Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	1773
Gene name	Deoxyribonuclease 1
Gene symbol	DNASE1
Synonyms (NCBI Gene)	DNL1DRNI
Chromosome	16
Chromosome location	16p13.3
Summary	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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912990	A>T	Risk-factor	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, stop gained

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments
MIRT1978908	hsa-miR-3119	CLIP-seq
MIRT1978909	hsa-miR-4699-3p	CLIP-seq
MIRT2387030	hsa-miR-1914	CLIP-seq
MIRT1978908	hsa-miR-3119	CLIP-seq
MIRT2387031	hsa-miR-3688-5p	CLIP-seq
MIRT2387032	hsa-miR-4314	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
RUNX3	Activation	17956589

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002283	Process	Neutrophil activation involved in immune response	IEA
GO:0002283	Process	Neutrophil activation involved in immune response	ISS	29191910
GO:0002673	Process	Regulation of acute inflammatory response	IEA
GO:0002673	Process	Regulation of acute inflammatory response	ISS	29191910
GO:0003677	Function	DNA binding	IBA
GO:0003779	Function	Actin binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004530	Function	Deoxyribonuclease I activity	IBA
GO:0004530	Function	Deoxyribonuclease I activity	IEA
GO:0004536	Function	DNA nuclease activity	IEA
GO:0005515	Function	Protein binding	IPI	12849983
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	2349940
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0006308	Process	DNA catabolic process	IBA
GO:0006308	Process	DNA catabolic process	IEA
GO:0006308	Process	DNA catabolic process	ISS	29191910
GO:0006915	Process	Apoptotic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042588	Component	Zymogen granule	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070948	Process	Regulation of neutrophil mediated cytotoxicity	IEA
GO:0070948	Process	Regulation of neutrophil mediated cytotoxicity	ISS	29191910

MIM	HGNC	e!Ensembl
125505	2956	ENSG00000213918

P24855

Protein name

Deoxyribonuclease-1 (EC 3.1.21.1) (Deoxyribonuclease I) (DNase I) (Dornase alfa)

Protein function

Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs (PubMed:11241278, PubMed:2251263, PubMed:2277032). Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA (By similarity)

PDB

4AWN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03372	Exo_endo_phos	26 → 274	Endonuclease/Exonuclease/phosphatase family	Domain

Tissue specificity

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

Sequence

MRGMKLLGALLALAALLQGAVSLKIAAFNIQTFGETKMSNATLVSYIVQILSRYDIALVQ
EVRDSHLTAVGKLLDNLNQDAPDTYHYVVSEPLGRNSYKERYLFVYRPDQVSAVDSYYYD
DGCEPCGNDTFNREPAIVRFFSRFTEVREFAIVPLHAAPGDAVAEIDALYDVYLDVQEKW
GLEDVMLMGDFNAGCSYVRPSQWSSIRLWTSPTFQWLIPDSADTTATPTHCAYDRIVVAG
MLLRGAVVPDSALPFNFQAAYGLSDQLAQAISDHYPVEVMLK

Sequence length

282

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Systemic lupus erythematosus	Likely pathogenic	rs77254040	RCV003993631

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Conflicting classifications of pathogenicity	rs8176928	RCV005929405
DNASE1-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs147763166, rs74892550, rs1053874, rs34186031, rs8176938, rs1799891, rs59621760, rs557122880, rs144058317, rs780408465, rs201975812	RCV003929068 RCV003921399 RCV003974840 RCV003907235 RCV003979676 RCV003912200 RCV003929466 RCV003939791 RCV003958932 RCV003952261 RCV003955877
Gastric cancer	Conflicting classifications of pathogenicity	rs8176928	RCV005929406
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs8175352	RCV005922307
Systemic lupus erythematosus, susceptibility to	risk factor; Benign	rs121912990, rs1053874	RCV000018345 RCV000018346
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs8176928	RCV005929407
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs8176928	RCV005929408

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Rheumatoid	Associate	36724178
Cystic Disease Of Lung	Associate	33802146
Cystic Fibrosis	Associate	2251263, 33802146
Diabetes Mellitus	Associate	27082840
Diabetes Mellitus Type 2	Associate	25578432, 27082840
Dry Eye Syndromes	Associate	26393465
Exocrine Pancreatic Insufficiency	Associate	25578432
Inflammation	Inhibit	36724178
Lupus Erythematosus Systemic	Associate	30707351, 35964089, 9717980
Macular dystrophy retinal 1 North Carolina type	Associate	39959174
Myocardial Infarction	Associate	33891165
Neoplasms	Associate	33028595, 34971930, 35996518
Severe Acute Respiratory Syndrome	Associate	36466920
ST Elevation Myocardial Infarction	Associate	33891165
Stomach Neoplasms	Associate	35996518

DNASE1 (deoxyribonuclease 1)