Seroatlas · Human Serome Atlas

DNASE1

Deoxyribonuclease-1

Also known as: DNAS1_HUMAN, DNL1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P24855
Gene
DNASE1
Ensembl
ENSG00000213918
Chromosome
16
Canonical length
282 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location
Vesicles
Secretome location
Secreted to digestive system

OverviewNCBI Gene

This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

282 residues, UniProt reviewed canonical sequence.

>P24855|DNASE1
     1  MRGMKLLGAL LALAALLQGA VSLKIAAFNI QTFGETKMSN ATLVSYIVQI LSRYDIALVQ
    61  EVRDSHLTAV GKLLDNLNQD APDTYHYVVS EPLGRNSYKE RYLFVYRPDQ VSAVDSYYYD
   121  DGCEPCGNDT FNREPAIVRF FSRFTEVREF AIVPLHAAPG DAVAEIDALY DVYLDVQEKW
   181  GLEDVMLMGD FNAGCSYVRP SQWSSIRLWT SPTFQWLIPD SADTTATPTH CAYDRIVVAG
   241  MLLRGAVVPD SALPFNFQAA YGLSDQLAQA ISDHYPVEVM LK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNASE1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
146 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 146 nTPM
  • small intestine: 113 nTPM
  • duodenum: 106 nTPM
  • kidney: 63 nTPM
  • stomach: 16 nTPM
  • pituitary gland: 15 nTPM

Single-cell type

  • enterocytes: 688 nCPM
  • gonadotrophs: 157 nCPM
  • distal convoluted tubule cells: 150 nCPM
  • loop of henle epithelial cells: 136 nCPM
  • retinal horizontal cells: 106 nCPM
  • early primary spermatocytes: 106 nCPM

Immune cell

  • neutrophil: 3.5 nTPM
  • eosinophil: 1.4 nTPM
  • basophil: 1.3 nTPM
  • naive B-cell: 1.2 nTPM
  • memory B-cell: 1 nTPM
  • gdT-cell: 0.9 nTPM

Brain region

  • cerebellum: 29 nTPM
  • white matter: 24 nTPM
  • choroid plexus: 20 nTPM
  • cerebral cortex: 19 nTPM
  • pons: 19 nTPM
  • medulla oblongata: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNASE1.

Disease | AllUniProt

Conditions DNASE1 is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 86 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on DNASE1 was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.95
gnomAD pLI
0
gnomAD missense Z
-2.55
DepMap mean gene effect
-0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNASE1 as an antibody target. Whether an autoantibody or antibody against DNASE1 could matter depends on whether native DNASE1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNASE1 is annotated as secreted, so native DNASE1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Source-annotated serology context

The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.

  • Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease.

Canonical record: https://seroatlas.com/gene/DNASE1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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