UniProt Protein Function: | DNASE1L3: Has DNA hydrolytic activity. Does not bind to actin. Cleaves chromatin DNA to nucleosomal units. Defects in DNASE1L3 are the cause of systemic lupus erythematosus type 16 (SLEB16). 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. Belongs to the DNase I family. |
UniProt Protein Details: | Protein type:EC 3.1.21.-; Secreted, signal peptide; Calcium-binding; Secreted; Deoxyribonuclease; Apoptosis Chromosomal Location of Human Ortholog: 3p14.3 Cellular Component: nucleus Molecular Function:endodeoxyribonuclease activity, producing 5'-phosphomonoesters; DNA binding; deoxyribonuclease activity; calcium ion binding; endodeoxyribonuclease activity Biological Process: DNA fragmentation during apoptosis; DNA metabolic process Disease: Systemic Lupus Erythematosus 16 |
NCBI Summary: | 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] |
UniProt Code: | Q13609 |
NCBI GenInfo Identifier: | 2494173 |
NCBI Gene ID: | 1776 |
NCBI Accession: | Q13609.1 |
UniProt Related Accession: | Q13609 |
Molecular Weight: | 33.4 kDa |
NCBI Full Name: | Deoxyribonuclease gamma |
NCBI Synonym Full Names: | deoxyribonuclease 1 like 3 |
NCBI Official Symbol: | DNASE1L3 |
NCBI Official Synonym Symbols: | LSD; DHP2; SLEB16; DNAS1L3 |
NCBI Protein Information: | deoxyribonuclease gamma |
UniProt Protein Name: | Deoxyribonuclease gamma |
UniProt Synonym Protein Names: | DNase I homolog protein DHP2; Deoxyribonuclease I-like 3; DNase I-like 3; Liver and spleen DNase; LS-DNase; LSD |
Protein Family: | Deoxyribonuclease |
UniProt Gene Name: | DNASE1L3 |
UniProt Entry Name: | DNSL3_HUMAN |