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Protein

Neutrophil elastase

Gene

ELANE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.1 Publication

Catalytic activityi

Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei70Charge relay system1
Active sitei117Charge relay system1
Active sitei202Charge relay system1

GO - Molecular functioni

  • cytokine binding Source: UniProtKB
  • endopeptidase activity Source: UniProtKB
  • heparin binding Source: MGI
  • peptidase activity Source: UniProtKB
  • protease binding Source: BHF-UCL
  • serine-type endopeptidase activity Source: GO_Central
  • transcription corepressor activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Protease, Serine protease

Enzyme and pathway databases

BRENDAi3.4.21.37 2681
ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1592389 Activation of Matrix Metalloproteinases
R-HSA-6798695 Neutrophil degranulation
R-HSA-6803157 Antimicrobial peptides
R-HSA-977606 Regulation of Complement cascade
SABIO-RKiP08246
SIGNORiP08246

Protein family/group databases

MEROPSiS01.131

Names & Taxonomyi

Protein namesi
Recommended name:
Neutrophil elastase (EC:3.4.21.37)
Alternative name(s):
Bone marrow serine protease
Elastase-2
Human leukocyte elastase
Short name:
HLE
Medullasin
PMN elastase
Gene namesi
Name:ELANE
Synonyms:ELA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000197561.6
HGNCiHGNC:3309 ELANE
MIMi130130 gene
neXtProtiNX_P08246

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Cyclic haematopoiesis (CH)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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 OMIM:162800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07070045V → L in CH. 1 Publication1
Natural variantiVAR_07070753H → Q in CH. 1
Natural variantiVAR_07072797Q → L in CH. 1 Publication1
Natural variantiVAR_070731104I → N in CH. 1 Publication1
Natural variantiVAR_070746143R → H in CH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200993994EnsemblClinVar.1
Natural variantiVAR_070757206L → F in CH. 1 PublicationCorresponds to variant dbSNP:rs137854446EnsemblClinVar.1
Natural variantiVAR_070760209N → I in CH. 1 Publication1
Natural variantiVAR_070761210G → W in CH. 1 Publication1
Neutropenia, severe congenital 1, autosomal dominant (SCN1)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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 OMIM:202700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06451225A → V in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs1396230082Ensembl.1
Natural variantiVAR_07069642P → L in SCN1. 3 Publications1
Natural variantiVAR_07069844M → R in SCN1. 1 Publication1
Natural variantiVAR_07069945V → E in SCN1. 1 Publication1
Natural variantiVAR_07070146S → C in SCN1. 1 Publication1
Natural variantiVAR_07070347L → P in SCN1. 1 PublicationCorresponds to variant dbSNP:rs878855319EnsemblClinVar.1
Natural variantiVAR_07070447L → R in SCN1. 1 Publication1
Natural variantiVAR_07070549L → P in SCN1. 1 Publication1
Natural variantiVAR_07070653H → L in SCN1. 1 Publication1
Natural variantiVAR_07070853H → Y in SCN1. 1 PublicationCorresponds to variant dbSNP:rs1131691882Ensembl.1
Natural variantiVAR_07070955C → S in SCN1. 1 Publication1
Natural variantiVAR_03860955C → Y in SCN1. 1 Publication1
Natural variantiVAR_07071056G → R in SCN1. 1 Publication1
Natural variantiVAR_07071157A → S in SCN1. 2 Publications1
Natural variantiVAR_03861057A → T in SCN1. 2 Publications1
Natural variantiVAR_07071257A → V in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs1057520110Ensembl.1
Natural variantiVAR_07071359L → P in SCN1. 2 Publications1
Natural variantiVAR_03861160I → T in SCN1. 2 Publications1
Natural variantiVAR_07071665Missing in SCN1. 1 Publication1
Natural variantiVAR_07071766 – 70Missing in SCN1. 1 Publication5
Natural variantiVAR_07071867S → W in SCN1. 1 Publication1
Natural variantiVAR_07071971C → F in SCN1. 1 PublicationCorresponds to variant dbSNP:rs878855315EnsemblClinVar.1
Natural variantiVAR_03861271C → R in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs28931611EnsemblClinVar.1
Natural variantiVAR_03861371C → S in SCN1. 1 Publication1
Natural variantiVAR_07072071C → Y in SCN1. 1 Publication1
Natural variantiVAR_07072172V → G in SCN1. 1 Publication1
Natural variantiVAR_07072280V → G in SCN1. 1 Publication1
Natural variantiVAR_07072584L → P in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs1064793108Ensembl.1
Natural variantiVAR_03861485G → E in SCN1. 2 Publications1
Natural variantiVAR_07072685G → R in SCN1. 1 Publication1
Natural variantiVAR_03861598V → L in 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. 2 PublicationsCorresponds to variant dbSNP:rs267606781EnsemblClinVar.1
Natural variantiVAR_07072898V → M in SCN1. 1 Publication1
Natural variantiVAR_038616101V → L in 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. 2 PublicationsCorresponds to variant dbSNP:rs137854449EnsemblClinVar.1
Natural variantiVAR_038617101V → M in SCN1. 3 PublicationsCorresponds to variant dbSNP:rs137854449EnsemblClinVar.1
Natural variantiVAR_070729103R → L in SCN1. 1 Publication1
Natural variantiVAR_070730103R → P in SCN1. 1 Publication1
Natural variantiVAR_070734120I → N in SCN1. 1 Publication1
Natural variantiVAR_070735120I → S in SCN1. 1 Publication1
Natural variantiVAR_070736121L → P in SCN1. 2 Publications1
Natural variantiVAR_070737123L → H in SCN1. 1 Publication1
Natural variantiVAR_038618123L → PQL in SCN1. 1
Natural variantiVAR_070738124N → I in SCN1. 1 Publication1
Natural variantiVAR_070740127A → D in SCN1. 1 Publication1
Natural variantiVAR_070741127A → P in SCN1. 1 Publication1
Natural variantiVAR_070742131A → T in SCN1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs201729066Ensembl.1
Natural variantiVAR_070744136A → D in SCN1. 1 Publication1
Natural variantiVAR_070745139P → R in SCN1. 1 Publication1
Natural variantiVAR_070747151C → F in SCN1. 1 PublicationCorresponds to variant dbSNP:rs57246956EnsemblClinVar.1
Natural variantiVAR_038621151C → S in SCN1. 1 Publication1
Natural variantiVAR_070748151C → W in SCN1. 1 Publication1
Natural variantiVAR_070749151C → Y in SCN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs57246956EnsemblClinVar.1
Natural variantiVAR_070750152L → P in SCN1. 3 Publications1
Natural variantiVAR_070751153A → D in SCN1. 1 Publication1
Natural variantiVAR_070752153A → P in SCN1. 1 Publication1
Natural variantiVAR_070753156W → C in SCN1. 1 Publication1
Natural variantiVAR_070754156W → R in SCN1. 1 Publication1
Natural variantiVAR_064513166A → T in SCN1; the patient also carries mutation Lys-116 in G6PC3. 2 PublicationsCorresponds to variant dbSNP:rs201788817Ensembl.1
Natural variantiVAR_070756203G → R in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs201139487Ensembl.1
Natural variantiVAR_038623205P → R in SCN1. 2 Publications1
Natural variantiVAR_070758206L → S in SCN1. 1 Publication1
Natural variantiVAR_070759208C → G in SCN1. 1 Publication1
Natural variantiVAR_038624210G → V in SCN1. 1 Publication1
Natural variantiVAR_070762214G → E in SCN1. 1 Publication1
Natural variantiVAR_038625214G → R in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs137854451EnsemblClinVar.1
Natural variantiVAR_070764233A → P in SCN1. 1 Publication1
Natural variantiVAR_070765235V → E in SCN1. 2 Publications1
Natural variantiVAR_070766235V → G in SCN1. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1991
GeneReviewsiELANE
MalaCardsiELANE
MIMi162800 phenotype
202700 phenotype
OpenTargetsiENSG00000197561
Orphaneti486 Autosomal dominant severe congenital neutropenia
2686 Cyclic neutropenia
PharmGKBiPA27735

Chemistry databases

ChEMBLiCHEMBL248
DrugBankiDB00058 Alpha-1-proteinase inhibitor
DB05161 Elafin
DB00099 Filgrastim
DB03925 ONO-6818
DB00019 Pegfilgrastim
GuidetoPHARMACOLOGYi2358

Polymorphism and mutation databases

BioMutaiELANE
DMDMi119292

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
PropeptideiPRO_000002770328 – 293 Publications2
ChainiPRO_000002770430 – 267Neutrophil elastaseAdd BLAST238

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi55 ↔ 71PROSITE-ProRule annotation1 Publication
Glycosylationi88N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi124N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi151 ↔ 208PROSITE-ProRule annotation1 Publication
Glycosylationi173N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi181 ↔ 187PROSITE-ProRule annotation1 Publication
Disulfide bondi198 ↔ 223PROSITE-ProRule annotation1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

PaxDbiP08246
PeptideAtlasiP08246
PRIDEiP08246
ProteomicsDBi52099

PTM databases

GlyConnecti1564
iPTMnetiP08246
PhosphoSitePlusiP08246

Expressioni

Tissue specificityi

Bone marrow cells.

Gene expression databases

BgeeiENSG00000197561 Expressed in 87 organ(s), highest expression level in bone marrow cell
CleanExiHS_ELA2
GenevisibleiP08246 HS

Organism-specific databases

HPAiCAB015409
HPA066836

Interactioni

Subunit structurei

Interacts with NOTCH2NL.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Col17a1Q075632EBI-986345,EBI-6251005From Mus musculus.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108306, 12 interactors
CORUMiP08246
IntActiP08246, 5 interactors
MINTiP08246
STRINGi9606.ENSP00000263621

Chemistry databases

BindingDBiP08246

Structurei

Secondary structure

1267
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP08246
SMRiP08246
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP08246

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 247Peptidase S1PROSITE-ProRule annotationAdd BLAST218

Sequence similaritiesi

Belongs to the peptidase S1 family. Elastase subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3627 Eukaryota
COG5640 LUCA
GeneTreeiENSGT00910000144219
HOGENOMiHOG000251820
HOVERGENiHBG013304
InParanoidiP08246
KOiK01327
OMAiWGRLGTN
OrthoDBiEOG091G0DF7
PhylomeDBiP08246

Family and domain databases

CDDicd00190 Tryp_SPc, 1 hit
InterProiView protein in InterPro
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER
PfamiView protein in Pfam
PF00089 Trypsin, 1 hit
PRINTSiPR00722 CHYMOTRYPSIN
SMARTiView protein in SMART
SM00020 Tryp_SPc, 1 hit
SUPFAMiSSF50494 SSF50494, 1 hit
PROSITEiView protein in PROSITE
PS50240 TRYPSIN_DOM, 1 hit
PS00134 TRYPSIN_HIS, 1 hit
PS00135 TRYPSIN_SER, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P08246-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTLGRRLACL FLACVLPALL LGGTALASEI VGGRRARPHA WPFMVSLQLR
60 70 80 90 100
GGHFCGATLI APNFVMSAAH CVANVNVRAV RVVLGAHNLS RREPTRQVFA
110 120 130 140 150
VQRIFENGYD PVNLLNDIVI LQLNGSATIN ANVQVAQLPA QGRRLGNGVQ
160 170 180 190 200
CLAMGWGLLG RNRGIASVLQ ELNVTVVTSL CRRSNVCTLV RGRQAGVCFG
210 220 230 240 250
DSGSPLVCNG LIHGIASFVR GGCASGLYPD AFAPVAQFVN WIDSIIQRSE
260
DNPCPHPRDP DPASRTH
Length:267
Mass (Da):28,518
Last modified:August 1, 1988 - v1
Checksum:i3F7610DC33CAA4B9
GO

Sequence cautioni

The sequence CAA29300 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06451225A → V in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs1396230082Ensembl.1
Natural variantiVAR_07069642P → L in SCN1. 3 Publications1
Natural variantiVAR_07069743F → L in SCN1 and CH. 2 Publications1
Natural variantiVAR_07069844M → R in SCN1. 1 Publication1
Natural variantiVAR_07069945V → E in SCN1. 1 Publication1
Natural variantiVAR_07070045V → L in CH. 1 Publication1
Natural variantiVAR_07070146S → C in SCN1. 1 Publication1
Natural variantiVAR_07070246S → F in CH and SCN1. 2 PublicationsCorresponds to variant dbSNP:rs878855320EnsemblClinVar.1
Natural variantiVAR_07070347L → P in SCN1. 1 PublicationCorresponds to variant dbSNP:rs878855319EnsemblClinVar.1
Natural variantiVAR_07070447L → R in SCN1. 1 Publication1
Natural variantiVAR_07070549L → P in SCN1. 1 Publication1
Natural variantiVAR_07070653H → L in SCN1. 1 Publication1
Natural variantiVAR_07070753H → Q in CH. 1
Natural variantiVAR_07070853H → Y in SCN1. 1 PublicationCorresponds to variant dbSNP:rs1131691882Ensembl.1
Natural variantiVAR_07070955C → S in SCN1. 1 Publication1
Natural variantiVAR_03860955C → Y in SCN1. 1 Publication1
Natural variantiVAR_07071056G → R in SCN1. 1 Publication1
Natural variantiVAR_07071157A → S in SCN1. 2 Publications1
Natural variantiVAR_03861057A → T in SCN1. 2 Publications1
Natural variantiVAR_07071257A → V in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs1057520110Ensembl.1
Natural variantiVAR_07071359L → P in SCN1. 2 Publications1
Natural variantiVAR_07071460 – 61IA → R1 Publication2
Natural variantiVAR_03861160I → T in SCN1. 2 Publications1
Natural variantiVAR_07071561A → V in SCN1 and CH. 2 PublicationsCorresponds to variant dbSNP:rs137854447EnsemblClinVar.1
Natural variantiVAR_07071665Missing in SCN1. 1 Publication1
Natural variantiVAR_07071766 – 70Missing in SCN1. 1 Publication5
Natural variantiVAR_07071867S → W in SCN1. 1 Publication1
Natural variantiVAR_07071971C → F in SCN1. 1 PublicationCorresponds to variant dbSNP:rs878855315EnsemblClinVar.1
Natural variantiVAR_03861271C → R in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs28931611EnsemblClinVar.1
Natural variantiVAR_03861371C → S in SCN1. 1 Publication1
Natural variantiVAR_07072071C → Y in SCN1. 1 Publication1
Natural variantiVAR_07072172V → G in SCN1. 1 Publication1
Natural variantiVAR_07072280V → G in SCN1. 1 Publication1
Natural variantiVAR_07072381R → P in SCN1 and CH. 3 Publications1
Natural variantiVAR_07072482V → M in SCN1 and CH. 2 Publications1
Natural variantiVAR_07072584L → P in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs1064793108Ensembl.1
Natural variantiVAR_03861485G → E in SCN1. 2 Publications1
Natural variantiVAR_07072685G → R in SCN1. 1 Publication1
Natural variantiVAR_07072797Q → L in CH. 1 Publication1
Natural variantiVAR_03861598V → L in 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. 2 PublicationsCorresponds to variant dbSNP:rs267606781EnsemblClinVar.1
Natural variantiVAR_07072898V → M in SCN1. 1 Publication1
Natural variantiVAR_038616101V → L in 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. 2 PublicationsCorresponds to variant dbSNP:rs137854449EnsemblClinVar.1
Natural variantiVAR_038617101V → M in SCN1. 3 PublicationsCorresponds to variant dbSNP:rs137854449EnsemblClinVar.1
Natural variantiVAR_070729103R → L in SCN1. 1 Publication1
Natural variantiVAR_070730103R → P in SCN1. 1 Publication1
Natural variantiVAR_070731104I → N in CH. 1 Publication1
Natural variantiVAR_070732118I → V1 PublicationCorresponds to variant dbSNP:rs1382122842Ensembl.1
Natural variantiVAR_070733120I → F in SCN1 and CH. 1 PublicationCorresponds to variant dbSNP:rs1131691520Ensembl.1
Natural variantiVAR_070734120I → N in SCN1. 1 Publication1
Natural variantiVAR_070735120I → S in SCN1. 1 Publication1
Natural variantiVAR_070736121L → P in SCN1. 2 Publications1
Natural variantiVAR_070737123L → H in SCN1. 1 Publication1
Natural variantiVAR_038618123L → PQL in SCN1. 1
Natural variantiVAR_070738124N → I in SCN1. 1 Publication1
Natural variantiVAR_070739125G → R1 PublicationCorresponds to variant dbSNP:rs377698556Ensembl.1
Natural variantiVAR_038619126S → L in SCN1 and CH. 5 PublicationsCorresponds to variant dbSNP:rs137854450EnsemblClinVar.1
Natural variantiVAR_070740127A → D in SCN1. 1 Publication1
Natural variantiVAR_070741127A → P in SCN1. 1 Publication1
Natural variantiVAR_070742131A → T in SCN1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs201729066Ensembl.1
Natural variantiVAR_070743135V → M1 PublicationCorresponds to variant dbSNP:rs774457980Ensembl.1
Natural variantiVAR_070744136A → D in SCN1. 1 Publication1
Natural variantiVAR_038620139P → L in SCN1 and CH. 3 PublicationsCorresponds to variant dbSNP:rs137854448EnsemblClinVar.1
Natural variantiVAR_070745139P → R in SCN1. 1 Publication1
Natural variantiVAR_070746143R → H in CH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200993994EnsemblClinVar.1
Natural variantiVAR_070747151C → F in SCN1. 1 PublicationCorresponds to variant dbSNP:rs57246956EnsemblClinVar.1
Natural variantiVAR_038621151C → S in SCN1. 1 Publication1
Natural variantiVAR_070748151C → W in SCN1. 1 Publication1
Natural variantiVAR_070749151C → Y in SCN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs57246956EnsemblClinVar.1
Natural variantiVAR_070750152L → P in SCN1. 3 Publications1
Natural variantiVAR_070751153A → D in SCN1. 1 Publication1
Natural variantiVAR_070752153A → P in SCN1. 1 Publication1
Natural variantiVAR_070753156W → C in SCN1. 1 Publication1
Natural variantiVAR_070754156W → R in SCN1. 1 Publication1
Natural variantiVAR_064513166A → T in SCN1; the patient also carries mutation Lys-116 in G6PC3. 2 PublicationsCorresponds to variant dbSNP:rs201788817Ensembl.1
Natural variantiVAR_038622190 – 199Missing in SCN1 and CH. 1 Publication10
Natural variantiVAR_070755203G → C in SCN1 and CH. 2 Publications1
Natural variantiVAR_070756203G → R in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs201139487Ensembl.1
Natural variantiVAR_038623205P → R in SCN1. 2 Publications1
Natural variantiVAR_070757206L → F in CH. 1 PublicationCorresponds to variant dbSNP:rs137854446EnsemblClinVar.1
Natural variantiVAR_070758206L → S in SCN1. 1 Publication1
Natural variantiVAR_070759208C → G in SCN1. 1 Publication1
Natural variantiVAR_070760209N → I in CH. 1 Publication1
Natural variantiVAR_038624210G → V in SCN1. 1 Publication1
Natural variantiVAR_070761210G → W in CH. 1 Publication1
Natural variantiVAR_070762214G → E in SCN1. 1 Publication1
Natural variantiVAR_038625214G → R in SCN1. 2 PublicationsCorresponds to variant dbSNP:rs137854451EnsemblClinVar.1
Natural variantiVAR_019237219V → I in CH and SCN1; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs17216656EnsemblClinVar.1
Natural variantiVAR_070763220R → Q in CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage. 4 PublicationsCorresponds to variant dbSNP:rs137854445EnsemblClinVar.1
Natural variantiVAR_070764233A → P in SCN1. 1 Publication1
Natural variantiVAR_070765235V → E in SCN1. 2 Publications1
Natural variantiVAR_070766235V → G in SCN1. 2 Publications1
Natural variantiVAR_019238257P → L2 PublicationsCorresponds to variant dbSNP:rs17216663EnsemblClinVar.1
Natural variantiVAR_019239262P → L Found in patients with severe congenital or cyclic neutropenia. 2 PublicationsCorresponds to variant dbSNP:rs17216670EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y00477 Genomic DNA Translation: CAA68537.1
M20203
, M20199, M20200, M20201 Genomic DNA Translation: AAA36359.1
M34379 mRNA Translation: AAA36173.1
AY596461 Genomic DNA Translation: AAS89303.1
BC074816 mRNA Translation: AAH74816.1
BC074817 mRNA Translation: AAH74817.1
D00187 mRNA Translation: BAA00128.1
X05875 mRNA Translation: CAA29299.1
X05875 mRNA Translation: CAA29300.1 Different initiation.
J03545 mRNA Translation: AAA52378.1
M27783 mRNA Translation: AAA35792.1
CCDSiCCDS12045.1
PIRiA31976 ELHUL
RefSeqiNP_001963.1, NM_001972.3
XP_011526077.1, XM_011527775.1
XP_011526078.1, XM_011527776.1
UniGeneiHs.99863

Genome annotation databases

EnsembliENST00000263621; ENSP00000263621; ENSG00000197561
ENST00000590230; ENSP00000466090; ENSG00000197561
ENST00000615489; ENSP00000480128; ENSG00000277571
ENST00000632488; ENSP00000488075; ENSG00000277571
GeneIDi1991
KEGGihsa:1991
UCSCiuc002lqb.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

CCHMC molecular genetics laboratory mutation database

ELA2 elastase, neutrophil expressed (ELANE)

ELA2base

ELA2 mutation db

NIEHS-SNPs
Wikipedia

Elastase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y00477 Genomic DNA Translation: CAA68537.1
M20203
, M20199, M20200, M20201 Genomic DNA Translation: AAA36359.1
M34379 mRNA Translation: AAA36173.1
AY596461 Genomic DNA Translation: AAS89303.1
BC074816 mRNA Translation: AAH74816.1
BC074817 mRNA Translation: AAH74817.1
D00187 mRNA Translation: BAA00128.1
X05875 mRNA Translation: CAA29299.1
X05875 mRNA Translation: CAA29300.1 Different initiation.
J03545 mRNA Translation: AAA52378.1
M27783 mRNA Translation: AAA35792.1
CCDSiCCDS12045.1
PIRiA31976 ELHUL
RefSeqiNP_001963.1, NM_001972.3
XP_011526077.1, XM_011527775.1
XP_011526078.1, XM_011527776.1
UniGeneiHs.99863

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1B0FX-ray3.00A30-247[»]
1H1BX-ray2.00A/B30-247[»]
1HNEX-ray1.84E30-247[»]
1PPFX-ray1.80E30-247[»]
1PPGX-ray2.30E30-247[»]
2RG3X-ray1.80A30-247[»]
2Z7FX-ray1.70E30-247[»]
3Q76X-ray1.86A/B30-247[»]
3Q77X-ray2.00A30-247[»]
4NZLX-ray1.85A30-247[»]
4WVPX-ray1.63E30-247[»]
5A09X-ray1.81A30-247[»]
5A0AX-ray1.78E30-247[»]
5A0BX-ray2.23A30-247[»]
5A0CX-ray2.10A/B30-247[»]
5A8XX-ray2.23A30-247[»]
5A8YX-ray1.90A30-247[»]
5A8ZX-ray2.00A30-247[»]
5ABWX-ray1.60A30-247[»]
6F5MX-ray2.70A/B30-247[»]
ProteinModelPortaliP08246
SMRiP08246
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108306, 12 interactors
CORUMiP08246
IntActiP08246, 5 interactors
MINTiP08246
STRINGi9606.ENSP00000263621

Chemistry databases

BindingDBiP08246
ChEMBLiCHEMBL248
DrugBankiDB00058 Alpha-1-proteinase inhibitor
DB05161 Elafin
DB00099 Filgrastim
DB03925 ONO-6818
DB00019 Pegfilgrastim
GuidetoPHARMACOLOGYi2358

Protein family/group databases

MEROPSiS01.131

PTM databases

GlyConnecti1564
iPTMnetiP08246
PhosphoSitePlusiP08246

Polymorphism and mutation databases

BioMutaiELANE
DMDMi119292

Proteomic databases

PaxDbiP08246
PeptideAtlasiP08246
PRIDEiP08246
ProteomicsDBi52099

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263621; ENSP00000263621; ENSG00000197561
ENST00000590230; ENSP00000466090; ENSG00000197561
ENST00000615489; ENSP00000480128; ENSG00000277571
ENST00000632488; ENSP00000488075; ENSG00000277571
GeneIDi1991
KEGGihsa:1991
UCSCiuc002lqb.4 human

Organism-specific databases

CTDi1991
DisGeNETi1991
EuPathDBiHostDB:ENSG00000197561.6
GeneCardsiELANE
GeneReviewsiELANE
HGNCiHGNC:3309 ELANE
HPAiCAB015409
HPA066836
MalaCardsiELANE
MIMi130130 gene
162800 phenotype
202700 phenotype
neXtProtiNX_P08246
OpenTargetsiENSG00000197561
Orphaneti486 Autosomal dominant severe congenital neutropenia
2686 Cyclic neutropenia
PharmGKBiPA27735
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3627 Eukaryota
COG5640 LUCA
GeneTreeiENSGT00910000144219
HOGENOMiHOG000251820
HOVERGENiHBG013304
InParanoidiP08246
KOiK01327
OMAiWGRLGTN
OrthoDBiEOG091G0DF7
PhylomeDBiP08246

Enzyme and pathway databases

BRENDAi3.4.21.37 2681
ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1592389 Activation of Matrix Metalloproteinases
R-HSA-6798695 Neutrophil degranulation
R-HSA-6803157 Antimicrobial peptides
R-HSA-977606 Regulation of Complement cascade
SABIO-RKiP08246
SIGNORiP08246

Miscellaneous databases

ChiTaRSiELANE human
EvolutionaryTraceiP08246
GeneWikiiNeutrophil_elastase
GenomeRNAii1991
PROiPR:P08246
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197561 Expressed in 87 organ(s), highest expression level in bone marrow cell
CleanExiHS_ELA2
GenevisibleiP08246 HS

Family and domain databases

CDDicd00190 Tryp_SPc, 1 hit
InterProiView protein in InterPro
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER
PfamiView protein in Pfam
PF00089 Trypsin, 1 hit
PRINTSiPR00722 CHYMOTRYPSIN
SMARTiView protein in SMART
SM00020 Tryp_SPc, 1 hit
SUPFAMiSSF50494 SSF50494, 1 hit
PROSITEiView protein in PROSITE
PS50240 TRYPSIN_DOM, 1 hit
PS00134 TRYPSIN_HIS, 1 hit
PS00135 TRYPSIN_SER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiELNE_HUMAN
AccessioniPrimary (citable) accession number: P08246
Secondary accession number(s): P09649, Q6B0D9, Q6LDP5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1988
Last modified: November 7, 2018
This is version 202 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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