Human Gene DNASE1L3 (ENST00000394549.7_10) from GENCODE V47lift37
  Description: deoxyribonuclease 1 like 3, transcript variant 1 (from RefSeq NM_004944.4)
Gencode Transcript: ENST00000394549.7_10
Gencode Gene: ENSG00000163687.14_16
Transcript (Including UTRs)
   Position: hg19 chr3:58,177,984-58,196,699 Size: 18,716 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr3:58,178,414-58,196,633 Size: 18,220 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:58,177,984-58,196,699)mRNA (may differ from genome)Protein (305 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DNSL3_HUMAN
DESCRIPTION: RecName: Full=Deoxyribonuclease gamma; Short=DNase gamma; EC=3.1.21.-; AltName: Full=DNase I homolog protein DHP2; AltName: Full=Deoxyribonuclease I-like 3; Short=DNase I-like 3; AltName: Full=Liver and spleen DNase; Short=LS-DNase; Short=LSD; Flags: Precursor;
FUNCTION: Has DNA hydrolytic activity. Does not bind to actin. Cleaves chromatin DNA to nucleosomal units.
COFACTOR: Calcium.
COFACTOR: Magnesium.
ENZYME REGULATION: Inhibited by zinc.
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is about 7.2;
SUBCELLULAR LOCATION: Nucleus. Note=May first pass through the ER membrane before being imported in the nucleus.
TISSUE SPECIFICITY: Liver and spleen.
DISEASE: Defects in DNASE1L3 are the cause of systemic lupus erythematosus type 16 (SLEB16) [MIM:614420]. A rare autosomal recessive form of systemic lupus erythematosus with childhood onset, characterized by high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Systemic lupus erythematosus is a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
SIMILARITY: Belongs to the DNase I family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNASE1L3
Diseases sorted by gene-association score: systemic lupus erythematosus 16* (1380), hypocomplementemic urticarial vasculitis* (368), lupus erythematosus (12), systemic lupus erythematosus (9), epiglottitis (6), childhood type dermatomyositis (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.90 RPKM in Spleen
Total median expression: 150.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.0066-0.212 Picture PostScript Text
3' UTR -110.40430-0.257 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018057 - Deoxyribonuclease-1_AS
IPR016202 - DNase_I-like
IPR008185 - DNase_I_euk
IPR005135 - Endo/exonuclease/phosphatase

Pfam Domains:
PF03372 - Endonuclease/Exonuclease/phosphatase family

SCOP Domains:
56219 - DNase I-like

ModBase Predicted Comparative 3D Structure on Q13609
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0004518 nuclease activity
GO:0004519 endonuclease activity
GO:0004520 endodeoxyribonuclease activity
GO:0004536 deoxyribonuclease activity
GO:0005509 calcium ion binding
GO:0016787 hydrolase activity

Biological Process:
GO:0000737 DNA catabolic process, endonucleolytic
GO:0002283 neutrophil activation involved in immune response
GO:0002673 regulation of acute inflammatory response
GO:0006259 DNA metabolic process
GO:0006308 DNA catabolic process
GO:0006309 apoptotic DNA fragmentation
GO:0006915 apoptotic process
GO:0010623 programmed cell death involved in cell development
GO:0012501 programmed cell death
GO:0070948 regulation of neutrophil mediated cytotoxicity

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum


-  Descriptions from all associated GenBank mRNAs
  AK301263 - Homo sapiens cDNA FLJ54182 complete cds, highly similar to Deoxyribonuclease gamma precursor (EC 3.1.21.-).
U75744 - Homo sapiens DNase gamma mRNA, complete cds.
AF047354 - Homo sapiens liver and spleen DNase precursor (LSD) mRNA, complete cds.
AK131323 - Homo sapiens cDNA FLJ16325 fis, clone STOMA2003158, highly similar to Deoxyribonuclease gamma precursor (EC 3.1.21.-).
U56814 - Human DNase1-Like III protein (DNAS1L3) mRNA, complete cds.
BC015831 - Homo sapiens deoxyribonuclease I-like 3, mRNA (cDNA clone MGC:27146 IMAGE:4723725), complete cds.
DQ892850 - Synthetic construct clone IMAGE:100005480; FLH190289.01X; RZPDo839G0875D deoxyribonuclease I-like 3 (DNASE1L3) gene, encodes complete protein.
DQ896097 - Synthetic construct Homo sapiens clone IMAGE:100010557; FLH190285.01L; RZPDo839G0865D deoxyribonuclease I-like 3 (DNASE1L3) gene, encodes complete protein.
AK313303 - Homo sapiens cDNA, FLJ93816, Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.
KJ896715 - Synthetic construct Homo sapiens clone ccsbBroadEn_06109 DNASE1L3 gene, encodes complete protein.
CU677467 - Synthetic construct Homo sapiens gateway clone IMAGE:100018097 5' read DNASE1L3 mRNA.
AK097120 - Homo sapiens cDNA FLJ39801 fis, clone SPLEN2007653.
AB209613 - Homo sapiens mRNA for deoxyribonuclease I-like 3 precursor variant protein.
JD098113 - Sequence 79137 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R8B1, B7Z707, DHP2, DNAS1L3, DNASE1L3 , DNSL3_HUMAN, ENST00000394549.1, ENST00000394549.2, ENST00000394549.3, ENST00000394549.4, ENST00000394549.5, ENST00000394549.6, NM_004944, O75803, Q13609, uc318wsl.1, uc318wsl.2
UCSC ID: ENST00000394549.7_10
RefSeq Accession: NM_004944.4
Protein: Q13609 (aka DNSL3_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.