InnateDB Protein
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IDBP-12229.5
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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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DNASE1
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Protein Name
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deoxyribonuclease I
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Synonyms
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DNL1; DRNI;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000246949
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InnateDB Gene
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IDBG-236686 (DNASE1)
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Protein Structure
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Function |
Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization (By similarity). {ECO:0000250}.
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Subcellular Localization |
Secreted. Nucleus envelope. Note=Secretory protein, stored in zymogen granules and found in the nuclear envelope.
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Disease Associations |
Systemic lupus erythematosus (SLE) [MIM:152700]: 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:11479590}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
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Tissue Specificity |
Principally in tissues of the digestive system. Highest levels found in urine, but also relatively abundant in semen and saliva.
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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 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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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 |
P24855
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PhosphoSite |
PhosphoSite-P24855
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1773
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UniGene |
Hs.733045
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RefSeq |
NP_005214
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HUGO |
HGNC:2956
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OMIM |
125505
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CCDS |
CCDS10507
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HPRD |
00509
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IMGT |
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EMBL |
AB188151
AB188152
AC005203
AJ298844
BC029437
CH471112
D83195
M55983
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GenPept |
AAA63170
AAC24721
AAH29437
BAA11841
BAE96964
BAE96965
CAC12813
EAW85344
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