DNASE1


Summary: 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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
deoxyribonuclease 1MIM:125505Ensembl:ENSG00000213918HGNC:HGNC:2956PA2742716p13.3

Gene Categories:

DRUGGABLE GENOME

GO terms in DNASE1


Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0003677DNA binding
MFIEAGO:0003779actin binding
MFIBAGO:0004530deoxyribonuclease I activity
MFIEAGO:0004530deoxyribonuclease I activity
MFIBAGO:0004536deoxyribonuclease activity
MFIPIGO:0005515protein binding
BPIBAGO:0000737DNA catabolic process, endonucleolytic
BPISSGO:0000737DNA catabolic process, endonucleolytic
BPISSGO:0002283neutrophil activation involved in immune response
BPISSGO:0002673regulation of acute inflammatory response
BPIBAGO:0006308DNA catabolic process
BPIEAGO:0006915apoptotic process
BPISSGO:0070948regulation of neutrophil mediated cytotoxicity
CCTASGO:0005576extracellular region
CCIBAGO:0005634nucleus
CCIEAGO:0005635nuclear envelope
CCHDAGO:0070062extracellular exosome

Gene expression in normal tissue: DNASE1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in DNASE1


DatabasePathway IDPathway Des.

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259012

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in DNASE1

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