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

    Gene ID: 1991, updated on 7-Apr-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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 pyroptosis 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