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

Gene ID: 1776, updated on 17-Oct-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
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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)

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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_001256560.2NP_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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