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FLASH GENE
Symbol DNASE1 contributors: mct - updated : 09-04-2008
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
    EC.number 3.1.21.1
    DNA
    TYPE functioning gene
    STRUCTURE 5.00 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
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3108 - 282 - Ni (2008)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
     stomach    
    Reproductivefemale systemuteruscervix highly
    Skin/Tegumentskin   highly
    Visualeye   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivegastric
    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
  • 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
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS