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DNASE1 deoxyribonuclease 1 [ Homo sapiens (human) ]

Gene ID: 1773, updated on 29-Mar-2023

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_2023_03 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3611760..3665461)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3639029..3692728)
105.20220307 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 LOC105371060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3630649-3631444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3639498-3640244 Neighboring gene SLX4 structure-specific endonuclease subunit 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 TNF receptor associated protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3721637-3722136 Neighboring gene uncharacterized LOC124903630

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. Significant Association of DNASE1 Variable Number Tandem Repeats and Single Nucleotide Polymorphisms With Gastric Cancer. Kafil A, et al. Br J Biomed Sci, 2022. PMID 35996518, Free PMC Article
  2. Deoxyribonuclease 1 Q222R single nucleotide polymorphism and long-term mortality after acute myocardial infarction. Hofbauer TM, et al. Basic Res Cardiol, 2021 Apr 23. PMID 33891165, Free PMC Article
  3. 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. Xia Y, et al. Mol Oncol, 2020 Nov. PMID 32813937, Free PMC Article
  4. 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. Ueki M, et al. Sci Rep, 2019 Sep 20. PMID 31541133, Free PMC Article
  5. Hypoxia-induced human deoxyribonuclease I is a cellular restriction factor of hepatitis B virus. Hallez C, et al. Nat Microbiol, 2019 Jul. PMID 30936483

See all (96) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. The Nexus of cfDNA and Nuclease Biology.
    Title: The Nexus of cfDNA and Nuclease Biology.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Genetic variants in DNase I hypersensitive sites play an important role in carcinogenesis. two novel single nucleotide polymorphisms rs12309362 (odds ratio = 0.64, P = 5.61 x 10(-6) ) and rs9970827 (odds ratio = 0.73, P = 7.23 x 10(-6) ) significantly associated with decreased risk of HCC.
    Title: Systematical analyses of variants in DNase I hypersensitive sites to identify hepatocellular carcinoma susceptibility loci in a Chinese population.
  10. Serum DNase1-activity is significantly decreased in ALD patients, indicating its potential implication in their pathogenesis. Furthermore, DNase1-activity could be used as a new surrogate biomarker for predicting response to AIH treatment.
    Title: Decreased serum DNase1-activity in patients with autoimmune liver diseases.
Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
Compare labs

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)

Genotypes

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
 PubMed 
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables deoxyribonuclease I activity IEA
Inferred from Electronic Annotation
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
 PubMed 
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
 PubMed 
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
    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
    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
    P24855, 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_2023_03

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
    Q14UV0

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

    UniProtKB/Swiss-Prot
    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
    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

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

  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

  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

Gene LinkOut

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