InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DNASE1L3

Summary

InnateDB Protein

IDBP-241356.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DNASE1L3

Protein Name

deoxyribonuclease I-like 3

Synonyms

DHP2; DNAS1L3; LSD; SLEB16;

Species

Homo sapiens

Ensembl Protein

ENSP00000378053

InnateDB Gene

IDBG-42007 (DNASE1L3)

Protein Structure

UniProt Annotation

Function

Has DNA hydrolytic activity. Does not bind to actin. Cleaves chromatin DNA to nucleosomal units.

Subcellular Localization

Nucleus. Note=May first pass through the ER membrane before being imported in the nucleus.

Disease Associations

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. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. 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:0000269PubMed:22019780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Liver and spleen.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0004519	endonuclease activity
GO:0004520	endodeoxyribonuclease activity
GO:0004536	deoxyribonuclease activity
GO:0005509	calcium ion binding
GO:0016888	endodeoxyribonuclease activity, producing 5'-phosphomonoesters