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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:125505 Ensembl IDEnsembl:ENSG00000213918 HGNC IDHGNC:HGNC:2956 PHARMGKB IDPA27427 Map Location16p13.3 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in DNASE1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0003677 | DNA binding |
| MF | IEA | GO:0003779 | actin binding |
| MF | IBA | GO:0004530 | deoxyribonuclease I activity |
| MF | IEA | GO:0004530 | deoxyribonuclease I activity |
| MF | IBA | GO:0004536 | deoxyribonuclease activity |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: DNASE1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DNASE1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| No matching records found | ||
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DNASE1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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