DNASE1

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]

Description

Deoxyribonuclease 1

Tissue specificity

Tissue enhanced (intestine)

Subcell location

Vesicles

Predicted location

Intracellular, Secreted in other tissues

Protein family

Disease related genes
Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

16 (3611728 - 3680143)

Ensembl ID

ENSG00000213918  (ver. 103.38)

Orthologs

Mouse Dnase1: ENSMUSG00000005980

UniProt

P24855

neXtProt

NX_P24855

Human splice variants
Mouse splice variants

Protein structure