Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DNASE1 Gene

Aliases for DNASE1 Gene

  • Deoxyribonuclease I 2 3 4 5
  • Dornase Alfa 3 4
  • EC 3.1.21.1 4 63
  • DNL1 3 4
  • DRNI 3 4
  • Human Urine Deoxyribonuclease I 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 I) is a Protein Coding gene. Diseases associated with DNASE1 include systemic lupus erythematosus and dnase1-related susceptibility to systemic lupus erythematosus. GO annotations related to this gene include actin binding and deoxyribonuclease activity. An important paralog of this gene is DNASE1L1.

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

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

Genomics for DNASE1 Gene

Regulatory Elements for DNASE1 Gene

Promoters for DNASE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNASE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNASE1 Gene

Chromosome:
16
Start:
3,611,728 bp from pter
End:
3,680,143 bp from pter
Size:
68,416 bases
Orientation:
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:
    P24855-DNAS1_HUMAN
    Recommended name:
    Deoxyribonuclease-1
    Protein Accession:
    P24855
    Secondary Accessions:
    • B4DV35
    • Q14UU9
    • Q14UV0

    Protein attributes for DNASE1 Gene

    Size:
    282 amino acids
    Molecular mass:
    31434 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for DNASE1 Gene

Proteomics data for DNASE1 Gene at MOPED

Selected DME Specific Peptides for DNASE1 Gene

Post-translational modifications for DNASE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for DNASE1 Gene

Protein Domains for DNASE1 Gene

Graphical View of Domain Structure for InterPro Entry

P24855

UniProtKB/Swiss-Prot:

DNAS1_HUMAN :
  • Belongs to the DNase I family.
Family:
  • Belongs to the DNase I family.
genes like me logo Genes that share domains with DNASE1: view

No data available for Gene Families for DNASE1 Gene

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

Gene Ontology (GO) - Molecular Function for DNASE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004530 deoxyribonuclease I activity IEA --
GO:0016888 endodeoxyribonuclease activity, producing 5-phosphomonoesters 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

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

COMPARTMENTS
Jensen Localization Image for DNASE1 Gene COMPARTMENTS Subcellular localization image for DNASE1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DNASE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IEA --
genes like me logo Genes that share ontologies with DNASE1: view

Pathways & Interactions for DNASE1 Gene

SuperPathways for DNASE1 Gene

No Data Available

Interacting Proteins for DNASE1 Gene

Gene Ontology (GO) - Biological Process for DNASE1 Gene

None

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

Drugs & Compounds for DNASE1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
Magnesium Nutra 0

(80) Additional Compounds for DNASE1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
genes like me logo Genes that share compounds with DNASE1: view

Transcripts for DNASE1 Gene

Unigene Clusters for DNASE1 Gene

Deoxyribonuclease I:
Representative Sequences:

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

No ASD Table

Relevant External Links for DNASE1 Gene

GeneLoc Exon Structure for
DNASE1
ECgene alternative splicing isoforms for
DNASE1

Expression for DNASE1 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for DNASE1 Gene Hs.629638

mRNA Expression by UniProt/SwissProt for DNASE1 Gene

P24855-DNAS1_HUMAN
Tissue specificity: Principally in tissues of the digestive system. Highest levels found in urine, but also relatively abundant in semen and saliva.
genes like me logo Genes that share expression patterns with DNASE1: view

Protein tissue co-expression partners for DNASE1 Gene

Primer Products

In Situ Assay Products

Orthologs for DNASE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DNASE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNASE1 35
  • 99.17 (n)
  • 98.58 (a)
DNASE1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNASE1 36
  • 69 (a)
OneToOne
DNASE1 35
  • 80.9 (n)
  • 77.22 (a)
dog
(Canis familiaris)
Mammalia DNASE1 35
  • 81.68 (n)
  • 81.56 (a)
DNASE1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnase1 16
Dnase1 36
  • 79 (a)
OneToOne
Dnase1 35
  • 78.67 (n)
  • 81.61 (a)
oppossum
(Monodelphis domestica)
Mammalia DNASE1 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNASE1 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnase1 35
  • 78.54 (n)
  • 79.69 (a)
chicken
(Gallus gallus)
Aves DNASE1 35
  • 65.26 (n)
  • 58.24 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 60 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493098 35
  • 58.33 (n)
  • 53.46 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6076 35
zebrafish
(Danio rerio)
Actinopterygii dnase1 36
  • 55 (a)
OneToMany
dnase1 35
  • 62.02 (n)
  • 59.3 (a)
Dr.19519 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
ManyToMany
-- 36
  • 44 (a)
ManyToMany
-- 36
  • 39 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
Species with no ortholog for DNASE1:
  • 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

ENSEMBL:
Gene Tree for DNASE1 (if available)
TreeFam:
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

P24855-DNAS1_HUMAN
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 Sequence Context AA Info Type
VAR_002264 -
VAR_002265 -
VAR_002266 -
VAR_009300 -
VAR_009301 -

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

Variant ID Type Subtype PubMed ID
nsv905213 CNV Loss 21882294
nsv833128 CNV Loss 17160897
nsv905216 CNV Loss 21882294
nsv518509 CNV Gain 19592680
esv2659167 CNV Deletion 23128226
nsv457359 CNV Loss 19166990
esv2750413 CNV Deletion 23290073
esv2750414 CNV Deletion 23290073
esv2750415 CNV Deletion 23290073
esv2750416 CNV Deletion 23290073
nsv525301 CNV Loss 19592680

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)

Relevant External Links for DNASE1 Gene

HapMap Linkage Disequilibrium report
DNASE1
Human Gene Mutation Database (HGMD)
DNASE1

Disorders for DNASE1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for DNASE1 Gene - From: OMIM, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
systemic lupus erythematosus
  • lupus nephritis
dnase1-related susceptibility to systemic lupus erythematosus
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
lupus erythematosus
  • lupus
laryngeal disease
  • laryngeal diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DNAS1_HUMAN
  • 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.

Relevant External Links for DNASE1

Genetic Association Database (GAD)
DNASE1
Human Genome Epidemiology (HuGE) Navigator
DNASE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNASE1
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. (Int. J. Immunogenet. 2010) 3 23 48 67
  2. A biochemical and genetic study on all non-synonymous single nucleotide polymorphisms of the gene encoding human deoxyribonuclease I potentially relevant to autoimmunity. (PMID: 20417303) Yasuda T. … Panduro A. (Int. J. Biochem. Cell Biol. 2010) 3 23
  3. Gln222Arg (A2317G) polymorphism in the deoxyribonuclease I gene exhibits ethnic and functional differences. (PMID: 19055475) Takeshita H. … Fujihara J. (Clin. Chem. Lab. Med. 2009) 3 23
  4. A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity. (PMID: 19022625) Dittmar M. … Kahaly G.J. (J. Autoimmun. 2009) 3 23
  5. Serum DNase I, soluble Fas/FasL levels and cell surface Fas expression in patients with SLE: a possible explanation for the lack of efficacy of hrDNase I treatment. (PMID: 19181929) Tinazzi E. … Lunardi C. (Int. Immunol. 2009) 3 23

Products for DNASE1 Gene

Sources for DNASE1 Gene

Back to Top

Content