DNASE1

Also known as DNL1, DRNI, deoxyribonuclease I, deoxyribonuclease 1, Deoxyribonuclease I, deoxyribonuclease-1, DNase I

protein-coding gene in the species Homo sapiens

Gene data

DNASE1

Name: deoxyribonuclease 1
Type: protein-coding
Position: 3,611,728–3,680,143 (+)
Aliases: DNL1, DRNI
Ensembl: ENSG00000213918
RefSeq RNA: NM_001351825.2, NM_001387135.1, NM_001387139.1, NM_001387140.1, NM_001387141.1
RefSeq protein: NP_001338754.1, NP_001374064.1, NP_001374068.1, NP_001374069.1, NP_001374070.1

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].