ELANE elastase, neutrophil expressed [Homo sapiens (human)] - Gene

Summary

Official Symbol: ELANEprovided by HGNC
Official Full Name: elastase, neutrophil expressedprovided by HGNC
Primary source: HGNC:HGNC:3309
See related: Ensembl:ENSG00000197561 MIM:130130; AllianceGenome:HGNC:3309
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GE; NE; HLE; HNE; ELA2; SCN1; PMN-E
Summary: 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]
Expression: Restricted expression toward bone marrow (RPKM 675.1) See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (852303..856243)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (806810..812352)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (852303..856243)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human Neutrophil Elastase: Characterization of Intra- vs. Extracellular Inhibition.
Title: Human Neutrophil Elastase: Characterization of Intra- vs. Extracellular Inhibition.
ELANE rs17223045C/T and rs3761007G/A variants: Protective factors against COVID-19.
Title: ELANE rs17223045C/T and rs3761007G/A variants: Protective factors against COVID-19.
Neutrophil Elastase Degrades Histone Deacetylases and Sirtuin 1 in Primary Human Monocyte Derived Macrophages.
Title: Neutrophil Elastase Degrades Histone Deacetylases and Sirtuin 1 in Primary Human Monocyte Derived Macrophages.
Neutrophil Elastase Remodels Mammary Tumors to Facilitate Lung Metastasis.
Title: Neutrophil Elastase Remodels Mammary Tumors to Facilitate Lung Metastasis.
Position-specific N- and O-glycosylation of the reactive center loop impacts neutrophil elastase-mediated proteolysis of corticosteroid-binding globulin.
Title: Position-specific N- and O-glycosylation of the reactive center loop impacts neutrophil elastase-mediated proteolysis of corticosteroid-binding globulin.
Elevated first-trimester neutrophil elastase and proteinase 3 increase the risk of gestational diabetes mellitus and adverse fetal outcomes.
Title: Elevated first-trimester neutrophil elastase and proteinase 3 increase the risk of gestational diabetes mellitus and adverse fetal outcomes.
Could the Oxidation of alpha1-Antitrypsin Prevent the Binding of Human Neutrophil Elastase in COVID-19 Patients?
Title: Could the Oxidation of α1-Antitrypsin Prevent the Binding of Human Neutrophil Elastase in COVID-19 Patients?
Paediatric autoimmune diseases with ELANE mutations associated with neutropenia.
Title: Paediatric autoimmune diseases with ELANE mutations associated with neutropenia.
Neutrophil elastase decreases SARS-CoV-2 spike protein binding to human bronchial epithelia by clipping ACE-2 ectodomain from the epithelial surface.
Title: Neutrophil elastase decreases SARS-CoV-2 spike protein binding to human bronchial epithelia by clipping ACE-2 ectodomain from the epithelial surface.
The Direct Anti-Virulence but Not Bactericidal Activity of Human Neutrophil Elastase against Moraxella catarrhalis.
Title: The Direct Anti-Virulence but Not Bactericidal Activity of Human Neutrophil Elastase against Moraxella catarrhalis.

Submit: New GeneRIF Correction See all GeneRIFs (250)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cyclical neutropenia MedGen: C0221023 OMIM: 162800 GeneReviews: ELANE-Related Neutropenia	not available
Neutropenia, severe congenital, 1, autosomal dominant MedGen: C1859966 OMIM: 202700 GeneReviews: ELANE-Related Neutropenia	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2022-07-13) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-07-13) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	Human leukocyte elastase (HLE) interacts with the fusion motif (residues 491-495) of HIV-1 gp41, suggesting a nonenzymatic receptor function for HLE in the context of HIV-1 entry into cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47200 (e-PCR)
- UniSTS:63067

RH77978 (e-PCR)
- UniSTS:63068

NoName (e-PCR)
- UniSTS:486531

NoName (e-PCR)
- UniSTS:482027

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine binding	IPI Inferred from Physical Interaction more info	PubMed
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables heparin binding	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	EXP Inferred from Experiment more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables transcription corepressor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in acute inflammatory response to antigenic stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in biosynthetic process of antibacterial peptides active against Gram-negative bacteria	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in extracellular matrix disassembly	TAS Traceable Author Statement more info
involved_in intracellular calcium ion homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in leukocyte migration involved in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of chemokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of chemotaxis	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of inflammatory response	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neutrophil-mediated killing of fungus	IEA Inferred from Electronic Annotation more info
involved_in neutrophil-mediated killing of gram-negative bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in phagocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAP kinase activity	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of leukocyte tethering or rolling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptotic inflammatory response	TAS Traceable Author Statement more info
involved_in response to UV	IDA Inferred from Direct Assay more info	PubMed
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to yeast	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in phagocytic vesicle	IEA Inferred from Electronic Annotation more info
located_in secretory granule	IDA Inferred from Direct Assay more info	PubMed
located_in specific granule lumen	TAS Traceable Author Statement more info
part_of transcription repressor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neutrophil elastase

Names: PMN elastase; bone marrow serine protease; elastase 2, neutrophil; elastase-2; granulocyte-derived elastase; leukocyte elastase; medullasin; polymorphonuclear elastase; polymorphonuclear leukocyte elastase

NP_001963.1

EC 3.4.21.37

XP_054176121.1

EC 3.4.21.37

XP_054176122.1

EC 3.4.21.37

XP_054185414.1

EC 3.4.21.37

XP_054185415.1

EC 3.4.21.37

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009627.1 RefSeqGene

Range

5001..8956

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_57

mRNA and Protein(s)

NM_001972.4 → NP_001963.1 neutrophil elastase preproprotein

See identical proteins and their annotated locations for NP_001963.1

Status: REVIEWED

Source sequence(s)

BI254663, M34379

Consensus CDS

CCDS12045.1

UniProtKB/Swiss-Prot

P08246, P09649, Q6B0D9, Q6LDP5

Related

ENSP00000263621.1, ENST00000263621.2

Conserved Domains (1) summary

cd00190
Location:30 → 245

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...