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    Elane elastase, neutrophil expressed [ Mus musculus (house mouse) ]

    Gene ID: 50701, updated on 25-Apr-2024

    Summary

    Official Symbol
    Elaneprovided by MGI
    Official Full Name
    elastase, neutrophil expressedprovided by MGI
    Primary source
    MGI:MGI:2679229
    See related
    Ensembl:ENSMUSG00000020125 AllianceGenome:MGI:2679229
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    NE; Ela2; F430011M15Rik
    Summary
    This gene encodes a member of the chymotrypsin-like family of serine protease enzymes that hydrolyzes a broad range of protein substrates including elastin. This gene is expressed by neutrophils where the encoded enzyme is stored in azurophil granules. Upon neutrophil activation, the active enzyme is released into the extracellular mileu. Mice lacking the encoded protein exhibit increased susceptibility to sepsis and death following intraperitoneal infection with Gram negative bacteria. This gene is located adjacent to a related proteinase gene on chromosome 10. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in liver E18 (RPKM 61.1), liver E14.5 (RPKM 36.1) and 2 other tissues See more
    Orthologs
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    Genomic context

    Location:
    10 C1; 10 39.72 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (79722146..79724050)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (79886312..79888216)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene polypyrimidine tract binding protein 1 Neighboring gene phospholipid phosphatase related 3 Neighboring gene microRNA 6910 Neighboring gene proteinase 3 Neighboring gene 40S ribosomal protein S21 pseudogene Neighboring gene complement factor D

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3)  1 citation
    • Endonuclease-mediated (4) 
    • Chemically induced (ENU) (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cytokine binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables heparin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protease binding ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    enables serine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription corepressor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in acute inflammatory response to antigenic stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within acute inflammatory response to antigenic stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in biosynthetic process of antibacterial peptides active against Gram-negative bacteria ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in defense response to bacterium ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within defense response to fungus IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within defense response to fungus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within leukocyte migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in leukocyte migration involved in inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of chemokine production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of interleukin-8 production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neutrophil-mediated killing of fungus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neutrophil-mediated killing of gram-negative bacterium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phagocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of immune response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-8 production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of leukocyte tethering or rolling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of smooth muscle cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to UV ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to lipopolysaccharide IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within response to lipopolysaccharide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to yeast IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in secretory granule ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription repressor complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    neutrophil elastase
    Names
    elastase 2, neutrophil
    leukocyte elastase
    NP_056594.2

    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.

    mRNA and Protein(s)

    1. NM_015779.2NP_056594.2  neutrophil elastase precursor

      See identical proteins and their annotated locations for NP_056594.2

      Status: REVIEWED

      Source sequence(s)
      AK143710, DY245521
      Consensus CDS
      CCDS23994.1
      UniProtKB/Swiss-Prot
      A6H698, Q3UP87, Q61515
      Related
      ENSMUSP00000038925.5, ENSMUST00000046091.7
      Conserved Domains (2) summary
      smart00020
      Location:28242
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:29245
      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_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      79722146..79724050
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)