DNASE1L3
entrez
1776
canonical
uniprot
Q13609
canonical
ensembl
ENSG00000163687
resolver
ensp
ENSP00000378053
resolver
ensp
ENSP00000419052
resolver
genesymbol
DNASE1L3
resolver
genesymbol_syn
DHP2
resolver
genesymbol_syn
DNAS1L3
resolver
hgnc
HGNC:2959
resolver
uniprot
B2R8B1
resolver
uniprot
B7Z707
resolver
uniprot
O75803
resolver
uniprot_entry
DNSL3_HUMAN
resolver
uniprot_sec
B2R8B1
resolver
uniprot_sec
B7Z707
resolver
uniprot_sec
O75803
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by zinc. {ECO:0000250|UniProtKB:O89107}.
uniprot
proteins
amino_acid_sequence
MSRELAPLLLLLLSIHSALAMRICSFNVRSFGESKQEDKNAMDVIVKVIKRCDIILVMEIKDSNNRICPILMEKLNRNSRRGITYNYVISSRLGRNTYKEQYAFLYKEKLVSVKRSYHYHDYQDGDADVFSREPFVVWFQSPHTAVKDFVIIPLHTTPETSVKEIDELVEVYTDVKHRWKAENFIFMGDFNAGCSYVPKKAWKNIRLRTDPRFVWLIGDQEDTTVKKSTNCAYDRIVLRGQEIVSSVVPKSNSVFDFQKAYKLTEEEALDVSDHFPVEFKLQSSRAFTNSKKSVTLRKKTKSKRS
uniprot
proteins
disease_involvement
DISEASE: Systemic lupus erythematosus 16 (SLEB16) [MIM:614420]: A rare autosomal recessive form of systemic lupus erythematosus with childhood onset, characterized by high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Systemic lupus erythematosus is a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269|PubMed:22019780}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.21.-
uniprot
proteins
function
FUNCTION: Has DNA hydrolytic activity. Is capable of both single- and double-stranded DNA cleavage, producing DNA fragments with 3'-OH ends (By similarity). Can cleave chromatin to nucleosomal units and cleaves nucleosomal and liposome-coated DNA (PubMed:10807908, PubMed:14646506, PubMed:27293190, PubMed:9070308, PubMed:9714828). Acts in internucleosomal DNA fragmentation (INDF) during apoptosis and necrosis (PubMed:23229555, PubMed:24312463). The role in apoptosis includes myogenic and neuronal differentiation, and BCR-mediated clonal deletion of self-reactive B cells (By similarity). Is active on chromatin in apoptotic cell-derived membrane-coated microparticles and thus suppresses anti-DNA autoimmunity (PubMed:27293190). Together with DNASE1, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity). {ECO:0000250|UniProtKB:O55070, ECO:0000250|UniProtKB:O89107, ECO:0000269|PubMed:10807908, ECO:0000269|PubMed:14646506, ECO:0000269|PubMed:23229555, ECO:0000269|PubMed:24312463, ECO:0000269|PubMed:27293190, ECO:0000269|PubMed:9070308, ECO:0000269|PubMed:9714828}.
uniprot
proteins
mass_dalton
35504
uniprot
proteins
post_translational_modification
PTM: Poly-ADP-ribosylated by PARP1. ADP-ribosylation negatively regulates enzymatic activity during apoptosis. {ECO:0000305|PubMed:10807908}.
uniprot
proteins
protein_family
DNase I family
uniprot
proteins
pubmed
10807908
uniprot
proteins
pubmed
11141064
uniprot
proteins
pubmed
14646506
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19559017
uniprot
proteins
pubmed
21692081
uniprot
proteins
pubmed
22019780
uniprot
proteins
pubmed
23229555
uniprot
proteins
pubmed
24312463
uniprot
proteins
pubmed
27293190
uniprot
proteins
pubmed
9070308
uniprot
proteins
pubmed
9205125
uniprot
proteins
pubmed
9714828
uniprot
proteins
sequence_length
305
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11141064, ECO:0000269|PubMed:23229555}. Endoplasmic reticulum {ECO:0000269|PubMed:23229555}. Secreted {ECO:0000269|PubMed:9714828}. Note=Translocates from the endoplasmic reticulum to the nucleus during apoptosis (PubMed:23229555). Contradictory reports exist about the subcellular localization under normal physiological conditions. Under conditions of cell death, may diffuse and/or be actively transported to the nucleus. {ECO:0000269|PubMed:23229555, ECO:0000305}.
uniprot
proteins