DNASE1
Function
Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs (PubMed:11241278, PubMed:2251263, 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).
Involvement in disease
Systemic lupus erythematosus
SLE
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry. Neutrophil extracellular traps (NETs) are impaired in patients suffering from SLE (PubMed:20439745). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (PubMed:20439745).
Sequence Similarities
Belongs to the DNase I family.
Tissue Specificity
Principally in tissues of the digestive system. Highest levels found in urine, but also relatively abundant in semen and saliva.
Cellular localization
- Secreted
- Zymogen granule
- Nucleus envelope
- Secretory protein, stored in zymogen granules and found in the nuclear envelope.
Alternative names
DNL1, DRNI, DNASE1, Deoxyribonuclease-1, Deoxyribonuclease I, DNase I