rs28931611
Natural variantVAR_03861371in SCN1
Natural variantVAR_07072071in SCN1
Natural variantVAR_07072172in SCN1
Natural variantVAR_07072280in SCN1
Natural variantVAR_07072381in SCN1 and CH
Natural variantVAR_07072482in SCN1 and CH
Natural variantVAR_07072584in SCN1; dbSNP:rs1064793108
Natural variantVAR_03861485in SCN1
Natural variantVAR_07072685in SCN1
Natural variantVAR_07072797in CH
Natural variantVAR_03861598in SCN1; located on the same allele as L-101; reduces proteolytic enzyme activity by slightly less than half; together with L-101 shows an additive effect with minimal remaining enzyme activity; dbSNP:rs267606781
Natural variantVAR_07072898in SCN1; dbSNP:rs267606781
Natural variantVAR_038616101in SCN1; located on the same allele as L-98; reduces proteolytic enzyme activity by slightly less than half; together with L-98 shows an additive effect with minimal remaining enzyme activity; dbSNP:rs137854449
Natural variantVAR_038617101in SCN1; dbSNP:rs137854449
Natural variantVAR_070729103in SCN1; dbSNP:rs745455816
Natural variantVAR_070730103in SCN1
Natural variantVAR_070731104in CH
Natural variantVAR_070732118in dbSNP:rs1382122842
Natural variantVAR_070733120in SCN1 and CH; dbSNP:rs1131691520
Natural variantVAR_070734120in SCN1
Natural variantVAR_070735120in SCN1
Natural variantVAR_070736121in SCN1
Natural variantVAR_070737123in SCN1
Natural variantVAR_038618123in SCN1
Natural variantVAR_070738124in SCN1
Natural variantVAR_070739125in dbSNP:rs377698556
Natural variantVAR_038619126in SCN1 and CH; dbSNP:rs137854450
Natural variantVAR_070740127in SCN1
Natural variantVAR_070741127in SCN1
Natural variantVAR_070742131in SCN1; uncertain significance; dbSNP:rs201729066
Natural variantVAR_070743135in dbSNP:rs774457980
Natural variantVAR_070744136in SCN1
Natural variantVAR_038620139in SCN1 and CH; dbSNP:rs137854448
Natural variantVAR_070745139in SCN1
Natural variantVAR_070746143in CH; uncertain significance; dbSNP:rs200993994
Natural variantVAR_070747151in SCN1; dbSNP:rs57246956
Natural variantVAR_038621151in SCN1
Natural variantVAR_070748151in SCN1
Natural variantVAR_070749151in SCN1; uncertain significance; dbSNP:rs57246956
Natural variantVAR_070750152in SCN1
Natural variantVAR_070751153in SCN1
Natural variantVAR_070752153in SCN1
Natural variantVAR_070753156in SCN1
Natural variantVAR_070754156in SCN1
Natural variantVAR_064513166in SCN1; the patient also carries mutation Lys-116 in G6PC3; dbSNP:rs201788817
Natural variantVAR_038622190-199in SCN1 and CH
Natural variantVAR_070755203in SCN1 and CH
Natural variantVAR_070756203in SCN1; dbSNP:rs201139487
Natural variantVAR_038623205in SCN1; dbSNP:rs1555710077
Natural variantVAR_070757206in CH; dbSNP:rs137854446
Natural variantVAR_070758206in SCN1
Natural variantVAR_070759208in SCN1
Natural variantVAR_070760209in CH
Natural variantVAR_038624210in SCN1
Natural variantVAR_070761210in CH
Natural variantVAR_070762214in SCN1
Natural variantVAR_038625214in SCN1; dbSNP:rs137854451
Natural variantVAR_019237219in dbSNP:rs17216656
Natural variantVAR_070763220in CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage; dbSNP:rs137854445
Natural variantVAR_070764233in SCN1
Natural variantVAR_070765235in SCN1
Natural variantVAR_070766235in SCN1
Natural variantVAR_019238257in dbSNP:rs17216663
Natural variantVAR_019239262found in patients with severe congenital or cyclic neutropenia; dbSNP:rs17216670

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 849 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Chemistry

Genetic variation databases

PTM/Processing

Features

Showing features for signal, propeptide, chain, disulfide bond, glycosylation.

TypeIDPosition(s)Description
Signal1-27
PropeptidePRO_000002770328-29
ChainPRO_000002770430-267Neutrophil elastase
Disulfide bond55↔71
Glycosylation88N-linked (GlcNAc...) asparagine
Glycosylation124N-linked (GlcNAc...) asparagine
Disulfide bond151↔208
Glycosylation173N-linked (GlcNAc...) asparagine
Disulfide bond181↔187
Disulfide bond198↔223

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Bone marrow cells. Neutrophil (PubMed:10947984).

Gene expression databases

Organism-specific databases

Interaction

Subunit

Interacts with NOTCH2NL.

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
XENO P08246Col17a1 Q075632EBI-986345, EBI-6251005
XENO P08246S P0DTC22EBI-986345, EBI-25474821

Protein-protein interaction databases

Chemistry

Miscellaneous

Family & Domains

Features

Showing features for domain.

TypeIDPosition(s)Description
Domain30-247Peptidase S1

Sequence similarities

Belongs to the peptidase S1 family. Elastase subfamily.

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Sequence processing
    The displayed sequence is further processed into a mature form.
  • Length
    267
  • Mass (Da)
    28,518
  • Last updated
    1988-08-01 v1
  • Checksum
    3F7610DC33CAA4B9
MTLGRRLACLFLACVLPALLLGGTALASEIVGGRRARPHAWPFMVSLQLRGGHFCGATLIAPNFVMSAAHCVANVNVRAVRVVLGAHNLSRREPTRQVFAVQRIFENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLGNGVQCLAMGWGLLGRNRGIASVLQELNVTVVTSLCRRSNVCTLVRGRQAGVCFGDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVNWIDSIIQRSEDNPCPHPRDPDPASRTH

Sequence caution

The sequence CAA29300.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
Y00477
EMBL· GenBank· DDBJ
CAA68537.1
EMBL· GenBank· DDBJ
Genomic DNA
M20203
EMBL· GenBank· DDBJ
AAA36359.1
EMBL· GenBank· DDBJ
Genomic DNA
M20199
EMBL· GenBank· DDBJ
AAA36359.1
EMBL· GenBank· DDBJ
Genomic DNA
M20200
EMBL· GenBank· DDBJ
AAA36359.1
EMBL· GenBank· DDBJ
Genomic DNA
M20201
EMBL· GenBank· DDBJ
AAA36359.1
EMBL· GenBank· DDBJ
Genomic DNA
M34379
EMBL· GenBank· DDBJ
AAA36173.1
EMBL· GenBank· DDBJ
mRNA
AY596461
EMBL· GenBank· DDBJ
AAS89303.1
EMBL· GenBank· DDBJ
Genomic DNA
BC074816
EMBL· GenBank· DDBJ
AAH74816.1
EMBL· GenBank· DDBJ
mRNA
BC074817
EMBL· GenBank· DDBJ
AAH74817.1
EMBL· GenBank· DDBJ
mRNA
D00187
EMBL· GenBank· DDBJ
BAA00128.1
EMBL· GenBank· DDBJ
mRNA
X05875
EMBL· GenBank· DDBJ
CAA29299.1
EMBL· GenBank· DDBJ
mRNA
X05875
EMBL· GenBank· DDBJ
CAA29300.1
EMBL· GenBank· DDBJ
mRNA Different initiation
J03545
EMBL· GenBank· DDBJ
AAA52378.1
EMBL· GenBank· DDBJ
mRNA
M27783
EMBL· GenBank· DDBJ
AAA35792.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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