InnateDB Protein
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IDBP-241356.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DNASE1L3
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Protein Name
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deoxyribonuclease I-like 3
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Synonyms
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DHP2; DNAS1L3; LSD; SLEB16;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000378053
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InnateDB Gene
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IDBG-42007 (DNASE1L3)
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Protein Structure
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Function |
Has DNA hydrolytic activity. Does not bind to actin. Cleaves chromatin DNA to nucleosomal units.
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Subcellular Localization |
Nucleus. Note=May first pass through the ER membrane before being imported in the nucleus.
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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.
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Tissue Specificity |
Liver and spleen.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR005135
Endonuclease/exonuclease/phosphatase
IPR016202
Deoxyribonuclease I
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PFAM |
PF03372
PF14529
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PRINTS |
PR00130
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PIRSF |
PIRSF000988
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SMART |
SM00476
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TIGRFAMs |
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Modification |
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SwissProt |
Q13609
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PhosphoSite |
PhosphoSite-Q13609
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TrEMBL |
C9J9N0
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UniProt Splice Variant |
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Entrez Gene |
1776
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UniGene |
Hs.476453
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RefSeq |
NP_004935
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HUGO |
HGNC:2959
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OMIM |
602244
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CCDS |
CCDS2886
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HPRD |
03764
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IMGT |
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EMBL |
AC137936
AF047354
AK301263
AK313303
BC015831
CH471055
U56814
U75744
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GenPept |
AAB63967
AAC23652
AAC35752
AAH15831
BAG36108
BAH13443
EAW65358
EAW65359
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