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DNASE1 deoxyribonuclease 1 [ Homo sapiens (human) ]

Gene ID: 1773, updated on 5-Mar-2019

Summary

Official Symbol
DNASE1provided by HGNC
Official Full Name
deoxyribonuclease 1provided by HGNC
Primary source
HGNC:HGNC:2956
See related
Ensembl:ENSG00000213918 MIM:125505
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DNL1; DRNI
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]
Expression
Ubiquitous expression in small intestine (RPKM 12.9), duodenum (RPKM 11.9) and 25 other tissues See more
Orthologs

Genomic context

See DNASE1 in Genome Data Viewer
Location:
16p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (3611737..3665472)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3661772..3712689)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929732 Neighboring gene uncharacterized LOC105371060 Neighboring gene NLR family CARD domain containing 3 Neighboring gene SLX4 structure-specific endonuclease subunit Neighboring gene TNF receptor associated protein 1 Neighboring gene CREB binding protein Neighboring gene uncharacterized LOC102724927

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Systemic lupus erythematosus
MedGen: C0024141 OMIM: 152700 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-02-22)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-02-22)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38093, FLJ44902, DKFZp686H0155

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
deoxyribonuclease I activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
deoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA catabolic process, endonucleolytic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA catabolic process, endonucleolytic ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neutrophil activation involved in immune response ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of acute inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of neutrophil mediated cytotoxicity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
PubMed 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
deoxyribonuclease-1
Names
DNase I, lysosomal
Dornase alfa
deoxyribonuclease I
human urine deoxyribonuclease I
NP_001338754.1
NP_005214.2
XP_006720917.1
XP_011520695.1
XP_016878481.1
XP_016878482.1
XP_016878489.1
XP_016878490.1
XP_016878491.1
XP_016878492.1
XP_016878493.1
XP_016878494.1
XP_016878495.1
XP_024305937.1
XP_024305938.1
XP_024305939.1
XP_024305940.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009285.1 RefSeqGene

    Range
    5001..10157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001351825.1NP_001338754.1  deoxyribonuclease-1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC006111, AI378682, AJ298844
    Consensus CDS
    CCDS10507.1
    Conserved Domains (1) summary
    smart00476
    Location:21282
    DNaseIc; deoxyribonuclease I
  2. NM_005223.3NP_005214.2  deoxyribonuclease-1 precursor

    See identical proteins and their annotated locations for NP_005214.2

    Status: REVIEWED

    Source sequence(s)
    AC006111, AI378682, AJ298844
    Consensus CDS
    CCDS10507.1
    UniProtKB/Swiss-Prot
    P24855
    Related
    ENSP00000246949.5, ENST00000246949.9
    Conserved Domains (1) summary
    smart00476
    Location:21282
    DNaseIc; deoxyribonuclease I

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    3611737..3665472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023005.1XP_016878494.1  deoxyribonuclease-1 isoform X7

    UniProtKB/Swiss-Prot
    P24855
    Conserved Domains (1) summary
    cl00490
    Location:64150
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  2. XM_017023004.1XP_016878493.1  deoxyribonuclease-1 isoform X7

    UniProtKB/Swiss-Prot
    P24855
    Conserved Domains (1) summary
    cl00490
    Location:64150
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  3. XM_017023001.1XP_016878490.1  deoxyribonuclease-1 isoform X5

  4. XM_017022993.1XP_016878482.1  deoxyribonuclease-1 isoform X1

    Conserved Domains (1) summary
    smart00476
    Location:21267
    DNaseIc; deoxyribonuclease I
  5. XM_017022992.1XP_016878481.1  deoxyribonuclease-1 isoform X1

    Conserved Domains (1) summary
    smart00476
    Location:21267
    DNaseIc; deoxyribonuclease I
  6. XM_024450171.1XP_024305939.1  deoxyribonuclease-1 isoform X6

    Conserved Domains (1) summary
    cl00490
    Location:8213
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  7. XM_006720854.3XP_006720917.1  deoxyribonuclease-1 isoform X6

    See identical proteins and their annotated locations for XP_006720917.1

    Conserved Domains (1) summary
    cl00490
    Location:8213
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  8. XM_011522393.2XP_011520695.1  deoxyribonuclease-1 isoform X2

    See identical proteins and their annotated locations for XP_011520695.1

    UniProtKB/Swiss-Prot
    P24855
    Conserved Domains (1) summary
    smart00476
    Location:21282
    DNaseIc; deoxyribonuclease I
  9. XM_024450169.1XP_024305937.1  deoxyribonuclease-1 isoform X1

    Conserved Domains (1) summary
    smart00476
    Location:21267
    DNaseIc; deoxyribonuclease I
  10. XM_017023003.2XP_016878492.1  deoxyribonuclease-1 isoform X7

    UniProtKB/Swiss-Prot
    P24855
    Conserved Domains (1) summary
    cl00490
    Location:64150
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  11. XM_017023002.2XP_016878491.1  deoxyribonuclease-1 isoform X5

  12. XM_017023000.2XP_016878489.1  deoxyribonuclease-1 isoform X3

  13. XM_024450170.1XP_024305938.1  deoxyribonuclease-1 isoform X4

    Conserved Domains (1) summary
    smart00476
    Location:21267
    DNaseIc; deoxyribonuclease I
  14. XM_024450172.1XP_024305940.1  deoxyribonuclease-1 isoform X8

    Conserved Domains (1) summary
    cl00490
    Location:21145
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
  15. XM_017023006.1XP_016878495.1  deoxyribonuclease-1 isoform X7

    UniProtKB/Swiss-Prot
    P24855
    Conserved Domains (1) summary
    cl00490
    Location:64150
    EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

RNA

  1. XR_002957785.1 RNA Sequence

  2. XR_002957783.1 RNA Sequence

  3. XR_002957784.1 RNA Sequence

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