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    DNASE1 deoxyribonuclease 1 [ Homo sapiens (human) ]

    Gene ID: 1773, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DNASE1provided by HGNC
    Official Full Name
    deoxyribonuclease 1provided by HGNC
    Primary source
    HGNC:HGNC:2956
    See related
    Ensembl:ENSG00000213918 MIM:125505; AllianceGenome:HGNC:2956
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DNL1; DRNI
    Summary
    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]
    Expression
    Ubiquitous expression in small intestine (RPKM 12.9), duodenum (RPKM 11.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNASE1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3611760..3665461)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3639029..3692728)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3661761..3715462)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903632 Neighboring gene NLR family CARD domain containing 3 Neighboring gene uncharacterized LOC105371060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3630649-3631444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3639498-3640244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10330 Neighboring gene SLX4 structure-specific endonuclease subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3690553-3691412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3691413-3692270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3692271-3693129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3694284-3695037 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3695038-3695790 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3695791-3696544 Neighboring gene uncharacterized LOC124903631 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3704869-3705396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3705397-3705924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3721637-3722136 Neighboring gene uncharacterized LOC124903630 Neighboring gene TNF receptor associated protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3746221-3746721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3763763-3764271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7138 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3781718-3781878 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3786759-3787446 Neighboring gene CREB binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3872073-3872574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3872575-3873074 Neighboring gene DPPA3 pseudogene 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Deoxyribonuclease I gene polymorphism in Han Chinese population: frequency and effect on glucose and lipid parameters. Ni Y, et al. Mol Biol Rep, 2008 Sep. PMID 17588132
    2. A novel 56-bp variable tandem repeat polymorphism in the human deoxyribonuclease I gene and its population data. Yasuda T, et al. Leg Med (Tokyo), 2004 Oct. PMID 15363449
    3. Analysis of genetic polymorphism of deoxyribonuclease I in Ovambo and Turk populations using a genotyping method. Fujihara J, et al. Biochem Genet, 2005 Dec. PMID 16382368
    4. Association of a non-synonymous single-nucleotide polymorphism of DNASEI with SLE susceptibility. Bodaño A, et al. Rheumatology (Oxford), 2006 Jul. PMID 16449364
    5. 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. Kominato Y, et al. FEBS J, 2006 Jul. PMID 16771825

    See all (98) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models.
      Title: A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models.
    2. The protective effect of DNase I in retinal vein occlusion.
      Title: The protective effect of DNase I in retinal vein occlusion.
    3. Significant Association of DNASE1 Variable Number Tandem Repeats and Single Nucleotide Polymorphisms With Gastric Cancer.
      Title: Significant Association of DNASE1 Variable Number Tandem Repeats and Single Nucleotide Polymorphisms With Gastric Cancer.
    4. Deoxyribonuclease 1 Q222R single nucleotide polymorphism and long-term mortality after acute myocardial infarction.
      Title: Deoxyribonuclease 1 Q222R single nucleotide polymorphism and long-term mortality after acute myocardial infarction.
    5. AAV-mediated gene transfer of DNase I in the liver of mice with colorectal cancer reduces liver metastasis and restores local innate and adaptive immune response.
      Title: AAV-mediated gene transfer of DNase I in the liver of mice with colorectal cancer reduces liver metastasis and restores local innate and adaptive immune response.
    6. The Nexus of cfDNA and Nuclease Biology.
      Title: The Nexus of cfDNA and Nuclease Biology.
    7. Evaluation of the functional effects of genetic variantsmissense and nonsense SNPs, indels and copy number variationsin the gene encoding human deoxyribonuclease I potentially implicated in autoimmunity.
      Title: Evaluation of the functional effects of genetic variants‒missense and nonsense SNPs, indels and copy number variations‒in the gene encoding human deoxyribonuclease I potentially implicated in autoimmunity.
    8. Human deoxyribonuclease I (DNaseI) is overexpressed and encapsidated in hepatitis B virus (HBV) particles in vitro in hypoxic environments and in vivo in cirrhotic patient livers as well as in the serum of infected patients. DNase I induces genome-free hepatitis B virions and is incorporated into hepatitis B viral capsids. A hypoxic environment enhances DNASE1 and restricts HBV.
      Title: Hypoxia-induced human deoxyribonuclease I is a cellular restriction factor of hepatitis B virus.
    9. Cigarette smoke significantly increases the expression of neutrophil and macrophage extracellular traps with coexpression of the pathogenic proteases, neutrophil elastase and matrix metalloproteinases 9 and 12. This response to cigarette smoke was significantly reduced by the addition of DNase 1, which also significantly decreased macrophage numbers and lung proteolysis.
      Title: Deoxyribonuclease 1 reduces pathogenic effects of cigarette smoke exposure in the lung.
    10. EndoG is an endonuclease with the unique ability to inactivate another endonuclease, DNase I, and to modulate the development of apoptosis.
      Title: Endonuclease G modulates the alternative splicing of deoxyribonuclease 1 mRNA in human CD4(+) T lymphocytes and prevents the progression of apoptosis.
    Submit: New GeneRIF Correction See all GeneRIFs (58)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Systemic lupus erythematosus
    MedGen: C0024141 OMIM: 152700 GeneReviews: Not available
    		not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-02-22)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-02-22)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38093, FLJ44902, DKFZp686H0155

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables deoxyribonuclease I activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neutrophil activation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of acute inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of neutrophil mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in zymogen granule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    deoxyribonuclease-1
    Names
    DNase I, lysosomal
    Dornase alfa
    deoxyribonuclease I
    human urine deoxyribonuclease I
    NP_001338754.1
    NP_001374064.1
    NP_001374068.1
    NP_001374069.1
    NP_001374070.1
    NP_005214.2
    XP_024305938.1
    XP_047289631.1
    XP_047289632.1
    XP_047289633.1
    XP_047289634.1
    XP_047289635.1
    XP_047289636.1
    XP_047289638.1
    XP_047289639.1
    XP_054235690.1
    XP_054235691.1
    XP_054235692.1
    XP_054235693.1
    XP_054235694.1
    XP_054235695.1
    XP_054235696.1
    XP_054235697.1
    XP_054235698.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009285.2 RefSeqGene

      Range
      47933..51337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351825.2 → NP_001338754.1  deoxyribonuclease-1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC006111
      Consensus CDS
      CCDS10507.1
      UniProtKB/Swiss-Prot
      B4DV35, P24855, Q14UU9, Q14UV0
      Conserved Domains (1) summary
      smart00476
      Location:21 → 282
      DNaseIc; deoxyribonuclease I

    2. NM_001387135.1 → NP_001374064.1  deoxyribonuclease-1 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AC006111
      Consensus CDS
      CCDS10507.1
      UniProtKB/Swiss-Prot
      B4DV35, P24855, Q14UU9, Q14UV0
      Conserved Domains (1) summary
      smart00476
      Location:21 → 282
      DNaseIc; deoxyribonuclease I

    3. NM_001387139.1 → NP_001374068.1  deoxyribonuclease-1 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC006111
      Conserved Domains (1) summary
      smart00476
      Location:21 → 305
      DNaseIc; deoxyribonuclease I

    4. NM_001387140.1 → NP_001374069.1  deoxyribonuclease-1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC006111
      Conserved Domains (1) summary
      smart00476
      Location:21 → 267
      DNaseIc; deoxyribonuclease I

    5. NM_001387141.1 → NP_001374070.1  deoxyribonuclease-1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC006111
      Conserved Domains (1) summary
      cl00490
      Location:8 → 213
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    6. NM_005223.4 → NP_005214.2  deoxyribonuclease-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_005214.2

      Status: REVIEWED

      Source sequence(s)
      AC006111
      Consensus CDS
      CCDS10507.1
      UniProtKB/Swiss-Prot
      B4DV35, P24855, Q14UU9, Q14UV0
      Related
      ENSP00000246949.5, ENST00000246949.10
      Conserved Domains (1) summary
      smart00476
      Location:21 → 282
      DNaseIc; deoxyribonuclease I

    RNA

    1. NR_170561.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006111

    2. NR_170562.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006111

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      3611760..3665461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450170.2 → XP_024305938.1  deoxyribonuclease-1 isoform X2

      Conserved Domains (1) summary
      smart00476
      Location:21 → 267
      DNaseIc; deoxyribonuclease I

    2. XM_047433677.1 → XP_047289633.1  deoxyribonuclease-1 isoform X1

      UniProtKB/Swiss-Prot
      B4DV35, P24855, Q14UU9, Q14UV0

    3. XM_047433675.1 → XP_047289631.1  deoxyribonuclease-1 isoform X1

      UniProtKB/Swiss-Prot
      B4DV35, P24855, Q14UU9, Q14UV0

    4. XM_047433680.1 → XP_047289636.1  deoxyribonuclease-1 isoform X5

    5. XM_047433678.1 → XP_047289634.1  deoxyribonuclease-1 isoform X3

    6. XM_047433676.1 → XP_047289632.1  deoxyribonuclease-1 isoform X1

      UniProtKB/Swiss-Prot
      B4DV35, P24855, Q14UU9, Q14UV0

    7. XM_047433682.1 → XP_047289638.1  deoxyribonuclease-1 isoform X6

    8. XM_047433679.1 → XP_047289635.1  deoxyribonuclease-1 isoform X4

    9. XM_047433683.1 → XP_047289639.1  deoxyribonuclease-1 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      3639029..3692728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379718.1 → XP_054235693.1  deoxyribonuclease-1 isoform X2

    2. XM_054379717.1 → XP_054235692.1  deoxyribonuclease-1 isoform X1

      UniProtKB/Swiss-Prot
      B4DV35, P24855, Q14UU9, Q14UV0

    3. XM_054379715.1 → XP_054235690.1  deoxyribonuclease-1 isoform X1

      UniProtKB/Swiss-Prot
      B4DV35, P24855, Q14UU9, Q14UV0

    4. XM_054379721.1 → XP_054235696.1  deoxyribonuclease-1 isoform X5

    5. XM_054379719.1 → XP_054235694.1  deoxyribonuclease-1 isoform X3

    6. XM_054379716.1 → XP_054235691.1  deoxyribonuclease-1 isoform X1

      UniProtKB/Swiss-Prot
      B4DV35, P24855, Q14UU9, Q14UV0

    7. XM_054379722.1 → XP_054235697.1  deoxyribonuclease-1 isoform X6

    8. XM_054379720.1 → XP_054235695.1  deoxyribonuclease-1 isoform X4

    9. XM_054379723.1 → XP_054235698.1  deoxyribonuclease-1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P24855.1 GenPept UniProtKB/Swiss-Prot:P24855

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