DNASE1 deoxyribonuclease 1 [Homo sapiens (human)] - Gene

Summary

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

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
The protective effect of DNase I in retinal vein occlusion.
Title: The protective effect of DNase I in retinal vein occlusion.
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.
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.
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.
The Nexus of cfDNA and Nuclease Biology.
Title: The Nexus of cfDNA and Nuclease Biology.
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.
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.
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.
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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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

csnpdnase1-pcr1-1 (e-PCR)
- UniSTS:257064

csnpdnase1-pcr2-1 (e-PCR)
- UniSTS:257065

csnpdnase1-pcr3-1 (e-PCR)
- UniSTS:257066

csnpdnase1-pcr4-1 (e-PCR)
- UniSTS:257067

csnpdnase1-pcr5-1 (e-PCR)
- UniSTS:257068

csnpdnase1-pcr6-1 (e-PCR)
- UniSTS:257069

csnpdnase1-pcr7-1 (e-PCR)
- UniSTS:257070

csnpdnase1-pcr8-1 (e-PCR)
- UniSTS:257071

D8S2279 (e-PCR)
- UniSTS:473907

RH103299 (e-PCR)
- UniSTS:97630

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

D21S1903 (e-PCR)
- UniSTS:50814

GDB:624523 (e-PCR)
- UniSTS:158340

GDB:624528 (e-PCR)
- UniSTS:158343

GDB:624541 (e-PCR)
- UniSTS:158345

GDB:624544 (e-PCR)
- UniSTS:158346

GDB:545412 (e-PCR)
- UniSTS:157584

GDB:545415 (e-PCR)
- UniSTS:157585

RH45732 (e-PCR)
- UniSTS:91560

SHGC-57870 (e-PCR)
- UniSTS:72932

RH69144 (e-PCR)
- UniSTS:67308

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA nuclease activity	IEA Inferred from Electronic Annotation more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables deoxyribonuclease I activity	IBA Inferred from Biological aspect of Ancestor more info
enables deoxyribonuclease I activity	IEA Inferred from Electronic Annotation more info
enables endonuclease activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables nuclease 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
involved_in DNA catabolic process	IEA Inferred from Electronic Annotation 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	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	IEA Inferred from Electronic Annotation more info
involved_in regulation of acute inflammatory response	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of neutrophil mediated cytotoxicity	IEA Inferred from Electronic Annotation more info
involved_in regulation of neutrophil mediated cytotoxicity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
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 nucleus	IEA Inferred from Electronic Annotation 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

EC 3.1.21.1

NP_001374064.1

EC 3.1.21.1

NP_001374068.1

EC 3.1.21.1

NP_001374069.1

EC 3.1.21.1

NP_001374070.1

EC 3.1.21.1

NP_005214.2

EC 3.1.21.1

XP_024305938.1

EC 3.1.21.1

XP_047289631.1

EC 3.1.21.1

XP_047289632.1

EC 3.1.21.1

XP_047289633.1

EC 3.1.21.1

XP_047289634.1

EC 3.1.21.1

XP_047289635.1

EC 3.1.21.1

XP_047289636.1

EC 3.1.21.1

XP_047289638.1

EC 3.1.21.1

XP_047289639.1

EC 3.1.21.1

XP_054235690.1

EC 3.1.21.1

XP_054235691.1

EC 3.1.21.1

XP_054235692.1

EC 3.1.21.1

XP_054235693.1

EC 3.1.21.1

XP_054235694.1

EC 3.1.21.1

XP_054235695.1

EC 3.1.21.1

XP_054235696.1

EC 3.1.21.1

XP_054235697.1

EC 3.1.21.1

XP_054235698.1

EC 3.1.21.1

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

NG_009285.2 RefSeqGene

Range

47933..51337

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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