• Gene id: 1773

Gene Summary

• Gene Symbol: DNASE1   Gene   UCSC   Ensembl
• Aliases: DNL1, DRNI
• Gene name: deoxyribonuclease 1
• Alternate names: deoxyribonuclease-1, DNase I, lysosomal, Dornase alfa, deoxyribonuclease I, human urine deoxyribonuclease I,
• Gene location: 16p13.3 (3611736: 3665471)     Exons: 15     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 612532

Protein Summary

• Protein general information: P24855  
  • Name: Deoxyribonuclease 1 (EC 3.1.21.1) (Deoxyribonuclease I) (DNase I) (Dornase alfa)
  • Length: 282  
  • Mass: 31434
  • Tissue specificity: Principally in tissues of the digestive system. Highest levels found in urine, but also relatively abundant in semen and saliva.
• Sequence:

  MRGMKLLGALLALAALLQGAVSLKIAAFNIQTFGETKMSNATLVSYIVQILSRYDIALVQEVRDSHLTAVGKLLD
  NLNQDAPDTYHYVVSEPLGRNSYKERYLFVYRPDQVSAVDSYYYDDGCEPCGNDTFNREPAIVRFFSRFTEVREF
  AIVPLHAAPGDAVAEIDALYDVYLDVQEKWGLEDVMLMGDFNAGCSYVRPSQWSSIRLWTSPTFQWLIPDSADTT
  ATPTHCAYDRIVVAGMLLRGAVVPDSALPFNFQAAYGLSDQLAQAISDHYPVEVMLK

• Structural information:
  • Interpro: IPR018057  IPR016202  IPR033125  IPR036691  IPR005135  
  • Prosite: PS00919 PS00918
  • PDB: 4AWN
  • PDBsum: 4AWN
  • STRING: ENSP00000385905
• Other Databases: GeneCards:  DNASE1  Malacards:  DNASE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000737	DNA catabolic process, endonucleolytic	IBA	biological process
GO:0003677	DNA binding	IBA	molecular function
GO:0004530	deoxyribonuclease I activity	IBA	molecular function
GO:0004536	deoxyribonuclease activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006308	DNA catabolic process	IBA	biological process
GO:0070948	regulation of neutrophil mediated cytotoxicity	ISS	biological process
GO:0002673	regulation of acute inflammatory response	ISS	biological process
GO:0002283	neutrophil activation involved in immune response	ISS	biological process
GO:0000737	DNA catabolic process, endonucleolytic	ISS	biological process
GO:0004536	deoxyribonuclease activity	IEA	molecular function
GO:0006308	DNA catabolic process	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0004519	endonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0004530	deoxyribonuclease I activity	IEA	molecular function
GO:0070948	regulation of neutrophil mediated cytotoxicity	IEA	biological process
GO:0004530	deoxyribonuclease I activity	IEA	molecular function
GO:0002673	regulation of acute inflammatory response	IEA	biological process
GO:0002283	neutrophil activation involved in immune response	IEA	biological process
GO:0000737	DNA catabolic process, endonucleolytic	IEA	biological process
GO:0004536	deoxyribonuclease activity	IEA	molecular function
GO:0004530	deoxyribonuclease I activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq