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Aliases for ELANE Gene

Aliases for ELANE Gene

  • Elastase, Neutrophil Expressed 2 3
  • Medullasin 2 3 4
  • ELA2 3 4 6
  • Bone Marrow Serine Protease 3 4
  • Human Leukocyte Elastase 3 4
  • Elastase 2, Neutrophil 2 3
  • Neutrophil Elastase 2 3
  • Leukocyte Elastase 2 3
  • PMN Elastase 3 4
  • Elastase-2 3 4
  • SCN1 3 6
  • HLE 3 4
  • Granulocyte-Derived Elastase 3
  • Polymorphonuclear Elastase 3
  • EC 3.4.21.37 4
  • EC 3.4.21 63
  • PMN-E 3
  • HNE 3
  • GE 3
  • NE 3

External Ids for ELANE Gene

Previous Symbols for ELANE Gene

  • ELA2

Summaries for ELANE Gene

Entrez Gene Summary for ELANE Gene

  • Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins. The product of this gene hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix following the protein's release from activated neutrophils. The enzyme may play a role in degenerative and inflammatory diseases by its proteolysis of collagen-IV and elastin of the extracellular matrix. This protein 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 clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, May 2009]

GeneCards Summary for ELANE Gene

ELANE (Elastase, Neutrophil Expressed) is a Protein Coding gene. Diseases associated with ELANE include neutropenia, cyclic and neutropenia, severe congenital 1, autosomal dominant. Among its related pathways are amb2 Integrin signaling and Degradation of the extracellular matrix. GO annotations related to this gene include serine-type endopeptidase activity and peptidase activity. An important paralog of this gene is PRTN3.

UniProtKB/Swiss-Prot for ELANE Gene

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

Tocris Summary for ELANE Gene

  • Elastases are a group of serine proteases that specifically degrade elastin. Elastin, together with collagen, is a key protein that contributes to the mechanical properties of connective tissue. Leukocyte elastase is a cytoplasmic enzyme that modifies the function of natural killer cells, monocytes and granulocytes. It specifically cleaves Val-X, Ala-X, Leu-X or Met-X peptide bonds. Elastases have a physiological role in processes such as neutrophil migration, phagocytosis and tissue remodeling, and are known to contribute to the pathology of pulmonary emphysema, cystic fibrosis, infections, inflammation and atherosclerosis.

Gene Wiki entry for ELANE Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELANE Gene

Genomics for ELANE Gene

Genomic Location for ELANE Gene

Start:
850,989 bp from pter
End:
856,247 bp from pter
Size:
5,259 bases
Orientation:
Plus strand

Genomic View for ELANE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ELANE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELANE Gene

Regulatory Elements for ELANE Gene

Transcription factor binding sites by QIAGEN in the ELANE gene promoter:

Proteins for ELANE Gene

  • Protein details for ELANE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08246-ELNE_HUMAN
    Recommended name:
    Neutrophil elastase
    Protein Accession:
    P08246
    Secondary Accessions:
    • P09649
    • Q6B0D9
    • Q6LDP5

    Protein attributes for ELANE Gene

    Size:
    267 amino acids
    Molecular mass:
    28518 Da
    Quaternary structure:
    • Interacts with NOTCH2NL.
    SequenceCaution:
    • Sequence=CAA29300.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ELANE Gene

neXtProt entry for ELANE Gene

Proteomics data for ELANE Gene at MOPED

Selected DME Specific Peptides for ELANE Gene

Post-translational modifications for ELANE Gene

  • Glycosylation at Asn88, Asn124, and Asn173

Other Protein References for ELANE Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ELANE Gene

Suggested Antigen Peptide Sequences for ELANE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08246

UniProtKB/Swiss-Prot:

ELNE_HUMAN
Domain:
  • Contains 1 peptidase S1 domain.:
    • P08246
Family:
  • Belongs to the peptidase S1 family. Elastase subfamily.:
    • P08246
genes like me logo Genes that share domains with ELANE: view

No data available for Gene Families for ELANE Gene

Function for ELANE Gene

Molecular function for ELANE Gene

UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of proteins, including elastin. Preferential cleavage: Val- -Xaa > Ala- -Xaa
UniProtKB/Swiss-Prot Function: Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.

Enzyme Numbers (IUBMB) for ELANE Gene

Gene Ontology (GO) - Molecular Function for ELANE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001106 RNA polymerase II transcription corepressor activity IMP 19506020
GO:0002020 protease binding IPI 6980881
GO:0003824 catalytic activity --
GO:0004175 endopeptidase activity IDA 12887060
GO:0004252 serine-type endopeptidase activity IEA --
genes like me logo Genes that share ontologies with ELANE: view
genes like me logo Genes that share phenotypes with ELANE: view

Animal Models for ELANE Gene

MGI Knock Outs for ELANE:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ELANE Gene

Localization for ELANE Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELANE Gene COMPARTMENTS Subcellular localization image for ELANE gene
Compartment Confidence
extracellular 5
lysosome 3
cytoskeleton 2
cytosol 2
mitochondrion 2
nucleus 2
plasma membrane 2
vacuole 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ELANE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IDA 19506020
GO:0009986 cell surface IDA 12114510
GO:0017053 transcriptional repressor complex IDA 19506020
GO:0030141 secretory granule IDA 11907569
genes like me logo Genes that share ontologies with ELANE: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ELANE Gene

Pathways for ELANE Gene

genes like me logo Genes that share pathways with ELANE: view

Gene Ontology (GO) - Biological Process for ELANE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 19506020
GO:0001878 response to yeast IEA --
GO:0002438 acute inflammatory response to antigenic stimulus IEA --
GO:0006508 proteolysis IDA 11907569
GO:0006874 cellular calcium ion homeostasis NAS 15140022
genes like me logo Genes that share ontologies with ELANE: view

Compounds for ELANE Gene

(2) Tocris Compounds for ELANE Gene

Compound Action Cas Number
Sivelestat sodium salt Selective leukocyte elastase inhibitor [150374-95-1]
SSR 69071 Potent, orally active human leukocyte elastase inhibitor [344930-95-6]

(5) Drugbank Compounds for ELANE Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-1-proteinase inhibitor
  • Alpha 1-antitrypsin
9041-92-3 target inhibitor
Filgrastim
  • G-CSF
121181-53-1 target other/unknown
Mdl 101,146
149859-17-6 target
ONO-6818
208848-19-5 target inhibitor
Pegfilgrastim
  • G-CSF
208265-92-3 target

(133) Novoseek inferred chemical compound relationships for ELANE Gene

Compound -log(P) Hits PubMed IDs
sivelestat 89 56
serine 85.3 128
sivelestat sodium hydrate 82.6 22
fmlp 80.7 143
elastatinal 79.9 11
genes like me logo Genes that share compounds with ELANE: view

Transcripts for ELANE Gene

mRNA/cDNA for ELANE Gene

Unigene Clusters for ELANE Gene

Elastase, neutrophil expressed:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ELANE Gene

No ASD Table

Relevant External Links for ELANE Gene

GeneLoc Exon Structure for
ELANE
ECgene alternative splicing isoforms for
ELANE

Expression for ELANE Gene

mRNA expression in normal human tissues for ELANE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELANE Gene

This gene is overexpressed in Whole Blood (40.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ELANE Gene

SOURCE GeneReport for Unigene cluster for ELANE Gene Hs.99863

mRNA Expression by UniProt/SwissProt for ELANE Gene

P08246-ELNE_HUMAN
Tissue specificity: Bone marrow cells
genes like me logo Genes that share expressions with ELANE: view

Orthologs for ELANE Gene

This gene was present in the common ancestor of mammals.

Orthologs for ELANE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELANE 35
  • 94.81 (n)
  • 92.62 (a)
ELANE 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELA2 36
  • 63 (a)
OneToOne
ELANE 35
  • 76.89 (n)
  • 70.17 (a)
dog
(Canis familiaris)
Mammalia ELA2 36
  • 68 (a)
OneToOne
ELANE 35
  • 79.58 (n)
  • 78.38 (a)
mouse
(Mus musculus)
Mammalia Elane 35
  • 72.56 (n)
  • 73.08 (a)
Elane 16
Elane 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELANE 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELANE 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Elane 35
  • 73.18 (n)
  • 72.66 (a)
Species with no ortholog for ELANE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ELANE Gene

ENSEMBL:
Gene Tree for ELANE (if available)
TreeFam:
Gene Tree for ELANE (if available)

Paralogs for ELANE Gene

Paralogs for ELANE Gene

genes like me logo Genes that share paralogs with ELANE: view

Variants for ELANE Gene

Sequence variations from dbSNP and Humsavar for ELANE Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs191587 -- 853,208(-) GCTCA(G/T)CCGCG intron-variant
rs351105 -- 853,234(-) GCTCA(G/T)GGGCG intron-variant
rs351106 -- 852,205(+) CTGTG(C/T)CAGGG upstream-variant-2KB, intron-variant
rs351107 -- 851,401(+) CGGTA(G/T)CACAG upstream-variant-2KB, intron-variant
rs351108 -- 849,959(+) aaagt(A/G)ttggg upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ELANE Gene

Variant ID Type Subtype PubMed ID
nsv470101 CNV Loss 18288195
dgv3508n71 CNV Loss 21882294
dgv3513n71 CNV Loss 21882294
dgv3516n71 CNV Loss 21882294
nsv910260 CNV Loss 21882294
dgv3549n71 CNV Loss 21882294
dgv3550n71 CNV Loss 21882294
dgv3551n71 CNV Loss 21882294
dgv3552n71 CNV Loss 21882294
nsv910292 CNV Loss 21882294
nsv910310 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
dgv3558n71 CNV Loss 21882294
nsv910320 CNV Loss 21882294
dgv3559n71 CNV Loss 21882294
dgv3560n71 CNV Loss 21882294
dgv3561n71 CNV Loss 21882294
esv2717799 CNV Deletion 23290073
nsv910329 CNV Loss 21882294
dgv3562n71 CNV Loss 21882294
nsv910332 CNV Loss 21882294

Relevant External Links for ELANE Gene

HapMap Linkage Disequilibrium report
ELANE
Human Gene Mutation Database (HGMD)
ELANE
Locus Specific Mutation Databases (LSDB)
ELANE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELANE Gene

Disorders for ELANE Gene

(2) OMIM Diseases for ELANE Gene (130130)

UniProtKB/Swiss-Prot

ELNE_HUMAN
  • Cyclic haematopoiesis (CH) [MIM:162800]: 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. {ECO:0000269 PubMed:10581030, ECO:0000269 PubMed:11001877, ECO:0000269 PubMed:14962902, ECO:0000269 PubMed:23463630}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]: 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. {ECO:0000269 PubMed:11001877, ECO:0000269 PubMed:11675333, ECO:0000269 PubMed:12091371, ECO:0000269 PubMed:14962902, ECO:0000269 PubMed:17436313, ECO:0000269 PubMed:18946670, ECO:0000269 PubMed:19036076, ECO:0000269 PubMed:19415009, ECO:0000269 PubMed:19927291, ECO:0000269 PubMed:20220065, ECO:0000269 PubMed:20803142, ECO:0000269 PubMed:21425445, ECO:0000269 PubMed:23463630}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(97) Novoseek inferred disease relationships for ELANE Gene

Disease -log(P) Hits PubMed IDs
neutropenia, severe congenital 86.7 46
pulmonary emphysema 78.6 37
neutropenia cyclic 76.4 30
cystic fibrosis 74.9 122
inflammation 74.5 124

Relevant External Links for ELANE

GeneTests
ELANE
GeneReviews
ELANE
Human Genome Epidemiology (HuGE) Navigator
ELANE
genes like me logo Genes that share disorders with ELANE: view

Publications for ELANE Gene

  1. Functional expression of human leukocyte elastase (HLE)/medullasin in eukaryotic cells. (PMID: 2322278) Okano K. … Naruto M. (Biochem. Biophys. Res. Commun. 1990) 3 4 23
  2. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. (PMID: 10581030) Horwitz M. … Dale D.C. (Nat. Genet. 1999) 3 4 23
  3. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. (PMID: 11001877) Dale D.C. … Horwitz M. (Blood 2000) 3 4 23
  4. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. (PMID: 11675333) Ancliff P.J. … Linch D.C. (Blood 2001) 3 4 23
  5. A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. (PMID: 14673143) Duan Z. … Horwitz M. (Mol. Cell. Biol. 2004) 3 4 23

Products for ELANE Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • HIV Host Response in human,mouse,rat
    • Tumor Metastasis in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ELANE
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for ELANE
    • Block miRNA regulation of ELANE using miScript Target Protectors

    Sources for ELANE Gene

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