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

    Gene ID: 1991, updated on 15-May-2017
    Official Symbol
    ELANEprovided by HGNC
    Official Full Name
    elastase, neutrophil expressedprovided by HGNC
    Primary source
    HGNC:HGNC:3309
    See related
    Ensembl:ENSG00000197561 MIM:130130; Vega:OTTHUMG00000181839
    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]
    Orthologs
    Location:
    19p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (850997..856250)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (850989..856246)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene azurocidin 1 Neighboring gene proteinase 3 Neighboring gene complement factor D Neighboring gene mediator complex subunit 16

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II transcription corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytokine binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    acute inflammatory response to antigenic stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    antimicrobial humoral response TAS
    Traceable Author Statement
    more info
     
    biosynthetic process of antibacterial peptides active against Gram-negative bacteria IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular calcium ion homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    leukocyte migration involved in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of chemokine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of chemotaxis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of growth of symbiont in host IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of inflammatory response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of interleukin-8 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    neutrophil mediated killing of fungus IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil mediated killing of gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of MAP kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of immune response IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of interleukin-8 biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of leukocyte tethering or rolling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to yeast IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    secretory granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    transcriptional repressor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    neutrophil elastase
    Names
    PMN elastase
    bone marrow serine protease
    elastase 2, neutrophil
    elastase-2
    granulocyte-derived elastase
    leukocyte elastase
    medullasin
    polymorphonuclear elastase
    NP_001963.1
    XP_011526077.1
    XP_011526078.1

    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_001972.3NP_001963.1  neutrophil elastase preproprotein

      See identical proteins and their annotated locations for NP_001963.1

      Status: REVIEWED

      Source sequence(s)
      BI254663, CD613590, M34379
      Consensus CDS
      CCDS12045.1
      UniProtKB/Swiss-Prot
      P08246
      Related
      ENSP00000263621.1, ENST00000263621.1
      Conserved Domains (2) summary
      smart00020
      Location:29242
      Tryp_SPc; Trypsin-like serine protease
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      850997..856250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527775.1XP_011526077.1  neutrophil elastase isoform X1

      See identical proteins and their annotated locations for XP_011526077.1

      UniProtKB/Swiss-Prot
      P08246
      Conserved Domains (2) summary
      smart00020
      Location:29242
      Tryp_SPc; Trypsin-like serine protease
      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 ...
    2. XM_011527776.1XP_011526078.1  neutrophil elastase isoform X1

      See identical proteins and their annotated locations for XP_011526078.1

      UniProtKB/Swiss-Prot
      P08246
      Related
      ENSP00000466090.1, OTTHUMP00000267630, ENST00000590230.5, OTTHUMT00000457890
      Conserved Domains (2) summary
      smart00020
      Location:29242
      Tryp_SPc; Trypsin-like serine protease
      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 ...

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187622.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      31096..35132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      851610..855840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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