DNASE1

GENE INFORMATION

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Gene name

DNASE1 (HGNC Symbol)

Synonyms

DNL1

Description

Deoxyribonuclease I (HGNC Symbol)

Entrez gene 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]

Chromosome

16

Cytoband

p13.3

Chromosome location (bp)

3611728 - 3680143

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000213918 (version 78.38)

Entrez gene

1773

UniProt

P24855 (UniProt - Evidence at protein level)

neXtProt

NX_P24855

Antibodypedia

DNASE1 antibodies
 

PROTEIN VIEW

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DNASE1-001
 
DNASE1-005
 
DNASE1-014
 
DNASE1-015
 
DNASE1-016
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DNASE1-001 ENSP00000246949
ENST00000246949
P24855
Show all »
Show » Show » 282 31.4 Yes 0
DNASE1-005 ENSP00000385905
ENST00000407479
P24855
Show all »
Show » Show » 282 31.4 Yes 0
DNASE1-014 ENSP00000461129
ENST00000576792
I3L4B8
Show all »
Show » Show » 72 7.8 No 0
DNASE1-015 ENSP00000461153
ENST00000575479
Show » 65 6.8 No 0
DNASE1-016 ENSP00000459507
ENST00000570664
I3L298
Show all »
Show » Show » 108 12.3 No 0