DNASE1: Deoxyribonuclease 1
Key enzyme in DNA degradation, apoptosis, and autoimmune disease susceptibility
Gene Information Card
| Symbol | DNASE1 |
|---|---|
| Full Name | Deoxyribonuclease 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 1773 ncbi.nlm.nih.gov/gene/1773 |
| Ensembl ID | ENSG00000131669 |
| UniProt ID | P24855 |
| OMIM ID | 125505 |
| HGNC ID | 2956 |
| Aliases | DNASE1, DNL1, DRNI, deoxyribonuclease I |
Description
DNASE1 encodes deoxyribonuclease I, an endonuclease that cleaves DNA preferentially at phosphodiester linkages adjacent to a pyrimidine nucleotide, yielding 5'-phosphate-terminated polynucleotides with a free hydroxyl group at position 3'. The enzyme is involved in DNA degradation during apoptosis and in the clearance of extracellular DNA. Mutations in DNASE1 are associated with systemic lupus erythematosus (SLE) and other autoimmune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus (SLE) | Loss-of-function mutations reduce clearance of apoptotic DNA, leading to autoantibody production and immune complex deposition | ClinVar, OMIM |
| Autoimmune lymphoproliferative syndrome (ALPS) | Impaired DNase I activity disrupts apoptotic DNA fragmentation, contributing to lymphocyte accumulation | OMIM |
| Susceptibility to systemic sclerosis | Reduced DNase I activity may impair removal of extracellular DNA, promoting fibrosis | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 12.3 | Medium |
| Pancreas | 9.8 | Medium |
| Kidney | 6.5 | Low |
| Liver | 4.2 | Low |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.7 | Embryonic kidney cells |
| HeLa | 6.4 | Cervical carcinoma cells |
| HepG2 | 5.1 | Hepatocellular carcinoma cells |
| A549 | 3.9 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.31C>T (p.Arg11Cys) | Missense | Rare | Reduced enzymatic activity; associated with SLE |
| c.121G>A (p.Glu41Lys) | Missense | Rare | Impaired DNA binding; linked to autoimmune disease |
| c.284T>C (p.Leu95Pro) | Missense | Rare | Loss of function; reported in SLE patients |
Mutation functional classification
Loss of Function (LOF)
Most DNASE1 mutations reduce or abolish DNase I activity, impairing clearance of extracellular DNA and apoptotic debris, leading to autoimmunity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DNASE1.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by forming inactive dimers with wild-type enzyme, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • deoxyribonuclease activity (GO:0004536) | • DNA catabolic process (GO:0006308) |
| • apoptotic process (GO:0006915) | • extracellular region (GO:0005576) |
| • nucleus (GO:0005634) |
Pathways
• Apoptosis - DNA fragmentation (Reactome: R-HSA-140342)
• Clearance of dying cells (Reactome: R-HSA-2024096)
Protein Summary
Deoxyribonuclease I (DNase I) is a 260-amino acid secreted endonuclease that hydrolyzes double-stranded DNA to produce 5'-phosphorylated oligonucleotides. It is expressed in various tissues, with highest levels in salivary glands and pancreas. The enzyme functions in the extracellular space to degrade DNA released from necrotic or apoptotic cells, preventing immune activation. DNase I requires Ca2+ and Mg2+ for activity and is inhibited by actin. Structural analysis reveals a central beta-sheet flanked by alpha-helices, with a conserved active site (His134, His252, Asp212).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNASE1L3 Knockout HEK293 Cell Line | EDJ-KQ4460 | Human | 1776 | Details Get a Quote |
| DNASE1L2 Knockout HEK293 Cell Line | EDJ-KQ4461 | Human | 1775 | Details Get a Quote |
| DNASE1L1 Knockout HEK293 Cell Line | EDJ-KQ4462 | Human | 1774 | Details Get a Quote |
| DNASE1 Knockout HEK293 Cell Line | EDJ-KQ4465 | Human | 1773 | Details Get a Quote |
| DNASE1L2 Knockout HeLa Cell Line | EDJ-KQ27017 | Human | 1775 | Details Get a Quote |
| DNASE1L1 Knockout A-549 Cell Line | EDJ-KQ27018 | Human | 1774 | Details Get a Quote |
| DNASE1L1 Knockout HCT 116 Cell Line | EDJ-KQ27019 | Human | 1774 | Details Get a Quote |
| DNASE1 Knockout A-549 Cell Line | EDJ-KQ27024 | Human | 1773 | Details Get a Quote |
| DNASE1 Knockout HCT 116 Cell Line | EDJ-KQ27025 | Human | 1773 | Details Get a Quote |
| DNASE1 Knockout HeLa Cell Line | EDJ-KQ27026 | Human | 1773 | Details Get a Quote |
| DNASE1L1 Knockout HeLa Cell Line | EDJ-KQ25756 | Human | 1774 | Details Get a Quote |
| DNASE1L3 Knockout HeLa Cell Line | EDJ-KQ53101 | Human | 1776 | Details Get a Quote |
| DNASE1L2 Knockout A-549 Cell Line | EDJ-KQ61574 | Human | 1775 | Details Get a Quote |
| DNASE1L3 Knockout A-549 Cell Line | EDJ-KQ61575 | Human | 1776 | Details Get a Quote |
| DNASE1L2 Knockout HCT 116 Cell Line | EDJ-KQ70064 | Human | 1775 | Details Get a Quote |
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