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FLASH GENE
Symbol DNASE1 contributors: mct - updated : 25-02-2020
HGNC name deoxyribonuclease I
HGNC id 2956
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