Details for: DNASE1

Gene ID: 1773

Symbol: DNASE1

Ensembl ID: ENSG00000213918

Description: deoxyribonuclease 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 156.6104
    Cell Significance Index: -24.3600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 90.3237
    Cell Significance Index: -22.9100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 52.8975
    Cell Significance Index: -21.4900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 52.1369
    Cell Significance Index: -24.6200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 22.5610
    Cell Significance Index: -21.5400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 19.8142
    Cell Significance Index: -24.4300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.9366
    Cell Significance Index: -23.9400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.1834
    Cell Significance Index: -17.9100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.5490
    Cell Significance Index: -20.1200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.2455
    Cell Significance Index: -24.6500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.3311
    Cell Significance Index: 105.6600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.6342
    Cell Significance Index: 324.3200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.5445
    Cell Significance Index: 1394.6100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.5306
    Cell Significance Index: 166.4800
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.4634
    Cell Significance Index: 12.9900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.2341
    Cell Significance Index: 34.4900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.0572
    Cell Significance Index: 30.4600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9910
    Cell Significance Index: 21.4700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9581
    Cell Significance Index: 192.1900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9244
    Cell Significance Index: 51.8700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9092
    Cell Significance Index: 62.8800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.8229
    Cell Significance Index: 20.5700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7508
    Cell Significance Index: 122.1200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.6141
    Cell Significance Index: 21.5800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5586
    Cell Significance Index: 24.7100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5391
    Cell Significance Index: 193.3700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5313
    Cell Significance Index: 20.1200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5300
    Cell Significance Index: 40.6800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.5257
    Cell Significance Index: 10.2600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.5055
    Cell Significance Index: 6.2700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4957
    Cell Significance Index: 58.4600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.4954
    Cell Significance Index: 8.4900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3962
    Cell Significance Index: 10.6200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3739
    Cell Significance Index: 22.9800
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.3712
    Cell Significance Index: 2.2900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3360
    Cell Significance Index: 60.5700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3043
    Cell Significance Index: 19.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2982
    Cell Significance Index: 20.0500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.2529
    Cell Significance Index: 185.3900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2342
    Cell Significance Index: 161.9500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2221
    Cell Significance Index: 21.9700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2118
    Cell Significance Index: 40.3100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2001
    Cell Significance Index: 4.8000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1695
    Cell Significance Index: 20.8400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1495
    Cell Significance Index: 275.7600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1179
    Cell Significance Index: 16.1900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1142
    Cell Significance Index: 62.3900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1113
    Cell Significance Index: 171.3100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.1038
    Cell Significance Index: 1.0800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0989
    Cell Significance Index: 5.9400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0945
    Cell Significance Index: 1.2900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0932
    Cell Significance Index: 4.8400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0817
    Cell Significance Index: 4.2900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0816
    Cell Significance Index: 153.5800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0762
    Cell Significance Index: 13.0100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0651
    Cell Significance Index: 0.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0602
    Cell Significance Index: 81.8500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0361
    Cell Significance Index: 22.9500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0298
    Cell Significance Index: 13.1800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0273
    Cell Significance Index: 12.3800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0251
    Cell Significance Index: 0.5500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0100
    Cell Significance Index: 1.2800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0166
    Cell Significance Index: -2.4100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0178
    Cell Significance Index: -0.3800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0267
    Cell Significance Index: -19.7700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0309
    Cell Significance Index: -23.3900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.0322
    Cell Significance Index: -0.4000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0411
    Cell Significance Index: -23.1700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0420
    Cell Significance Index: -26.2400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0556
    Cell Significance Index: -0.9300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0566
    Cell Significance Index: -1.5100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0730
    Cell Significance Index: -20.9900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0844
    Cell Significance Index: -5.3200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0872
    Cell Significance Index: -10.1700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0877
    Cell Significance Index: -4.0900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0978
    Cell Significance Index: -2.7900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1121
    Cell Significance Index: -11.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1193
    Cell Significance Index: -25.1300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1333
    Cell Significance Index: -17.2200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1401
    Cell Significance Index: -16.0500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1666
    Cell Significance Index: -2.4600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1668
    Cell Significance Index: -13.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1738
    Cell Significance Index: -18.1000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1789
    Cell Significance Index: -8.4100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1977
    Cell Significance Index: -13.9800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2061
    Cell Significance Index: -5.6100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2087
    Cell Significance Index: -3.5200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2125
    Cell Significance Index: -15.8400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2458
    Cell Significance Index: -2.9300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2763
    Cell Significance Index: -8.8500
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.2775
    Cell Significance Index: -3.9900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3068
    Cell Significance Index: -18.8100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3124
    Cell Significance Index: -7.9800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3401
    Cell Significance Index: -4.8700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3456
    Cell Significance Index: -12.0100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3617
    Cell Significance Index: -18.8400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3680
    Cell Significance Index: -11.7200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3771
    Cell Significance Index: -12.3500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3867
    Cell Significance Index: -9.9400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.4030
    Cell Significance Index: -5.0300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Cellular Expression:** DNASE1 is highly expressed in epithelial cells of the kidney, colon, and lens, as well as in neurons of the cerebral cortex. 2. **Enzymatic Activity:** DNASE1 exhibits deoxyribonuclease activity, specifically targeting double-stranded DNA. 3. **Regulation of Immune Responses:** DNASE1 has been shown to modulate neutrophil activation and the regulation of acute inflammatory responses. 4. **Zymogen Granule Release:** DNASE1 is involved in the regulation of zymogen granule release, which is a critical process in the immune response. 5. **DNA Degradation:** DNASE1 plays a key role in maintaining genome stability by degrading excess DNA. **Pathways and Functions:** 1. **Apoptotic Process:** DNASE1 has been implicated in the regulation of the apoptotic process, which is crucial for maintaining genome stability. 2. **Neutrophil Activation:** DNASE1 modulates neutrophil activation, which is essential for the proper functioning of the immune system. 3. **Regulation of Acute Inflammatory Response:** DNASE1 regulates the acute inflammatory response, which is critical for the resolution of inflammation. 4. **Extracellular Exosome:** DNASE1 is involved in the regulation of extracellular exosome release, which is a key process in cellular communication. 5. **Protein Binding:** DNASE1 exhibits protein-binding activity, which is essential for its role in regulating immune responses. **Clinical Significance:** DNASE1 has been implicated in various diseases, including: 1. **Neurodegenerative Disorders:** DNASE1 has been shown to play a role in the regulation of neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 2. **Inflammatory Disorders:** DNASE1 has been implicated in the regulation of inflammatory disorders, such as rheumatoid arthritis and atherosclerosis. 3. **Cancer:** DNASE1 has been shown to play a role in cancer development and progression, particularly in the regulation of DNA degradation and genome stability. In conclusion, DNASE1 is a multifunctional enzyme that plays a critical role in regulating immune responses, cellular homeostasis, and genome stability. Further research is necessary to fully elucidate the mechanisms by which DNASE1 regulates these processes and to explore its potential therapeutic applications in various diseases.

Genular Protein ID: 2400991122

Symbol: DNAS1_HUMAN

Name: Deoxyribonuclease-1

UniProtKB Accession Codes:

P24855 B4DV35 Q14UU9 Q14UV0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 2 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 Ensembl 2 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 RefSeq 7 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2251263

Title: Recombinant human DNase I reduces the viscosity of cystic fibrosis sputum.

PubMed ID: 2251263

DOI: 10.1073/pnas.87.23.9188

PubMed ID: 7762978

Title: Structure of the human deoxyribonuclease I (DNase I) gene: identification of the nucleotide substitution that generates its classical genetic polymorphism.

PubMed ID: 7762978

DOI: 10.1111/j.1469-1809.1995.tb01601.x

PubMed ID: 11241278

Title: DNase I mediates internucleosomal DNA degradation in human cells undergoing drug-induced apoptosis.

PubMed ID: 11241278

DOI: 10.1002/1521-4141(200103)31:3<743::aid-immu743>3.0.co;2-9

PubMed ID: 16771825

Title: 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.

PubMed ID: 16771825

DOI: 10.1111/j.1742-4658.2006.05320.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3263467

Title: A human urine-derived interleukin 1 inhibitor. Homology with deoxyribonuclease I.

PubMed ID: 3263467

DOI: 10.1084/jem.168.5.1767

PubMed ID: 2277032

Title: Human genetically polymorphic deoxyribonuclease: purification, characterization, and multiplicity of urine deoxyribonuclease I.

PubMed ID: 2277032

DOI: 10.1093/oxfordjournals.jbchem.a123212

PubMed ID: 11479590

Title: Mutation of DNASE1 in people with systemic lupus erythematosus.

PubMed ID: 11479590

DOI: 10.1038/91070

PubMed ID: 20439745

Title: Impairment of neutrophil extracellular trap degradation is associated with lupus nephritis.

PubMed ID: 20439745

DOI: 10.1073/pnas.0909927107

PubMed ID: 7625762

Title: Molecular analysis of the third allele of human deoxyribonuclease I polymorphism.

PubMed ID: 7625762

DOI: 10.1111/j.1469-1809.1995.tb00737.x

PubMed ID: 7867802

Title: The molecular basis for genetic polymorphism of human deoxyribonuclease I: identification of the nucleotide substitution that generates the fourth allele.

PubMed ID: 7867802

DOI: 10.1016/0014-5793(95)00037-a

PubMed ID: 9420147

Title: The fifth allele of the human deoxyribonuclease I (DNase I) polymorphism.

PubMed ID: 9420147

DOI: 10.1002/elps.1150181108

PubMed ID: 10381379

Title: A new allele, DNASE1*6, of human deoxyribonuclease I polymorphism encodes an Arg to Cys substitution responsible for its instability.

PubMed ID: 10381379

DOI: 10.1006/bbrc.1999.0900

Sequence Information:

  • Length: 282
  • Mass: 31434
  • Checksum: 040042E2D23555B6
  • Sequence:
    • MRGMKLLGAL LALAALLQGA VSLKIAAFNI QTFGETKMSN ATLVSYIVQI LSRYDIALVQ 
EVRDSHLTAV GKLLDNLNQD APDTYHYVVS EPLGRNSYKE RYLFVYRPDQ VSAVDSYYYD 
DGCEPCGNDT FNREPAIVRF FSRFTEVREF AIVPLHAAPG DAVAEIDALY DVYLDVQEKW 
GLEDVMLMGD FNAGCSYVRP SQWSSIRLWT SPTFQWLIPD SADTTATPTH CAYDRIVVAG 
MLLRGAVVPD SALPFNFQAA YGLSDQLAQA ISDHYPVEVM LK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.