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FLASH GENE
Symbol DNASE1 contributors: mct - updated : 25-02-2020
HGNC name deoxyribonuclease I
HGNC id 2956
Location 16p13.3      Physical location : 3.702.939 - 3.708.095
Synonym name
  • DNase I, lysosomal
  • Dornase alfa
    • Synonym symbol(s) DNL1, DRNI, FLJ38093, FLJ44902, DKFZp686H0155
    EC.number 3.1.21.1
    DNA
    TYPE functioning gene
    STRUCTURE 53.74 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure expression is regulated through the use of alternative promoter and alternative splicing ( exons 1 and 1a were used simultaneously as transcription-starting exons; promoter region of exon 1a in which the Sp1 transcription factor is specifically involved in promoter activity)
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3108 - 282 - 2019 30521874
    10 - 1178 - 282 - 2019 30521874
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
    Reproductivefemale systemuteruscervix highly
    Skin/Tegumentskin   highly
    Urinarykidney     Homo sapiens
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion urine, semen, saliva
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated Other
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,nucleus,chromatin/chromosome
    intracellular,nuclear envelope
    text stored in zymogen granules and found in the nuclear envelope
    basic FUNCTION
  • deoxyribonuclease, endonuclease, involved in nuclear DNA degradation during apoptosis
  • seems to be involved in cell death by apoptosis
  • it is possible that DNASE1 plays an important role in the development of SLE nephropathy
  • DNASE1 plays an important role in the hydrolysis of double-stranded DNA and might be related to autoimmunity
  • DNASE1 is able to tolerate the generation of nonsynonymous SNPs, and the amino-acid substitutions resulting from the SNPs in DNASE1 easily alter the activity
  • is an endonuclease responsible for the destruction of chromatin during apoptosis
  • is involved in chromatin degradation of apoptotic cells
  • DNASE1 and DNASE1L3, degraded neutrophil extracellular traps (NETs), in circulation during sterile neutrophilia and septicemia
  • DNASE1 can impact HBV replication through the catabolism of the DNA genome within the capsid
  • DNASE1 has likely a role in generating short <150 bp fragments
    • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA associated
    RNA
    small molecule metal binding, cofactor,
  • calcium Ca2+
  • magnesium Mg2+
    • protein
  • binds specifically to G-actin and blocks actin polymerization
  • HMGN1 modulates nucleosome occupancy and DNASE1 hypersensitivity at the CpG island promoters of embryonic stem cells 6)
  • IL1B promotes nuclear DNASE1 translocation in an endonuclease-inactive form
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    and heterozygous nonsense mutation in systemic lupus erythematosus
    constitutional     --over  
    serum DNASE1-activity is significantly decreased in autoimmune liver diseases (ALD) patients
    constitutional     --over  
    in type 2 diabetes, and high glucose combined with increased DNASEI is suggested to aggravate beta-cell apoptosis
    constitutional     --low  
    of the DNASE1 mRNA expression in patients with autoimmune thyroid disease
    Susceptibility
  • to thyroid autoimmunity
    • Variant & Polymorphism SNP
  • novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity
    • Candidate gene
    Marker
  • decrease of DNASE1 activity in systemic lupus erythematosus (SLE) flare-ups might be a functional biomarker of a subset of patients with specific dysfunction of apoptotic chromatin degradation
    • Therapy target
    ANIMAL & CELL MODELS
  • Dnase1-deficient mice develop an SLE-like disease, but these mice also carry a deletion of the gene adjacent to Dnase1, which encodes the chaperone TRAP1/HSP75