DNASE1 Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | DNASE1 |
| Official Name | deoxyribonuclease 1 [Source:HGNC Symbol;Acc:HGNC:2956] |
| Ensembl ID | ENSG00000213918 |
| Bio databases IDs | |
| Aliases | deoxyribonuclease 1 |
| Synonyms | Deoxyribonuclease, deoxyribonuclease 1, deoxyribonuclease I, DNaseI, DNL1, dornase alfa, dornase alpha, dornase α, DRNI, recombinantDNAse, rhDNase, Serum Dnase I |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DNASE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin-binding domain
- DNase
- Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
- Endonuclease/Exonuclease/phosphatase family
- active site
- enzyme
- protein binding
- deoxyribonuclease I
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- COVID-19
- infection
- polycystic kidney disease
- systemic lupus erythematosus
- fibrosis
- lupus erythematosus
- non-insulin-dependent diabetes mellitus
- cystic fibrosis
- glomerulonephritis
role in cell
- activation
- expression in
- survival
- binding in
- quantity
- formation
- apoptosis
- release
- removal
- aggregation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- nuclear fraction
- Cytoplasm
- nuclear envelope
- zymogen granules
- secretory granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DNASE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of neutrophil mediated cytotoxicity
- DNA catabolic process
- apoptotic process
- neutrophil activation involved in immune response
- regulation of acute inflammatory response
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- nucleus
- extracellular vesicular exosome
- extracellular region
- zymogen granule
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- actin binding
- deoxyribonuclease I activity