Deoxyribonuclease I (DNase) Human Active Protein

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]

DNASE1: Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization. Defects in DNASE1 are a cause of susceptibility to systemic lupus erythematosus (SLE). A chronic, inflammatory and often febrile multisystemic disorder of connective tissue. It affects principally the skin, joints, kidneys and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the autoimmune system. Belongs to the DNase I family.

Protein type: Secreted, signal peptide; Deoxyribonuclease; Secreted; EC 3.1.21.1; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 16p13.3

Cellular Component: extracellular region; nuclear envelope; nucleus

Molecular Function: protein binding; deoxyribonuclease I activity; actin binding; endodeoxyribonuclease activity

Biological Process: apoptosis; DNA catabolic process, endonucleolytic

Disease: Systemic Lupus Erythematosus