Homo sapiens Protein: DNASE1
Summary
InnateDB Protein IDBP-12229.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNASE1
Protein Name deoxyribonuclease I
Synonyms DNL1; DRNI;
Species Homo sapiens
Ensembl Protein ENSP00000246949
InnateDB Gene IDBG-236686 (DNASE1)
Protein Structure
UniProt Annotation
Function Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization (By similarity). {ECO:0000250}.
Subcellular Localization Secreted. Nucleus envelope. Note=Secretory protein, stored in zymogen granules and found in the nuclear envelope.
Disease Associations Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269PubMed:11479590}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity Principally in tissues of the digestive system. Highest levels found in urine, but also relatively abundant in semen and saliva.
Comments
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
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
Protein Structure and Domains
PDB ID
InterPro IPR005135 Endonuclease/exonuclease/phosphatase
IPR016202 Deoxyribonuclease I
PFAM PF03372
PF14529
PRINTS PR00130
PIRSF PIRSF000988
SMART SM00476
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P24855
PhosphoSite PhosphoSite-P24855
TrEMBL
UniProt Splice Variant
Entrez Gene 1773
UniGene Hs.733045
RefSeq NP_005214
HUGO HGNC:2956
OMIM 125505
CCDS CCDS10507
HPRD 00509
IMGT
EMBL AB188151 AB188152 AC005203 AJ298844 BC029437 CH471112 D83195 M55983
GenPept AAA63170 AAC24721 AAH29437 BAA11841 BAE96964 BAE96965 CAC12813 EAW85344