DNASE1 (deoxyribonuclease 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1773
Gene name Gene Name - the full gene name approved by the HGNC.
Deoxyribonuclease 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNASE1
Synonyms (NCBI Gene) Gene synonyms aliases
DNL1, DRNI
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
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
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
RUNX3 Activation 17956589
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
125505 2956 ENSG00000213918
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
Sequence length 282
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus, susceptibility to, systemic lupus erythematosus, autosomal systemic lupus erythematosus type 16 N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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