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DNASE1L3 deoxyribonuclease 1L3 [ Homo sapiens (human) ]

Gene ID: 1776, updated on 13-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58192257..58210972, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58232673..58251379, complement)
105.20220307 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. DNASE1L3 inhibits hepatocellular carcinoma by delaying cell cycle progression through CDK2. Sun J, et al. Cell Oncol (Dordr), 2022 Dec. PMID 36327092
  2. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling. Tusseau M, et al. J Clin Immunol, 2022 Aug. PMID 35670985
  3. Deoxyribonuclease 1-like 3 may be a potential prognostic biomarker associated with immune infiltration in colon cancer. Liu J, et al. Aging (Albany NY), 2021 Jun 22. PMID 34157681, Free PMC Article
  4. DNASE1L3 arrests tumor angiogenesis by impairing the senescence-associated secretory phenotype in response to stress. Guo D, et al. Aging (Albany NY), 2021 Mar 19. PMID 33744849, Free PMC Article
  5. DNase1L3 suppresses hepatocellular carcinoma growth via inhibiting complement autocrine effect. Chen QY, et al. Neoplasma, 2021 Jul. PMID 33618518

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. [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].
  3. 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.
  4. DNASE1L3 inhibits hepatocellular carcinoma by delaying cell cycle progression through CDK2.
    Title: DNASE1L3 inhibits hepatocellular carcinoma by delaying cell cycle progression through CDK2.
  5. 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.
  6. 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.
  7. 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.
  8. Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus.
    Title: Autoantibody-mediated impairment of DNASE1L3 activity in sporadic systemic lupus erythematosus.
  9. A deoxyribonuclease 1-like 3 genetic variant associates with asthma exacerbations.
    Title: A deoxyribonuclease 1-like 3 genetic variant associates with asthma exacerbations.
  10. The Nexus of cfDNA and Nuclease Biology.
    Title: The Nexus of cfDNA and Nuclease Biology.
Submit: New GeneRIF Correction See all GeneRIFs (36)

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)

Genotypes

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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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_001256560.2 → 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_2023_10

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

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