DNASE1L3

Protein identityUniProt · HPA

UniProt accession

Q13609

Gene

DNASE1L3

Ensembl

ENSG00000163687

Chromosome

3

Canonical length

305 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to blood

OverviewNCBI Gene

This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Canonical amino-acid sequenceUniProt

305 residues, UniProt reviewed canonical sequence.

>Q13609|DNASE1L3
     1  MSRELAPLLL LLLSIHSALA MRICSFNVRS FGESKQEDKN AMDVIVKVIK RCDIILVMEI
    61  KDSNNRICPI LMEKLNRNSR RGITYNYVIS SRLGRNTYKE QYAFLYKEKL VSVKRSYHYH
   121  DYQDGDADVF SREPFVVWFQ SPHTAVKDFV IIPLHTTPET SVKEIDELVE VYTDVKHRWK
   181  AENFIFMGDF NAGCSYVPKK AWKNIRLRTD PRFVWLIGDQ EDTTVKKSTN CAYDRIVLRG
   241  QEIVSSVVPK SNSVFDFQKA YKLTEEEALD VSDHFPVEFK LQSSRAFTNS KKSVTLRKKT
   301  KSKRS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNASE1L3 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)

0.26

Highest tissue expression

253 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNASE1L3.

Disease | AllUniProt

Conditions DNASE1L3 is implicated in, by any mechanism.

• Systemic lupus erythematosus 16 (SLEB16) MIM:614420

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 292 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal systemic lupus erythematosus type 16
• DNASE1L3-related disorder

Disease | AutoantibodyPubMed

Conditions in which antibodies against DNASE1L3 are reported. Each links to that disease's full target list.

• Lupus Erythematosus, Systemic 5

ReferencesPubMed · IEDB

Publications for DNASE1L3 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

1.12

gnomAD pLI

0

gnomAD missense Z

-0.03

DepMap mean gene effect

0.08

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic DNA fragmentation
• DNA metabolic process
• neutrophil activation involved in immune response
• programmed cell death involved in cell development
• regulation of acute inflammatory response
• regulation of neutrophil mediated cytotoxicity

Molecular functions

• calcium ion binding
• deoxyribonuclease I activity
• DNA binding
• DNA nuclease activity

Cellular components

• endoplasmic reticulum
• extracellular region
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Endonuclease/exonuclease/phosphatase
• Deoxyribonuclease I
• Deoxyribonuclease I, active site
• Deoxyribonuclease I, conservied site
• Endonuclease/exonuclease/phosphatase superfamily
• Endonuclease/Exonuclease/phosphatase family

KeywordsUniProt

• ADP-ribosylation
• Apoptosis
• Calcium
• Disulfide bond
• Endonuclease
• Endoplasmic reticulum
• Hydrolase
• Necrosis
• Nuclease
• Nucleus
• Secreted
• Signal
• Systemic lupus erythematosus