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    DNASE1L3 deoxyribonuclease 1 like 3 [ Homo sapiens (human) ]

    Gene ID: 1776, updated on 26-Jul-2021

    Summary

    Official Symbol
    DNASE1L3provided by HGNC
    Official Full Name
    deoxyribonuclease 1 like 3provided by HGNC
    Primary source
    HGNC:HGNC:2959
    See related
    Ensembl:ENSG00000163687 MIM:602244
    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
    LSD; DHP2; SLEB16; DNAS1L3
    Summary
    This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
    Expression
    Biased expression in spleen (RPKM 118.4), liver (RPKM 61.9) and 11 other tissues See more
    Orthologs
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    Genomic context

    See DNASE1L3 in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (58192257..58210972, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58177984..58196699, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene filamin B Neighboring gene Sharpr-MPRA regulatory region 12305 Neighboring gene Sharpr-MPRA regulatory region 1271 Neighboring gene FLNB antisense RNA 1 Neighboring gene uncharacterized LOC107986091 Neighboring gene abhydrolase domain containing 6, acylglycerol lipase

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genetic variants associated with disordered eating.
    GeneReviews: Not available
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    GeneReviews: Not available
    Systemic lupus erythematosus 16
    MedGen: C3280742 OMIM: 614420 GeneReviews: Not available
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calcium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables deoxyribonuclease I activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables deoxyribonuclease activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in DNA catabolic process, endonucleolytic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in DNA metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in apoptotic DNA fragmentation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in apoptotic DNA fragmentation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neutrophil activation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in programmed cell death involved in cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of acute inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of neutrophil mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    deoxyribonuclease gamma
    Names
    DNase I homolog protein 2
    DNase I homolog protein DHP2
    DNase I-like 3
    DNase gamma
    LS-DNase
    Liver and spleen DNase
    deoxyribonuclease I-like 3
    deoxyribonuclease I-like III
    NP_001243489.1
    NP_004935.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_032070.1 RefSeqGene

      Range
      5032..23747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256560.2NP_001243489.1  deoxyribonuclease gamma isoform 2 precursor

      See identical proteins and their annotated locations for NP_001243489.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC137936, AI660448, AK301263, BI521582, DB164811
      Consensus CDS
      CCDS58836.1
      UniProtKB/Swiss-Prot
      Q13609
      Related
      ENSP00000419052.1, ENST00000486455.5
      Conserved Domains (1) summary
      cl00490
      Location:15252
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
    2. NM_004944.4NP_004935.1  deoxyribonuclease gamma isoform 1 precursor

      See identical proteins and their annotated locations for NP_004935.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC137936, AI660448, BC015831, BI521582
      Consensus CDS
      CCDS2886.1
      UniProtKB/Swiss-Prot
      Q13609
      UniProtKB/TrEMBL
      A0A024R365
      Related
      ENSP00000378053.2, ENST00000394549.7
      Conserved Domains (1) summary
      smart00476
      Location:15282
      DNaseIc; deoxyribonuclease I

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      58192257..58210972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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