Aliases for DNASE1 Gene
External Ids for DNASE1 Gene
Previous HGNC Symbols for DNASE1 Gene
Previous GeneCards Identifiers for DNASE1 Gene
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]
GeneCards Summary for DNASE1 Gene
DNASE1 (Deoxyribonuclease 1) is a Protein Coding gene. Diseases associated with DNASE1 include Systemic Lupus Erythematosus and Systemic Lupus Erythematosus 16. Gene Ontology (GO) annotations related to this gene include actin binding and deoxyribonuclease activity. An important paralog of this gene is DNASE1L2.
UniProtKB/Swiss-Prot for DNASE1 Gene
Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs (PubMed:2251263, PubMed:11241278, PubMed:2277032). Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA (By similarity). Among other functions, seems to be involved in cell death by apoptosis (PubMed:11241278). Binds specifically to G-actin and blocks actin polymerization (By similarity). Together with DNASE1L3, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity).