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    DNASE1 deoxyribonuclease 1 [ Homo sapiens (human) ]

    Gene ID: 1773, updated on 20-Jul-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:
    15
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 long intergenic non-protein coding RNA 2861

    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 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 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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