DNASE1L3 Gene - Deoxyribonuclease 1 Like 3
Key regulator of apoptosis-associated DNA fragmentation and autoimmune disease susceptibility
Gene Information Card
| Symbol | DNASE1L3 |
|---|---|
| Full Name | Deoxyribonuclease 1 Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 1776 ncbi.nlm.nih.gov/gene/1776 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | Q13609 |
| OMIM ID | 602244 |
| HGNC ID | 2956 |
| Aliases | DNase gamma, DNase Y, LSD, SLEB16, DNL1L |
Description
DNASE1L3 encodes a member of the DNase I family of endonucleases. The enzyme cleaves DNA in a calcium- and magnesium-dependent manner and is involved in the fragmentation of DNA during apoptosis. It is secreted by macrophages and dendritic cells and plays a critical role in clearing chromatin from apoptotic cells, thereby preventing autoimmune responses. Loss-of-function mutations in DNASE1L3 are associated with systemic lupus erythematosus (SLE) and hypocomplementemic urticarial vasculitis (HUVS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus (SLE) | Loss-of-function mutations impair clearance of apoptotic DNA, leading to autoantibody production and immune complex deposition | Multiple studies; OMIM #602244; ClinVar |
| Hypocomplementemic urticarial vasculitis (HUVS) | Deficient DNASE1L3 activity results in accumulation of extracellular chromatin and complement activation | Case reports; OMIM #602244 |
| Autoimmune lymphoproliferative syndrome (ALPS)-like phenotype | Impaired DNA fragmentation during apoptosis leads to defective lymphocyte homeostasis | Rare variant studies; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lymph node | 6.1 | Low |
| Bone marrow | 4.7 | Low |
| Whole blood | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.2 | High expression |
| K562 (leukemia) | 3.8 | Moderate expression |
| THP-1 (monocyte) | 5.6 | Moderate expression |
| Jurkat (T-cell) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.289C>T (p.Arg97*) | Nonsense | <0.01% | Loss of function; associated with SLE |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of function; associated with HUVS |
| c.407G>A (p.Arg136His) | Missense | 0.02% | Reduced enzymatic activity; risk factor for SLE |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing DNA degradation and promoting autoimmunity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • deoxyribonuclease activity (GO:0004536) | • DNA catabolic process (GO:0006308) |
| • apoptotic process (GO:0006915) | • extracellular region (GO:0005576) |
| • neutrophil chemotaxis (GO:0030593) |
Pathways
• Apoptosis - DNA fragmentation (Reactome: R-HSA-140342)
• Clearance of apoptotic cells (Reactome: R-HSA-3000480)
Protein Summary
DNASE1L3 is a 305-amino acid secreted endonuclease that digests double-stranded DNA in the presence of Ca2+ and Mg2+. It is primarily expressed in liver, spleen, and lymph nodes. The protein contains a signal peptide (residues 1-22) and a DNase I-like catalytic domain. It is essential for the fragmentation of chromatin during apoptosis and for the clearance of extracellular DNA. Deficiency leads to accumulation of self-DNA, triggering type I interferon production and autoantibody formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNASE1L3 Knockout HEK293 Cell Line | EDJ-KQ4460 | Human | 1776 | Details Get a Quote |
| DNASE1L3 Knockout HeLa Cell Line | EDJ-KQ53101 | Human | 1776 | Details Get a Quote |
| DNASE1L3 Knockout A-549 Cell Line | EDJ-KQ61575 | Human | 1776 | Details Get a Quote |
| DNASE1L3 Knockout HCT 116 Cell Line | EDJ-KQ70065 | Human | 1776 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
