Version 5.4
Homo sapiens Gene: DNASE1
Summary
InnateDB Gene IDBG-236686.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNASE1
Gene Name deoxyribonuclease I
Synonyms DNL1; DRNI
Species Homo sapiens
Ensembl Gene ENSG00000213918
Encoded Proteins
IDBP-12229
deoxyribonuclease I
IDBP-294730
deoxyribonuclease I
IDBP-752988
IDBP-748567
IDBP-747812
IDBP-754187
IDBP-749509
IDBP-745659
IDBP-749505
IDBP-754208
IDBP-752627
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:3611728-3680143
Strand Forward strand
Band p13.3
Transcripts
ENST00000246949 ENSP00000246949
ENST00000407479 ENSP00000385905
ENST00000573804
ENST00000576792 ENSP00000461129
ENST00000570664 ENSP00000459507
ENST00000571460 ENSP00000459850
ENST00000570761
ENST00000572237 ENSP00000461527
ENST00000570520
ENST00000570376 ENSP00000461725
ENST00000570807 ENSP00000458959
ENST00000576050 ENSP00000461745
ENST00000575479 ENSP00000461153
ENST00000570769 ENSP00000458467
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0004530 deoxyribonuclease I activity
GO:0004536 deoxyribonuclease activity
GO:0005515 protein binding
GO:0016888 endodeoxyribonuclease activity, producing 5'-phosphomonoesters
Biological Process
GO:0000737 DNA catabolic process, endonucleolytic
GO:0006308 DNA catabolic process
GO:0006915 apoptotic process
Cellular Component
GO:0005576 extracellular region
GO:0005635 nuclear envelope
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000005980
View Gene Order
ENSBTAG00000020107
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 1773
UniGene Hs.629638 Hs.733045
RefSeq NM_005223 XM_005255148 XM_006720853 XM_006720854
HUGO HGNC:2956
OMIM 125505
CCDS CCDS10507
HPRD 00509
IMGT
EMBL
GenPept
RNA Seq Atlas 1773

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca