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

Gene ID: 1991, updated on 19-Jun-2024

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
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Genomic context

See ELANE in Genome Data Viewer
Location:
19p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (852303..856243)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (806810..812352)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (852303..856243)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene azurocidin 1 Neighboring gene proteinase 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:850825-851537 Neighboring gene complement factor D Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:871223-871802 Neighboring gene mediator complex subunit 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:885344-885844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:885845-886345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9626

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 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

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
XP_054176121.1
XP_054176122.1
XP_054185414.1
XP_054185415.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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

  1. NG_009627.1 RefSeqGene

    Range
    5001..8956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_57

mRNA and Protein(s)

  1. NM_001972.4NP_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:30245
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    852303..856243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187622.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    29537..35129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329440.1XP_054185415.1  neutrophil elastase isoform X1

    UniProtKB/Swiss-Prot
    P08246, P09649, Q6B0D9, Q6LDP5
  2. XM_054329439.1XP_054185414.1  neutrophil elastase isoform X1

    UniProtKB/Swiss-Prot
    P08246, P09649, Q6B0D9, Q6LDP5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    806810..812352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320147.1XP_054176122.1  neutrophil elastase isoform X1

    UniProtKB/Swiss-Prot
    P08246, P09649, Q6B0D9, Q6LDP5
  2. XM_054320146.1XP_054176121.1  neutrophil elastase isoform X1

    UniProtKB/Swiss-Prot
    P08246, P09649, Q6B0D9, Q6LDP5