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Aliases for DNASE1 Gene

Aliases for DNASE1 Gene

  • Deoxyribonuclease 1 2 3 5
  • Deoxyribonuclease I 2 3 4
  • Dornase Alfa 3 4
  • EC 4 56
  • DNL1 3 4
  • DRNI 3 4
  • Human Urine Deoxyribonuclease I 3
  • Deoxyribonuclease-1 3
  • DNase I, Lysosomal 3
  • DNase I 4

External Ids for DNASE1 Gene

Previous HGNC Symbols for DNASE1 Gene

  • DNL1

Previous GeneCards Identifiers for DNASE1 Gene

  • GC16P003733
  • GC16P003704
  • GC16P003630
  • GC16P003692
  • GC16P003663

Summaries for DNASE1 Gene

Entrez Gene Summary for DNASE1 Gene

  • 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]

GeneCards Summary for DNASE1 Gene

DNASE1 (Deoxyribonuclease 1) is a Protein Coding gene. Diseases associated with DNASE1 include Systemic Lupus Erythematosus and Systemic Lupus Erythematosus 16. Gene Ontology (GO) annotations related to this gene include actin binding and deoxyribonuclease activity. An important paralog of this gene is DNASE1L2.

UniProtKB/Swiss-Prot for DNASE1 Gene

  • Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization (By similarity).

Gene Wiki entry for DNASE1 Gene

Additional gene information for DNASE1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNASE1 Gene

Genomics for DNASE1 Gene

GeneHancer (GH) Regulatory Elements for DNASE1 Gene

Promoters and enhancers for DNASE1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I003609 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 560 -0.2 -231 3.8 HDGF FOXA2 ARID4B SIN3A DMAP1 ZBTB7B SLC30A9 POLR2B ZNF207 ZNF143 DNASE1 SLX4 CLUAP1 NLRC3 TRAP1 GC16M003603
GH16I003653 Promoter/Enhancer 1.6 EPDnew ENCODE dbSUPER 563.1 +44.3 44288 4.5 ELF3 HDGF PKNOX1 RB1 ARID4B ZNF48 RAD21 GLIS2 ZNF143 FOS DNASE1 PIR61504 PIR45521 PIR40816 GC16P003654 CLUAP1 ENSG00000263235 TRAP1
GH16I003644 Enhancer 1.3 Ensembl ENCODE dbSUPER 13 +34.8 34753 3.5 PKNOX1 CLOCK FOXA2 NEUROD1 SIN3A FOS DEK SP5 MIER3 SMARCA4 NLRC3 CLUAP1 SRRM2 DNASE1 CREBBP ZNF263 THOC6 ENSG00000261938 ZNF597 ERVK13-1
GH16I003694 Enhancer 1.2 Ensembl ENCODE 14 +84.5 84462 3.1 FOXA2 MLX ARNT ARID4B DMAP1 YY1 SLC30A9 SP5 ZHX2 MXD4 TRAP1 CLUAP1 DNASE1 VASN LOC105371058 PIR47361
GH16I003636 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.7 +28.6 28591 6.8 FOXA2 ARID4B FOS ATF7 RUNX3 SP5 ZNF592 ZNF585B SMARCA4 RCOR2 PIR33321 CLUAP1 ZNF75A TIGD7 ZNF213-AS1 TRAP1 ZSCAN32 ZNF174 FLYWCH2 MTND1P8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNASE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNASE1 gene promoter:

Genomic Locations for DNASE1 Gene

Genomic Locations for DNASE1 Gene
68,416 bases
Plus strand

Genomic View for DNASE1 Gene

Genes around DNASE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNASE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNASE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNASE1 Gene

Proteins for DNASE1 Gene

  • Protein details for DNASE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B4DV35
    • Q14UU9
    • Q14UV0

    Protein attributes for DNASE1 Gene

    282 amino acids
    Molecular mass:
    31434 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DNASE1 Gene

    Alternative splice isoforms for DNASE1 Gene


neXtProt entry for DNASE1 Gene

Selected DME Specific Peptides for DNASE1 Gene


Post-translational modifications for DNASE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DNASE1 Gene

Gene Families for DNASE1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DNase I family.
  • Belongs to the DNase I family.
genes like me logo Genes that share domains with DNASE1: view

Function for DNASE1 Gene

Molecular function for DNASE1 Gene

GENATLAS Biochemistry:
deoxyribonuclease I,involved in nuclear DNA degradation during apoptosis
UniProtKB/Swiss-Prot CatalyticActivity:
Endonucleolytic cleavage to 5-phosphodinucleotide and 5-phosphooligonucleotide end-products.
UniProtKB/Swiss-Prot Function:
Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization (By similarity).

Enzyme Numbers (IUBMB) for DNASE1 Gene

Phenotypes From GWAS Catalog for DNASE1 Gene

Gene Ontology (GO) - Molecular Function for DNASE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004530 deoxyribonuclease I activity IEA --
GO:0004536 deoxyribonuclease activity IEA --
genes like me logo Genes that share ontologies with DNASE1: view
genes like me logo Genes that share phenotypes with DNASE1: view

Animal Models for DNASE1 Gene

MGI Knock Outs for DNASE1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DNASE1 Gene

Localization for DNASE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNASE1 Gene

Secreted. Nucleus envelope. Note=Secretory protein, stored in zymogen granules and found in the nuclear envelope.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNASE1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNASE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 2349940
GO:0005634 nucleus IBA --
GO:0005635 nuclear envelope IEA --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with DNASE1: view

Pathways & Interactions for DNASE1 Gene

SuperPathways for DNASE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNASE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000737 DNA catabolic process, endonucleolytic ISS 29191910
GO:0002283 neutrophil activation involved in immune response ISS 29191910
GO:0002673 regulation of acute inflammatory response ISS 29191910
GO:0006308 DNA catabolic process IEA --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with DNASE1: view

No data available for Pathways by source and SIGNOR curated interactions for DNASE1 Gene

Drugs & Compounds for DNASE1 Gene

(52) Drugs for DNASE1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Magnesium Approved Nutra 0
mannose Investigational Pharma 0

(72) Additional Compounds for DNASE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DNASE1: view

Transcripts for DNASE1 Gene

Unigene Clusters for DNASE1 Gene

Deoxyribonuclease I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNASE1 Gene

No ASD Table

Relevant External Links for DNASE1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DNASE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNASE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNASE1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x5.8) and Pancreas (x4.3).

Protein differential expression in normal tissues from HIPED for DNASE1 Gene

This gene is overexpressed in Urine (59.0) and Pancreatic juice (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNASE1 Gene

Protein tissue co-expression partners for DNASE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNASE1 Gene:


SOURCE GeneReport for Unigene cluster for DNASE1 Gene:


mRNA Expression by UniProt/SwissProt for DNASE1 Gene:

Tissue specificity: Principally in tissues of the digestive system. Highest levels found in urine, but also relatively abundant in semen and saliva.

Evidence on tissue expression from TISSUES for DNASE1 Gene

  • Kidney(4.4)
  • Pancreas(4.4)
  • Intestine(4.2)
  • Urine(4)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with DNASE1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DNASE1 Gene

Orthologs for DNASE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DNASE1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DNASE1 33 34
  • 99.17 (n)
(Canis familiaris)
Mammalia DNASE1 33 34
  • 81.68 (n)
(Bos Taurus)
Mammalia DNASE1 33 34
  • 80.9 (n)
(Mus musculus)
Mammalia Dnase1 33 16 34
  • 78.67 (n)
(Rattus norvegicus)
Mammalia Dnase1 33
  • 78.54 (n)
(Ornithorhynchus anatinus)
Mammalia DNASE1 34
  • 63 (a)
(Monodelphis domestica)
Mammalia DNASE1 34
  • 60 (a)
(Gallus gallus)
Aves DNASE1 33
  • 65.26 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493098 33
  • 58.33 (n)
(Danio rerio)
Actinopterygii dnase1 33 34
  • 62.02 (n)
Dr.19519 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6076 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
-- 34
  • 39 (a)
-- 34
  • 29 (a)
-- 34
  • 29 (a)
Species where no ortholog for DNASE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNASE1 Gene

Gene Tree for DNASE1 (if available)
Gene Tree for DNASE1 (if available)

Paralogs for DNASE1 Gene

Paralogs for DNASE1 Gene

genes like me logo Genes that share paralogs with DNASE1: view

Variants for DNASE1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DNASE1 Gene

At least 6 alleles of DNASE1 are known: DNASE1*1 to DNASE1*6. The sequence shown is that of DNASE1*2.

Sequence variations from dbSNP and Humsavar for DNASE1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1004472564 uncertain-significance, Fanconi anemia 3,611,552(+) C/G/T upstream_transcript_variant
rs1053874 risk-factor, Systemic lupus erythematosus, susceptibility to 3,657,746(+) G/A/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121912990 risk-factor, Systemic lupus erythematosus, susceptibility to 3,655,386(+) A/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained, upstream_transcript_variant
rs886051988 uncertain-significance, Fanconi anemia 3,611,573(+) G/A upstream_transcript_variant
rs148373909 uncertain-significance, not specified 3,657,256(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DNASE1 Gene

Variant ID Type Subtype PubMed ID
dgv4876n54 CNV loss 21841781
esv2659167 CNV deletion 23128226
esv2750413 CNV deletion 23290073
esv2750414 CNV deletion 23290073
esv2750415 CNV deletion 23290073
esv2750416 CNV deletion 23290073
esv2761892 CNV loss 21179565
esv3637673 CNV loss 21293372
nsv1051657 CNV gain 25217958
nsv457359 CNV loss 19166990
nsv518509 CNV gain 19592680
nsv525301 CNV loss 19592680
nsv833128 CNV loss 17160897

Variation tolerance for DNASE1 Gene

Residual Variation Intolerance Score: 98.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.67; 89.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNASE1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for DNASE1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DNASE1 Gene - From: HGMD, OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
systemic lupus erythematosus
  • sle
systemic lupus erythematosus 16
  • sleb16
cystic fibrosis
  • cf
lupus erythematosus
  • systemic lupus erythematosus
laryngeal disease
  • laryngeal diseases
- elite association - COSMIC cancer census association via MalaCards


  • 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:0000269 PubMed:11479590}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for DNASE1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DNASE1: view

No data available for Genatlas for DNASE1 Gene

Publications for DNASE1 Gene

  1. Molecular analysis of HumDN1 VNTR polymorphism of the human deoxyribonuclease I in systemic lupus erythematosus. (PMID: 19863681) AlFadhli S … Rebai A (International journal of immunogenetics 2010) 3 22 44 58
  2. A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity. (PMID: 19022625) Dittmar M … Kahaly GJ (Journal of autoimmunity 2009) 3 22 44 58
  3. Gln222Arg (A2317G) polymorphism in the deoxyribonuclease I gene exhibits ethnic and functional differences. (PMID: 19055475) Takeshita H … Fujihara J (Clinical chemistry and laboratory medicine 2009) 3 22 44 58
  4. Characterization of human deoxyribonuclease I gene (DNASE1) promoters reveals the utilization of two transcription-starting exons and the involvement of Sp1 in its transcriptional regulation. (PMID: 16771825) Kominato Y … Yasuda T (The FEBS journal 2006) 3 4 22 58
  5. Analysis of genetic polymorphism of deoxyribonuclease I in Ovambo and Turk populations using a genotyping method. (PMID: 16382368) Fujihara J … Takeshita H (Biochemical genetics 2005) 3 22 44 58

Products for DNASE1 Gene

Sources for DNASE1 Gene

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