DNASE1L1 Gene
Deoxyribonuclease 1 Like 1
Gene Information Card
| Symbol | DNASE1L1 |
|---|---|
| Full Name | Deoxyribonuclease 1 Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 1774 ncbi.nlm.nih.gov/gene/1774 |
| Ensembl ID | ENSG00000101986 |
| UniProt ID | P49184 |
| OMIM ID | 300060 |
| HGNC ID | 2957 |
| Aliases | DNase X, DNase1L1, XIB, DNASE1L1 |
Description
DNASE1L1 encodes a member of the deoxyribonuclease I family. This protein is an endonuclease that cleaves DNA in a calcium- and magnesium-dependent manner, producing 5'-phosphodinucleotide and 5'-phosphooligonucleotide end products. It is involved in DNA degradation during apoptosis and may play a role in chromatin condensation. The gene is located on the X chromosome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune disorders (e.g., systemic lupus erythematosus) | Defective DNase activity may impair clearance of apoptotic DNA, leading to autoantibody production | PMID: 15689431 |
| Cancer (various types) | Altered expression or mutation may affect genomic stability and apoptosis | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 9.8 | Medium |
| Liver | 6.2 | Low |
| Kidney | 5.1 | Low |
| Lung | 4.3 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.5 | Cervical cancer cell line |
| HEK293 | 7.2 | Embryonic kidney cell line |
| K562 | 4.0 | Leukemia cell line |
| MCF7 | 3.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.374C>T (p.Thr125Met) | missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the active site or cause premature truncation are predicted to reduce DNase activity, impairing apoptotic DNA clearance.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DNASE1L1.
Dominant Negative (DN)
No dominant-negative mutations have been described for this gene.
View complete mutation data：
Gene Ontology (GO)
| • endonuclease activity (GO:0004519) | • DNA catabolic process (GO:0006308) |
| • apoptotic process (GO:0006915) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • metal ion binding (GO:0046872) |
Pathways
• Apoptosis - DNA fragmentation
• Degradation of apoptotic DNA
Protein Summary
DNASE1L1 (DNase X) is a 35 kDa endonuclease that cleaves double-stranded DNA in a Ca2+/Mg2+-dependent manner. It is localized to the nucleus and cytoplasm. The protein contains a signal peptide and a DNase I-like domain. It is expressed in heart, skeletal muscle, and other tissues. Its primary function is in DNA fragmentation during apoptosis, and it may also participate in chromatin remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNASE1L1 Knockout HEK293 Cell Line | EDJ-KQ4462 | Human | 1774 | Details Get a Quote |
| DNASE1L1 Knockout A-549 Cell Line | EDJ-KQ27018 | Human | 1774 | Details Get a Quote |
| DNASE1L1 Knockout HCT 116 Cell Line | EDJ-KQ27019 | Human | 1774 | Details Get a Quote |
| DNASE1L1 Knockout HeLa Cell Line | EDJ-KQ25756 | Human | 1774 | Details Get a Quote |
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