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    DNASE1L3 deoxyribonuclease 1L3 [ Homo sapiens (human) ]

    Gene ID: 1776, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DNASE1L3provided by HGNC
    Official Full Name
    deoxyribonuclease 1L3provided by HGNC
    Primary source
    HGNC:HGNC:2959
    See related
    Ensembl:ENSG00000163687 MIM:602244; AllianceGenome:HGNC:2959
    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
    D3; 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
    mouse all
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    Genomic context

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    See DNASE1L3 in Genome Data Viewer
    Location:
    3p14.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58192257..58210972, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58232673..58251379, complement)
    RS_2024_09 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 uncharacterized LOC124909485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20000 Neighboring gene uncharacterized LOC124909386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20002 Neighboring gene uncharacterized LOC107986091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20005 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:58202830-58203333 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:58203334-58203836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58222930-58223869 Neighboring gene abhydrolase domain containing 6, acylglycerol lipase Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58276464-58277147

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Correlation between decreased sensitivity of the Daudi lymphoma cells to VP-16-induced apoptosis and deficiency in DNAS1L3 expression. Boulares H, et al. Biochem Biophys Res Commun, 2006 Mar 10. PMID 16427601
    2. Homeostatic Milieu Induces Production of Deoxyribonuclease 1-like 3 from Myeloid Cells. Inokuchi S, et al. J Immunol, 2020 Apr 15. PMID 32188756
    3. Serum Deoxyribonuclease 1-like 3 is a potential biomarker for diagnosis of ankylosing spondylitis. Sun Y, et al. Clin Chim Acta, 2020 Apr. PMID 31794766
    4. Serum level of DNase1l3 in patients with dermatomyositis/polymyositis, systemic lupus erythematosus and rheumatoid arthritis, and its association with disease activity. Zhao Q, et al. Clin Exp Med, 2017 Nov. PMID 28039554
    5. DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome. Ozçakar ZB, et al. Arthritis Rheum, 2013 Aug. PMID 23666765

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models.
      Title: A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models.
    2. Double-negative B cells and DNASE1L3 colocalise with microbiota in gut-associated lymphoid tissue.
      Title: Double-negative B cells and DNASE1L3 colocalise with microbiota in gut-associated lymphoid tissue.
    3. Deoxyribonuclease 1-like 3 inhibits colorectal malignancy through antagonizing NEDD4-triggered CDKN1A ubiquitination.
      Title: Deoxyribonuclease 1-like 3 inhibits colorectal malignancy through antagonizing NEDD4-triggered CDKN1A ubiquitination.
    4. [Decreased DNase1L3 secretion and associated antibodies induce impaired degradation of NETs in patients with sporadic SLE].
      Title: [Decreased DNase1L3 secretion and associated antibodies induce impaired degradation of NETs in patients with sporadic SLE].
    5. Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant.
      Title: Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant.
    6. DNASE1L3 inhibits hepatocellular carcinoma by delaying cell cycle progression through CDK2.
      Title: DNASE1L3 inhibits hepatocellular carcinoma by delaying cell cycle progression through CDK2.
    7. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
      Title: DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
    8. DNASE1L3 inhibits proliferation, invasion and metastasis of hepatocellular carcinoma by interacting with beta-catenin to promote its ubiquitin degradation pathway.
      Title: DNASE1L3 inhibits proliferation, invasion and metastasis of hepatocellular carcinoma by interacting with β-catenin to promote its ubiquitin degradation pathway.
    9. Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus.
      Title: Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus.
    10. Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus.
      Title: Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal systemic lupus erythematosus type 16
    MedGen: C3280742 OMIM: 614420 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA nuclease activity TAS
    Traceable Author Statement
    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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
    		  
    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
    		  
    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
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001256560.2 → NP_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/TrEMBL
      A0A0A0MT68
      Related
      ENSP00000419052.1, ENST00000486455.5
      Conserved Domains (1) summary
      cl00490
      Location:15 → 252
      EEP; Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily

    2. NM_004944.4 → NP_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
      B2R8B1, B7Z707, O75803, Q13609
      UniProtKB/TrEMBL
      A0A0A0MT68
      Related
      ENSP00000378053.2, ENST00000394549.7
      Conserved Domains (1) summary
      smart00476
      Location:15 → 282
      DNaseIc; deoxyribonuclease I

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      58232673..58251379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13609.1 GenPept UniProtKB/Swiss-Prot:Q13609

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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