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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DNASE1L1
deoxyribonuclease 1 like 1
Chromosome X · Xq28
NCBI Gene: 1774Ensembl: ENSG00000013563.15HGNC: HGNC:2957UniProt: P49184
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumprotein bindingDNA catabolic processnucleusBarth syndromeneurodegenerative diseaseAbnormality of the cardiovascular systemendocardial fibroelastosis
✦AI Summary

DNASE1L1 (deoxyribonuclease 1 like 1) is a member of the DNase1 family that functions as an endonuclease involved in DNA degradation and cellular metabolism. The protein exhibits deoxyribonuclease I activity and plays a role in DNA catabolic processes 1. Evolutionary analysis reveals that DNASE1L1 co-existed with other DNase1 family members in jawless fish and acquired a GPI-anchor for plasma membrane attachment in bony fishes, facilitating its extracellular function 1. The gene is located on the X chromosome X shows tissue-specific expression patterns 2. DNASE1L1 has been implicated in several disease contexts through genetic association studies. Expression quantitative trait loci (eQTL) analysis identified variants in DNASE1L1 associated with multiple conditions including bilirubin levels, type 1 diabetes, and schizophrenia 3. Alternative splicing events in DNASE1L1 have been identified as prognostic biomarkers in uveal melanoma, with specific splicing patterns associated with patient survival outcomes 45. Additionally, amplifications of DNASE1L1 on chromosome X have been consistently observed in ovarian mature cystic teratomas, suggesting a potential role in tumor formation 6. These findings indicate DNASE1L1's importance in both normal cellular processes and disease pathogenesis.

Sources cited
1
DNASE1L1 evolutionary history, GPI-anchor acquisition, and co-existence with other DNase1 family members
PMID: 35725583
2
Gene location on X chromosome and tissue-specific expression patterns
PMID: 36628843
3
eQTL associations with bilirubin levels, type 1 diabetes, and schizophrenia
PMID: 27155841
4
Alternative splicing events as prognostic biomarkers in uveal melanoma
PMID: 34129849
5
Prognostic splicing signatures and survival prediction in uveal melanoma
PMID: 33479809
6
Consistent amplifications in ovarian mature cystic teratomas
PMID: 38907278
Disease Associationsⓘ20
Barth syndromeOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.34Weak
Abnormality of the cardiovascular systemOpen Targets
0.17Weak
dilated cardiomyopathyOpen Targets
0.12Weak
endocardial fibroelastosisOpen Targets
0.12Weak
Left ventricular noncompaction cardiomyopathyOpen Targets
0.12Weak
cardiomyopathyOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
Nijmegen breakage syndromeOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
disorder of glycogen metabolismOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
ankylosing spondylitisOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
cystic teratomaOpen Targets
0.00Suggestive
teratomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DNASE1L2Shared pathway100%TREX2Shared pathway67%DNASE1L3Shared pathway50%REXO4Shared pathway40%DNASE2Shared pathway38%ISG20L2Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Lung
70%
Brain
48%
Liver
36%
Ovary
35%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
DNASE1L1DNASE1L2TREX2DNASE1L3REXO4DNASE2ISG20L2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P49184
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.78LoF Tolerant
pLIⓘ
0.23Tolerant
Observed/Expected LoF0.43 [0.25–0.78]
RankingsWhere DNASE1L1 stands among ~20K protein-coding genes
  • #9,717of 20,598
    Most Researched43
  • #6,334of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedDNASE1L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of Prognostic alternative splicing signatures and their clinical significance in uveal melanoma.
PMID: 34129849
Exp Eye Res · 2021
1.00
2
Neutrophil Extracellular Trap Degradation by Differently Polarized Macrophage Subsets.
PMID: 32673525
Arterioscler Thromb Vasc Biol · 2020
0.90
3
Origin and significance of the human DNase repertoire.
PMID: 35725583
Sci Rep · 2022
0.80
4
Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature cystic teratomas of the ovary identified by array comparative genomic hybridization may explain teratoma characteristics in chondrogenesis and osteogenesis.
PMID: 38907278
J Ovarian Res · 2024
0.70
5
Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.
PMID: 36628843
Mutat Res · 2023
0.60