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ELANE
HPA
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  • ELANE
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

ELANE
Synonyms ELA2, HLE, HNE, NE, PMN-E
Gene descriptioni

Full gene name according to HGNC.

Elastase, neutrophil expressed
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Secreted
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 19
Cytoband p13.3
Chromosome location (bp) 851014 - 856247
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

2
Ensembl ENSG00000197561 (version 109)
Entrez gene 1991
HGNC HGNC:3309
UniProt P08246 (UniProt - Evidence at protein level)
neXtProt NX_P08246
GeneCards ELANE
Antibodypedia ELANE antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Serine protease that modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis 1. Promotes cleavage of GSDMB, thereby inhibiting pyroptosis 2. Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae 3.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Hydrolase, Protease, Serine protease
Gene summary (Entrez)i

Useful information about the gene from Entrez

Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
ELANE-201
ENSP00000263621
ENST00000263621
P08246
[Direct mapping] Neutrophil elastase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   Peptidases
   Serine-type peptidases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepTMHMM predicted secreted proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0001878 [response to yeast]
GO:0002020 [protease binding]
GO:0002438 [acute inflammatory response to antigenic stimulus]
GO:0002523 [leukocyte migration involved in inflammatory response]
GO:0002812 [biosynthetic process of antibacterial peptides active against Gram-negative bacteria]
GO:0003714 [transcription corepressor activity]
GO:0004175 [endopeptidase activity]
GO:0004252 [serine-type endopeptidase activity]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006508 [proteolysis]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006909 [phagocytosis]
GO:0008201 [heparin binding]
GO:0008233 [peptidase activity]
GO:0008236 [serine-type peptidase activity]
GO:0009411 [response to UV]
GO:0009986 [cell surface]
GO:0016787 [hydrolase activity]
GO:0017053 [transcription repressor complex]
GO:0019955 [cytokine binding]
GO:0022617 [extracellular matrix disassembly]
GO:0030141 [secretory granule]
GO:0030163 [protein catabolic process]
GO:0031410 [cytoplasmic vesicle]
GO:0032496 [response to lipopolysaccharide]
GO:0032682 [negative regulation of chemokine production]
GO:0032717 [negative regulation of interleukin-8 production]
GO:0032757 [positive regulation of interleukin-8 production]
GO:0035578 [azurophil granule lumen]
GO:0035580 [specific granule lumen]
GO:0042742 [defense response to bacterium]
GO:0043406 [positive regulation of MAP kinase activity]
GO:0045335 [phagocytic vesicle]
GO:0048661 [positive regulation of smooth muscle cell proliferation]
GO:0050728 [negative regulation of inflammatory response]
GO:0050778 [positive regulation of immune response]
GO:0050832 [defense response to fungus]
GO:0050900 [leukocyte migration]
GO:0050922 [negative regulation of chemotaxis]
GO:0062023 [collagen-containing extracellular matrix]
GO:0070062 [extracellular exosome]
GO:0070269 [pyroptosis]
GO:0070945 [neutrophil-mediated killing of gram-negative bacterium]
GO:0070947 [neutrophil-mediated killing of fungus]
GO:1903238 [positive regulation of leukocyte tethering or rolling]
Show all
267 aa
28.5 kDa
Yes 0
ELANE-202
ENSP00000466090
ENST00000590230
P08246
[Direct mapping] Neutrophil elastase
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   Peptidases
   Serine-type peptidases
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
   DeepTMHMM predicted secreted proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
FDA approved drug targets
   Biotech drugs
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0002020 [protease binding]
GO:0002438 [acute inflammatory response to antigenic stimulus]
GO:0002812 [biosynthetic process of antibacterial peptides active against Gram-negative bacteria]
GO:0003714 [transcription corepressor activity]
GO:0004175 [endopeptidase activity]
GO:0004252 [serine-type endopeptidase activity]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005615 [extracellular space]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006508 [proteolysis]
GO:0006874 [cellular calcium ion homeostasis]
GO:0006909 [phagocytosis]
GO:0008201 [heparin binding]
GO:0008233 [peptidase activity]
GO:0008236 [serine-type peptidase activity]
GO:0009411 [response to UV]
GO:0009986 [cell surface]
GO:0016787 [hydrolase activity]
GO:0017053 [transcription repressor complex]
GO:0019955 [cytokine binding]
GO:0022617 [extracellular matrix disassembly]
GO:0030141 [secretory granule]
GO:0030163 [protein catabolic process]
GO:0031410 [cytoplasmic vesicle]
GO:0032682 [negative regulation of chemokine production]
GO:0032717 [negative regulation of interleukin-8 production]
GO:0032757 [positive regulation of interleukin-8 production]
GO:0035578 [azurophil granule lumen]
GO:0035580 [specific granule lumen]
GO:0042742 [defense response to bacterium]
GO:0043406 [positive regulation of MAP kinase activity]
GO:0045335 [phagocytic vesicle]
GO:0048661 [positive regulation of smooth muscle cell proliferation]
GO:0050728 [negative regulation of inflammatory response]
GO:0050922 [negative regulation of chemotaxis]
GO:0062023 [collagen-containing extracellular matrix]
GO:0070062 [extracellular exosome]
GO:0070269 [pyroptosis]
GO:0070945 [neutrophil-mediated killing of gram-negative bacterium]
Show all
267 aa
28.5 kDa
Yes 0

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