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Aliases for DNASE1 Gene

Aliases for DNASE1 Gene

  • Deoxyribonuclease I 2 3 4
  • DNL1 3 4 6
  • Dornase Alfa 3 4
  • EC 3.1.21.1 4 63
  • 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 I) is a Protein Coding gene. Diseases associated with DNASE1 include dnase1-related susceptibility to systemic lupus erythematosus and systemic lupus erythematosus. GO annotations related to this gene include actin binding and deoxyribonuclease I 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

Genomic Location for DNASE1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Divalent metal cations. Prefers Ca(2+) or Mg(2+).;
    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

  • Glycosylation at Asn40 and Asn128
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains for DNASE1 Gene

Protein Domains for DNASE1 Gene

Graphical View of Domain Structure for InterPro Entry

P24855

UniProtKB/Swiss-Prot:

DNAS1_HUMAN :
  • P24855
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:0003779 actin binding IEA --
GO:0004520 endodeoxyribonuclease activity IBA --
GO:0004530 deoxyribonuclease I activity IEA --
GO:0004536 deoxyribonuclease activity --
GO:0005515 protein binding IPI 12849983
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNASE1

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting 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

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 23376485
genes like me logo Genes that share ontologies with DNASE1: view

Pathways for DNASE1 Gene

SuperPathways for DNASE1 Gene

No Data Available

Interacting Proteins for DNASE1 Gene

Gene Ontology (GO) - Biological Process for DNASE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000737 DNA catabolic process, endonucleolytic IBA --
GO:0006308 DNA catabolic process --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with DNASE1: view

No data available for Pathways by source for DNASE1 Gene

Compounds for DNASE1 Gene

UniProtKB/Swiss-Prot:

P24855-DNAS1_HUMAN
Pharmaceutical: Available under the name Pulmozyme (Genentech). Used to reduce the viscosity of cystic fibrosis sputum by hydrolyzing the extracellular DNA released by degenerating leukocytes that accumulate in response to infection

(2) HMDB Compounds for DNASE1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4

(1) Drugbank Compounds for DNASE1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-D-Mannose
3458-28-4 target

(121) Novoseek inferred chemical compound relationships for DNASE1 Gene

Compound -log(P) Hits PubMed IDs
dimethyl sulfate 79.4 29
bepi 70.5 2
n-methylpyrrole 68.1 3
dhs1 65.6 2
chloramphenicol 63.8 2
genes like me logo Genes that share compounds with DNASE1: view

Transcripts for DNASE1 Gene

Unigene Clusters for DNASE1 Gene

Deoxyribonuclease I:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNASE1

Primer Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for DNASE1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (5.8) and Pancreas (4.3).

Protein differential expression in normal tissues for DNASE1 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB 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 expressions with DNASE1: view

Expression partners for DNASE1 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia DNASE1 35
  • 80.9 (n)
  • 77.22 (a)
DNASE1 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNASE1 35
  • 81.68 (n)
  • 81.56 (a)
DNASE1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnase1 35
  • 78.67 (n)
  • 81.61 (a)
Dnase1 16
Dnase1 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNASE1 35
  • 99.17 (n)
  • 98.58 (a)
DNASE1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnase1 35
  • 78.54 (n)
  • 79.69 (a)
oppossum
(Monodelphis domestica)
Mammalia DNASE1 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNASE1 36
  • 63 (a)
OneToOne
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)
zebrafish
(Danio rerio)
Actinopterygii dnase1 35
  • 62.02 (n)
  • 59.3 (a)
Dr.19519 35
dnase1 36
  • 55 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6076 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 MAF
rs735830 -- 3,645,353(+) ATTGC(A/G)ACCCT intron-variant
rs740862 -- 3,639,677(+) ttgtt(G/T)aagct upstream-variant-2KB
rs758745 -- 3,656,336(+) GGTCC(C/T)GGACC intron-variant
rs1133037 -- 3,656,132(+) GTGGT(C/G)AGTGA reference, synonymous-codon, stop-gained, nc-transcript-variant
rs1139162 -- 3,653,731(+) gaacc(C/T)aggaa utr-variant-5-prime, upstream-variant-2KB, intron-variant

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

Relevant External Links for DNASE1 Gene

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

Disorders for DNASE1 Gene

(1) OMIM Diseases for DNASE1 Gene (125505)

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.

(3) University of Copenhagen DISEASES for DNASE1 Gene

(64) Novoseek inferred disease relationships for DNASE1 Gene

Disease -log(P) Hits PubMed IDs
erythroleukemia 59.1 6
cystic fibrosis 51.9 43
choriocarcinoma 33.1 1
carcinoma embryonal 26.3 1
lupus erythematosus systemic 24.1 10

Relevant External Links for DNASE1

Genetic Association Database (GAD)
DNASE1
Human Genome Epidemiology (HuGE) Navigator
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. The fifth allele of the human deoxyribonuclease I (DNase I) polymorphism. (PMID: 9420147) Iida R. … Kishi K. (Electrophoresis 1997) 3 4 23
  2. Human genetically polymorphic deoxyribonuclease: purification, characterization, and multiplicity of urine deoxyribonuclease I. (PMID: 2277032) Yasuda T. … Kishi K. (J. Biochem. 1990) 3 4 23
  3. Structure of the human deoxyribonuclease I (DNase I) gene: identification of the nucleotide substitution that generates its classical genetic polymorphism. (PMID: 7762978) Yasuda T. … Yoshida A. (Ann. Hum. Genet. 1995) 3 4 23
  4. DNase I mediates internucleosomal DNA degradation in human cells undergoing drug-induced apoptosis. (PMID: 11241278) Oliveri M. … Puccetti A. (Eur. J. Immunol. 2001) 3 4 23
  5. Mutation of DNASE1 in people with systemic lupus erythematosus. (PMID: 11479590) Yasutomo K. … Kuroda Y. (Nat. Genet. 2001) 3 4 23

Products for DNASE1 Gene

Sources for DNASE1 Gene

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