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Protein

Neutrophil elastase

Gene

ELANE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa. EC:3.4.21.37

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei70Charge relay system1
Active sitei117Charge relay system1
Active sitei202Charge relay system1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease, Serine protease

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.4.21.37 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-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-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P08246

SIGNOR Signaling Network Open Resource

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SIGNORi
P08246

Protein family/group databases

MEROPS protease database

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MEROPSi
S01.131

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ELANE
Synonyms:ELA2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000197561.6

Human Gene Nomenclature Database

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HGNCi
HGNC:3309 ELANE

Online Mendelian Inheritance in Man (OMIM)

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MIMi
130130 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P08246

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07069743F → L in SCN1 and CH. 2 Publications1
Natural variantiVAR_07070045V → L in CH. 1 Publication1
Natural variantiVAR_07070246S → F in CH and SCN1. 2 PublicationsCorresponds to variant dbSNP:rs878855320EnsemblClinVar.1
Natural variantiVAR_07070753H → Q in CH. 1
Natural variantiVAR_07071561A → V in SCN1 and CH. 2 PublicationsCorresponds to variant dbSNP:rs137854447EnsemblClinVar.1
Natural variantiVAR_07072381R → P in SCN1 and CH. 3 Publications1
Natural variantiVAR_07072482V → M in SCN1 and CH. 2 Publications1
Natural variantiVAR_07072797Q → L in CH. 1 Publication1
Natural variantiVAR_070731104I → N in CH. 1 Publication1
Natural variantiVAR_070733120I → F in SCN1 and CH. 1 PublicationCorresponds to variant dbSNP:rs1131691520Ensembl.1
Natural variantiVAR_038619126S → L in SCN1 and CH. 5 PublicationsCorresponds to variant dbSNP:rs137854450EnsemblClinVar.1
Natural variantiVAR_038620139P → L in SCN1 and CH. 3 PublicationsCorresponds to variant dbSNP:rs137854448EnsemblClinVar.1
Natural variantiVAR_070746143R → H in CH; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200993994EnsemblClinVar.1
Natural variantiVAR_038622190 – 199Missing in SCN1 and CH. 1 Publication10
Natural variantiVAR_070755203G → C in SCN1 and CH. 2 Publications1
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
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
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_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_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_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_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_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 PublicationCorresponds to variant dbSNP:rs267606781EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs745455816EnsemblClinVar.1
Natural variantiVAR_070730103R → P in SCN1. 1 Publication1
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_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_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_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_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_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

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1991

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ELANE

MalaCards human disease database

More...
MalaCardsi
ELANE
MIMi162800 phenotype
202700 phenotype

Open Targets

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OpenTargetsi
ENSG00000197561

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
486 Autosomal dominant severe congenital neutropenia
2686 Cyclic neutropenia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27735

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL248

Drug and drug target database

More...
DrugBanki
DB00058 Alpha-1-proteinase inhibitor
DB05161 Elafin
DB00099 Filgrastim
DB03925 ONO-6818
DB00019 Pegfilgrastim

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
2358

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ELANE

Domain mapping of disease mutations (DMDM)

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DMDMi
119292

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 27Sequence analysisAdd BLAST27
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000002770328 – 293 Publications2
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002770430 – 267Neutrophil elastaseAdd BLAST238

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi55 ↔ 71PROSITE-ProRule annotation1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P08246

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P08246

PeptideAtlas

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PeptideAtlasi
P08246

PRoteomics IDEntifications database

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PRIDEi
P08246

ProteomicsDB human proteome resource

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ProteomicsDBi
52099

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1564

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P08246

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P08246

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Bone marrow cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197561 Expressed in 87 organ(s), highest expression level in bone marrow cell

CleanEx database of gene expression profiles

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CleanExi
HS_ELA2

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P08246 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB015409
HPA066836

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NOTCH2NL.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108306, 12 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P08246

Protein interaction database and analysis system

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IntActi
P08246, 5 interactors

Molecular INTeraction database

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MINTi
P08246

STRING: functional protein association networks

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STRINGi
9606.ENSP00000263621

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P08246

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P08246

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P08246

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P08246

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini30 – 247Peptidase S1PROSITE-ProRule annotationAdd BLAST218

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3627 Eukaryota
COG5640 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00910000144219

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000251820

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG013304

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P08246

KEGG Orthology (KO)

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KOi
K01327

Identification of Orthologs from Complete Genome Data

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OMAi
WGRLGTN

Database of Orthologous Groups

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OrthoDBi
1314811at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P08246

Family and domain databases

Conserved Domains Database

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CDDi
cd00190 Tryp_SPc, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER

Pfam protein domain database

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Pfami
View protein in Pfam
PF00089 Trypsin, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00722 CHYMOTRYPSIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00020 Tryp_SPc, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50494 SSF50494, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50240 TRYPSIN_DOM, 1 hit
PS00134 TRYPSIN_HIS, 1 hit
PS00135 TRYPSIN_SER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3F7610DC33CAA4B9
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs267606781EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs745455816EnsemblClinVar.1
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 Publication