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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
    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
    Physical map
    NK4 16p13.3 adenylate cyclase 9 ZNF206 16p13.3 zinc finger protein 206 MGC3771 16p13.3 hypothetical protein MGC3771 ZNF205 16p13.3 zinc finger protein 205 ZNF213 16p13.3 zinc finger protein 213 LOC197350 16p13.3 hypothetical protein LOC197350 OR1F1 16p13.3 olfactory receptor, family 1, subfamily F, member 1 OR1F2 16p13.3 olfactory receptor, family 1, subfamily F, member 2 ZNF200 16p13.3 zinc finger protein 200 MEFV 16p13.3 Mediterranean fever FLJ39639 16p13.3 hypothetical protein FLJ39639 ZNF263 16p13.3 zinc finger protein 263 TIGD7 16p13.11 tigger transposable element derived 7 ZNF75A 16p13.11 zinc finger protein 75a LOC390670 16 similar to ribosomal protein L7-like 1 OR2C1 16p13.3 olfactory receptor, family 2, subfamily C, member 1 ZNF434 16p13.3 zinc finger protein 434 ZNF174 16p13.3 zinc finger protein 174 FLJ33071 16p13.3 hypothetical protein FLJ33071 LOC388207 16 LOC388207 FLJ14154 16p13.3 hypothetical protein FLJ14154 LOC390671 16 similar to ribosomal protein L18; 60S ribosomal protein L18 KIAA0643 16p13.3 similar to ribosomal protein L18; 60S ribosomal protein L18 NOD3 16p13.3 NOD3 protein BTBD12 16p13.3 BTB (POZ) domain containing 12 LOC283877 16p13.3 hypothetical LOC283877 DNASE1 16p13.3 deoxyribonuclease I TRAP1 15q25-q26 tumor rejection antigen (gp96) pseudogene 1 CREBBP 16p13.3 CREB binding protein (Rubinstein-Taybi syndrome) ADCY9 16p13.3 adenylate cyclase 9 LOC388208 16 LOC388208 SRL 16p13.3 sarcalumenin
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3108 - 282 - 2019 30521874
    10 - 1178 - 282 - 2019 30521874
    Type ubiquitous
       expressed in (based on citations)
    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
    conjugated Other
    CATEGORY enzyme
    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
    a component
    DNA associated
    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
    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
  • 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
  • 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
  • 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