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DNASE1 Gene

protein-coding   GIFtS: 62
GCID: GC16P003663

Deoxyribonuclease I


(Previous symbol: DNL1)
  See DNASE1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Deoxyribonuclease I1 2 3     deoxyribonuclease-12
DNL11 2 3 5     DNase I, Lysosomal2
DRNI2 3     Human Urine Deoxyribonuclease I2
Dornase Alfa2 3     DNase I3
EC 3.1.21.13 8     

External Ids:    HGNC: 29561   Entrez Gene: 17732   Ensembl: ENSG000002139187   OMIM: 1255055   UniProtKB: P248553   

Export aliases for DNASE1 gene to outside databases

Previous GC identifers: GC16P003733 GC16P003704 GC16P003630 GC16P003692


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DNASE1 Gene:
This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear
envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles
have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record.
Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A
recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the
extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene
have been observed but have not been thoroughly characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for DNASE1 Gene:
DNASE1 (deoxyribonuclease I) is a protein-coding gene. Diseases associated with DNASE1 include dnase1-related susceptibility to systemic lupus erythematosus, and systemic lupus erythematosus. GO annotations related to this gene include deoxyribonuclease I activity and actin binding. An important paralog of this gene is DNASE1L3.

UniProtKB/Swiss-Prot: DNAS1_HUMAN, P24855
Function: Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin
and blocks actin polymerization (By similarity)

Gene Wiki entry for DNASE1 (Deoxyribonuclease I) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DNASE1 gene promoter:
         GR   AML1a   GR-beta   Tal-1beta   E47   CP2   GR-alpha   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): DNASE1 promoter sequence
   Search Chromatin IP Primers for DNASE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DNASE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

DNASE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNASE1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P003663:  view genomic region     (about GC identifiers)

Start:
3,661,729 bp from pter      End:
3,730,144 bp from pter
Size:
68,416 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DNAS1_HUMAN, P24855 (See protein sequence)
Recommended Name: Deoxyribonuclease-1 precursor  
Size: 282 amino acids; 31434 Da
Cofactor: Divalent cations. Prefers calcium or magnesium
1 PDB 3D structure from and Proteopedia for DNASE1:
4AWN (3D)    
Secondary accessions: Q14UU9 Q14UV0

Explore the universe of human proteins at neXtProt for DNASE1: NX_P24855

Explore proteomics data for DNASE1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn40, Asn128
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DNASE1 (P24855) (see all 9)
     FAIVPLH  YKERYLF  CAYDRIV  AVGKLLD 


    See DNASE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005214.2  
    ENSEMBL proteins: 
     ENSP00000458467   ENSP00000461745   ENSP00000385905   ENSP00000246949   ENSP00000459850  
     ENSP00000461725   ENSP00000458959   ENSP00000461527   ENSP00000459507   ENSP00000461129  
     ENSP00000461153   ENSP00000416699  

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    Novus Biologicals DNASE1 Proteins
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    Sino Biological Recombinant Protein for DNASE1
    Sino Biological Cell Lysate for DNASE1
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    Cloud-Clone Corp. Proteins for DNASE1

     
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    Search eBioscience for ELISAs for DNASE1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR018057 Deoxyribonuclease-1_AS
     IPR016202 DNase_I
     IPR005135 Endo/exonuclease/phosphatase

    Graphical View of Domain Structure for InterPro Entry P24855

    ProtoNet protein and cluster: P24855

    1 Blocks protein domain: IPB008185 Deoxyribonuclease I

    UniProtKB/Swiss-Prot: DNAS1_HUMAN, P24855
    Similarity: Belongs to the DNase I family


    Find genes that share domains with DNASE1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DNAS1_HUMAN, P24855
    Function: Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin
    and blocks actin polymerization (By similarity)
    Catalytic activity: Endonucleolytic cleavage to 5'-phosphodinucleotide and 5'-phosphooligonucleotide end-products

         Genatlas biochemistry entry for DNASE1:
    deoxyribonuclease I,involved in nuclear DNA degradation during apoptosis

         Enzyme Number (IUBMB): EC 3.1.21.11 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0004530deoxyribonuclease I activity IEA--
    GO:0004536deoxyribonuclease activity ----
    GO:0005515protein binding IPI12849983
    GO:0016888endodeoxyribonuclease activity, producing 5'-phosphomonoesters ----
         
    Find genes that share ontologies with DNASE1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DNASE1:
     Proliferating cells 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dnase1):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     renal/urinary system 

    Find genes that share phenotypes with DNASE1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dnase1tm1Tmo for DNASE1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DNASE1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNASE1
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    Gene Editing
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    Sino Biological Human cDNA Clone for DNASE1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DNAS1_HUMAN, P24855: Secreted. Nucleus envelope. Note=Secretory protein, stored in zymogen granules and found in
    the nuclear envelope
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus5
    cytoskeleton2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005635nuclear envelope IEA--

    Find genes that share ontologies with DNASE1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DNASE1
    Interactions:

        Search GeneGlobe Interaction Network for DNASE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for DNASE1 (P248553 ENSP000002469494) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTBP607093, ENSP000003499604I2D: score=3 STRING: ENSP00000349960
    AICDAQ9GZX73, ENSP000002293354I2D: score=1 STRING: ENSP00000229335
    ACTA1P681333, ENSP000003556454I2D: score=3 STRING: ENSP00000355645
    ACTG1P632613, ENSP000003315144I2D: score=2 STRING: ENSP00000331514
    ACTA2P627363, ENSP000002247844I2D: score=2 STRING: ENSP00000224784
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006308DNA catabolic process ----
    GO:0006915apoptotic process IEA--

    Find genes that share ontologies with DNASE1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DNASE1 (DNAS1)

    UniProtKB/Swiss-Prot: DNAS1_HUMAN, P24855
    Pharmaceutical: Available under the name Pulmozyme (Genentech). Used to reduce the viscosity of cystic fibrosis
    sputum by hydrolyzing the extracellular DNA released by degenerating leukocytes that accumulate in response to
    infection

    2 HMDB Compounds for DNASE1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 DrugBank Compound for DNASE1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target--10592235

    Selected Novoseek inferred chemical compound relationships for DNASE1 gene (see all 121)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dimethyl sulfate 79.4 39 19378167 (2), 1729591 (2), 8218210 (1), 8993038 (1) (see all 27)
    bepi 70.5 2 8639533 (1), 8604349 (1)
    n-methylpyrrole 68.1 3 20338768 (1), 10753636 (1), 19926483 (1)
    dhs1 65.6 2 11181063 (1), 16116039 (1)
    chloramphenicol 63.8 2 8621633 (1), 8015548 (1)
    oligonucleotide 63.3 31 15080668 (2), 8808703 (1), 8876167 (1), 9524225 (1) (see all 27)
    netropsin 60.2 6 9058600 (1), 9845351 (1), 1966670 (1), 9770648 (1) (see all 6)
    sodium tetrathionate 59.8 1 9450635 (1)
    mithramycin 59.7 12 7880543 (2), 1829382 (1), 1827033 (1), 7529756 (1) (see all 10)
    echinomycin 57.1 4 8369281 (2), 1762902 (1), 1762903 (1)



    Find genes that share compounds with DNASE1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DNASE1 gene: 
    NM_005223.3  

    Unigene Cluster for DNASE1:

    Deoxyribonuclease I
    Hs.629638  [show with all ESTs]
    Unigene Representative Sequence: BX648480
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000570769 ENST00000576050 ENST00000570761 ENST00000407479 ENST00000246949(uc002cvr.3)
    ENST00000571460 ENST00000570520 ENST00000570376 ENST00000573804 ENST00000570807
    ENST00000572237 ENST00000570664 ENST00000576792 ENST00000575479 ENST00000575152(uc002cvu.3)
    ENST00000414110
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      QuantiFast Probe-based Assays in human, mouse, rat DNASE1

    Additional mRNA sequence: 

    AB188151.1 AB188152.1 AJ298844.1 AK095412.1 AK126850.1 AK300914.1 BC015002.1 BC029437.1 
    BX648480.1 M55983.1 

    16 DOTS entries:

    DT.448353  DT.110010  DT.91692234  DT.100827945  DT.40190387  DT.95287041  DT.454812  DT.97855786 
    DT.408947  DT.120677523  DT.80100387  DT.100758825  DT.100827956  DT.120677569  DT.100827944  DT.91905331 

    Selected AceView cDNA sequences (see all 166):

    AI652114 AI364061 AI686298 BM989163 AI865260 BC064332 CF142227 AI298489 
    BI769025 AW504161 CF143560 BQ278845 CF138729 BE218479 BX110155 CB050055 
    AA283966 CF136985 BC015002 BM789390 BM923959 AI692769 BM994588 BC029437 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DNASE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCACACGTGC
    DNASE1 Expression
    About this image

    DNASE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DNASE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.629638

    UniProtKB/Swiss-Prot: DNAS1_HUMAN, P24855
    Tissue specificity: Principally in tissues of the digestive system. Highest levels found in urine, but also
    relatively abundant in semen and saliva

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DNASE1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnase11 , 5 deoxyribonuclease I1, 5 78.67(n)1
    81.61(a)1
      16 (2.37 cM)5
    134191  NM_010061.51  NP_034191.31 
     40369425 
    chicken
    (Gallus gallus)
    Aves DNASE11 deoxyribonuclease I 65.26(n)
    58.24(a)
      395725  NM_206957.1  NP_996840.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    60(a)
    many ↔ many
    AAWZ02036670(16766-23809)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004930981 deoxyribonuclease-1-like 58.33(n)
    53.46(a)
      100493098  XM_002932463.2  XP_002932509.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.195192 Transcribed sequence with weak similarity to protein more 82.62(n)    AL913333.1 


    ENSEMBL Gene Tree for DNASE1 (if available)
    TreeFam Gene Tree for DNASE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DNASE1 gene
    DNASE1L32  DNASE1L22  DNASE1L12  
    3 SIMAP similar genes for DNASE1 using alignment to 10 protein entries:     DNAS1_HUMAN (see all proteins):
    DNASE1L2    DNASE1L3    DNASE1L1

    Find genes that share paralogs with DNASE1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    DNAS1_HUMAN, P24855: At least 6 alleles of DNASE1 are known: DNASE1*1 to DNASE1*6. The sequence shown is that of DNASE1*2


    Selected SNPs for DNASE1 (see all 305)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1149112331,2
    C,F--3636860(+) AGACCA/GTGAAT 1 -- us2k11Minor allele frequency- G:0.14WA 118
    rs1483579351,2
    --3636920(+) TCTGAC/TGGTGC 1 -- us2k10--------
    rs1923144291,2
    --3636928(+) TGCTCC/TGTGAG 1 -- us2k10--------
    rs1841539361,2
    --3637014(+) GGGTAC/TCCTCC 1 -- us2k10--------
    rs1414598881,2
    C--3637079(+) GGCCAC/GCAGCG 1 -- us2k10--------
    rs1474874931,2
    C--3637201(+) TGTTAC/TGTGCT 1 -- us2k10--------
    rs1896975551,2
    --3637329(+) TTGCCA/GTTGGC 1 -- us2k10--------
    rs1382679141,2
    --3637380(+) GGCTGC/GGCTTC 1 -- us2k10--------
    rs1926599941,2
    --3637496(+) ACCCAC/TGGAAT 1 -- us2k10--------
    rs1438382801,2
    C--3637519(+) GACAGC/TAGCCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNASE1 (3661729 - 3730144 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DNASE1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2750414CNV Deletion23290073
    esv2750415CNV Deletion23290073
    esv2659167CNV Deletion23128226
    esv2750416CNV Deletion23290073
    esv2750413CNV Deletion23290073
    nsv905213CNV Loss21882294
    nsv525301CNV Loss19592680
    nsv457359CNV Loss19166990
    nsv905216CNV Loss21882294
    nsv833128CNV Loss17160897

    Human Gene Mutation Database (HGMD): DNASE1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DNASE1
    DNA2.0 Custom Variant and Variant Library Synthesis for DNASE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 125505   
    OMIM disorders: 152700  
    UniProtKB/Swiss-Prot: DNAS1_HUMAN, P24855
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile
    multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints,
    kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory
    mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated
    erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • 9 diseases for DNASE1:    
    About MalaCards
    dnase1-related susceptibility to systemic lupus erythematosus    systemic lupus erythematosus    lupus nephritis    sle susceptibility
    lupus erythematosus    cystic fibrosis    bronchitis    angelman syndrome
    myocardial infarction

    3 diseases from the University of Copenhagen DISEASES database for DNASE1:
    Cystic fibrosis     Lupus erythematosus     Connective tissue disease

    Find genes that share disorders with DNASE1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DNASE1 gene (see all 64)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythroleukemia 59.1 6 14506241 (1), 8360172 (1), 7615541 (1), 11241278 (1) (see all 6)
    cystic fibrosis 51.9 48 9476859 (3), 8711640 (2), 19807335 (2), 7606951 (2) (see all 34)
    choriocarcinoma 33.1 1 10715552 (1)
    carcinoma embryonal 26.3 1 10644833 (1)
    lupus erythematosus systemic 24.1 15 19863681 (2), 14872509 (1), 9660804 (1), 11479590 (1) (see all 9)
    hepatoblastoma 19.5 1 9852068 (1)
    immunodeficiency 17.6 23 16236265 (1), 19223184 (1), 8051074 (1), 7537089 (1) (see all 22)
    cervical carcinoma 10.9 2 17439396 (1), 7507697 (1)
    leukemia 9.15 6 9808573 (1), 1703303 (1), 11867721 (1), 12183432 (1) (see all 6)
    cell damage 4.73 1 17468836 (1)

    Genetic Association Database (GAD): DNASE1
    Human Genome Epidemiology (HuGE) Navigator: DNASE1 (22 documents)

    Export disorders for DNASE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DNASE1 gene, integrated from 10 sources (see all 795):
    (articles sorted by number of sources associating them with DNASE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular analysis of HumDN1 VNTR polymorphism of the human deoxyribonuclease I in systemic lupus erythematosus. (PubMed id 19863681)1, 4, 9 AlFadhli S....Rebai A. (Int. J. Immunogenet. 2010)
    2. Analysis of genetic polymorphism of deoxyribonuclease I in Ovambo and Turk populations using a genotyping method. (PubMed id 16382368)1, 4, 9 Fujihara J....Takeshita H. (Biochem. Genet. 2005)
    3. Characterization of human deoxyribonuclease I gene (DNASE1) promoters reveals the utilization of two transcription-starting exons and the involvement of Sp1 in its transcriptional regulation. (PubMed id 16771825)1, 2, 9 Kominato Y.... Yasuda T. (FEBS J. 2006)
    4. Mutation of DNASE1 in people with systemic lupus erythematosus. (PubMed id 11479590)1, 2, 9 Yasutomo K.... Kuroda Y. (Nat. Genet. 2001)
    5. Structure of the human deoxyribonuclease I (DNase I) gene: identification of the nucleotide substitution that generates its classical genetic polymorphism. (PubMed id 7762978)1, 2, 9 Yasuda T.... Yoshida A. (Ann. Hum. Genet. 1995)
    6. A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity. (PubMed id 19022625)1, 4, 9 Dittmar M....Kahaly G.J. (J. Autoimmun. 2009)
    7. Geographical north-south decline in DNASE1*2 in Japanese populations. (PubMed id 11332641)1, 4, 9 Takeshita H....Kimura H. (Hum. Biol. 2001)
    8. The fifth allele of the human deoxyribonuclease I (DNase I) polymorphism. (PubMed id 9420147)1, 2, 9 Iida R.... Kishi K. (Electrophoresis 1997)
    9. Gln222Arg (A2317G) polymorphism in the deoxyribonuclease I gene exhibits ethnic and functional differences. (PubMed id 19055475)1, 4, 9 Takeshita H....Fujihara J. (Clin. Chem. Lab. Med. 2009)
    10. DNase I mediates internucleosomal DNA degradation in human cells undergoing drug-induced apoptosis. (PubMed id 11241278)1, 2, 9 Oliveri M.... Puccetti A. (Eur. J. Immunol. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1773 HGNC: 2956 AceView: DNASE1 Ensembl:ENSG00000213918 euGenes: HUgn1773
    ECgene: DNASE1 H-InvDB: DNASE1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DNASE1 Pharmacogenomics, SNPs, Pathways
    Pulmozymehttp://www.pulmozyme.com/index.jsp
    Wikipedia http://en.wikipedia.org/wiki/Deoxyribonuclease

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DNASE1 gene:
    Search GeneIP for patents involving DNASE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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