RBP Type	Canonical_RBPs
Diseases	N.A.
Drug	N.A.
Main interacting RNAs	N.A.
Moonlighting functions	Transmemebrane
Localizations	N.A.
BulkPerturb-seq

Ensembl ID	ENSG00000213918	Gene ID	1773	Accession	2956
Symbol	DNASE1	Alias	DNL1;DRNI	Full Name	deoxyribonuclease 1
Status	Confidence	Length	68416 bases	Strand	Plus strand
Position	16 : 3611728 - 3680143	RNA binding domain	Exo_endo_phos
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 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]

Protein	Domain	Pfam ID	E-value	Domain number
ENSP00000246949	Exo_endo_phos	PF03372	4.9e-08	1
ENSP00000385905	Exo_endo_phos	PF03372	4.9e-08	1

Pubmed ID	Full Name	Cell	Author	Time	Doi

Pubmed ID	Title	Author	Time	Journal

Name	Transcript ID	bp	Protein	Translation ID
DNASE1-207	ENST00000570769	2732	86aa	ENSP00000458467
DNASE1-213	ENST00000576050	965	60aa	ENSP00000461745
DNASE1-206	ENST00000570761	897	No protein	-
DNASE1-202	ENST00000407479	8552	282aa	ENSP00000385905
DNASE1-201	ENST00000246949	1346	282aa	ENSP00000246949
DNASE1-209	ENST00000571460	1377	60aa	ENSP00000459850
DNASE1-204	ENST00000570520	575	No protein	-
DNASE1-203	ENST00000570376	582	60aa	ENSP00000461725
DNASE1-211	ENST00000573804	525	No protein	-
DNASE1-208	ENST00000570807	766	90aa	ENSP00000458959
DNASE1-210	ENST00000572237	541	75aa	ENSP00000461527
DNASE1-205	ENST00000570664	528	108aa	ENSP00000459507
DNASE1-214	ENST00000576792	580	72aa	ENSP00000461129
DNASE1-212	ENST00000575479	613	65aa	ENSP00000461153

Pathway ID	Pathway Name	Source

ensgID	Trait	pValue	Pubmed ID
34677	Platelet Function Tests	6.8000000E-006	-

ensgID	SNP	Chromosome	Position	Trait	PubmedID	Or or BEAT	EFO ID

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Ensembl ID	Source				Target
	Species	Protein ID	Perc_pos	Perc_id	Species	Protein ID	Perc_pos	Perc_id

Go ID	Go term	No. evidence	Entries	Species	Category
GO:0002283	involved_in neutrophil activation involved in immune response	1	ISS	Homo_sapiens(9606)	Process
GO:0002673	involved_in regulation of acute inflammatory response	1	ISS	Homo_sapiens(9606)	Process
GO:0003677	enables DNA binding	1	IBA	Homo_sapiens(9606)	Function
GO:0003779	enables actin binding	1	IEA	Homo_sapiens(9606)	Function
GO:0004530	enables deoxyribonuclease I activity	1	IBA	Homo_sapiens(9606)	Function
GO:0005515	enables protein binding	1	IPI	Homo_sapiens(9606)	Function
GO:0005576	located_in extracellular region	1	TAS	Homo_sapiens(9606)	Component
GO:0005634	is_active_in nucleus	1	IBA	Homo_sapiens(9606)	Component
GO:0005635	located_in nuclear envelope	1	IEA	Homo_sapiens(9606)	Component
GO:0006308	involved_in DNA catabolic process	2	IBA,ISS	Homo_sapiens(9606)	Process
GO:0006915	involved_in apoptotic process	1	IEA	Homo_sapiens(9606)	Process
GO:0042588	located_in zymogen granule	1	IEA	Homo_sapiens(9606)	Component
GO:0070062	located_in extracellular exosome	1	HDA	Homo_sapiens(9606)	Component
GO:0070948	involved_in regulation of neutrophil mediated cytotoxicity	1	ISS	Homo_sapiens(9606)	Process