Property Summary

NCBI Gene PubMed Count 79
Grant Count 66
R01 Count 37
Funding $8,158,526.79
PubMed Score 351.28
PubTator Score 526.76

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P24855 B4DV35 Q14UU9 Q14UV0
Symbols DNL1
DRNI

Gene

PDB

4AWN  

Gene RIF (59)

PMID Text
26547219 in Iranians the 3/6 genotype frequency was significantly higher in systemic lupus erythematosus patients than in healthy controls which implies the possible role of this genotype in SLE susceptibility; the 3/4 and 4/6 genotype frequencies were remarkably high in the control group which indicated the protective role of these genotypes against the disease
26393465 Val66Met in the BDNF gene and two SNPs, Fokl and Apal, in the VDR gene may potentially be associated with DED. Additionally, the association between DED and Val66Met may vary by depression status.
26065428 TNF-alpha amplifies DNaseI expression in renal tubular cells while IL-1beta promotes nuclear DNaseI translocation in inactive form in lupus nephritis.
25771153 HumDN1 polymorphisms were examined in blood of 11 worldwide populations by polymerase chain reaction. 15 genotypes were found leading to the conclusion that HumDN1 variable no. tandem repeats are ethnic group specific.
24819173 Characterization of the nonsynonymous single-nucleotide polymorphism variants of human DNASE1.
24676545 In conclusion, elevated DNase I in diabetes may be related to pancreatic injury and could be one of the causes that induce diabetes.
24564745 Our results indicate that increased DNASE1 expression is common to both SLE and RA, while DNase1 reduction activity is specific to SLE.
24206041 Single nucleotide polymorphisms in the DNASE1 is associated with autoimmune diseases.
23963431 DNAse I Q222R polymorphism is a potential genetic risk factor for systemic lupus erythematosus in South Indian Tamils. In addition, the mutant allele confers a significant risk for lupus nephritis.
23273922 Early mesangial nephritis initiates a cascade of inflammatory signals that lead to up-regulation of Trap1 and a consequent down-regulation of renal DNaseI by transcriptional interference.
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AA Sequence

MRGMKLLGALLALAALLQGAVSLKIAAFNIQTFGETKMSNATLVSYIVQILSRYDIALVQEVRDSHLTAV      1 - 70
GKLLDNLNQDAPDTYHYVVSEPLGRNSYKERYLFVYRPDQVSAVDSYYYDDGCEPCGNDTFNREPAIVRF     71 - 140
FSRFTEVREFAIVPLHAAPGDAVAEIDALYDVYLDVQEKWGLEDVMLMGDFNAGCSYVRPSQWSSIRLWT    141 - 210
SPTFQWLIPDSADTTATPTHCAYDRIVVAGMLLRGAVVPDSALPFNFQAAYGLSDQLAQAISDHYPVEVM    211 - 280
LK                                                                        281 - 282
//

Text Mined References (79)

PMID Year Title
26547219 2016 Deoxyribonuclease I gene polymorphism and susceptibility to systemic lupus erythematosus.
26393465 2015 Single Nucleotide Polymorphisms in the BDNF, VDR, and DNASE 1 Genes in Dry Eye Disease Patients: A Case-Control Study.
26065428 2015 TNF? Amplifies DNaseI Expression in Renal Tubular Cells while IL-1? Promotes Nuclear DNaseI Translocation in an Endonuclease-Inactive Form.
25771153 2015 Global analysis of genetic variations in a 56-bp variable number of tandem repeat polymorphisms within the human deoxyribonuclease I gene.
24819173 2014 Identification of the functional alleles of the nonsynonymous single-nucleotide polymorphisms potentially implicated in systemic lupus erythematosus in the human deoxyribonuclease I gene.
24676545 2014 Increased DNase I activity in diabetes might be associated with injury of pancreas.
24564745 2014 Influence of HumDN1 VNTR polymorphism on DNASE1 expression in systemic lupus erythematosus and rheumatoid arthritis.
24206041 2014 Evaluation of all non-synonymous single nucleotide polymorphisms (SNPs) in the genes encoding human deoxyribonuclease I and I-like 3 as a functional SNP potentially implicated in autoimmunity.
23963431 2013 Q222R polymorphism in DNAse I gene is a risk factor for nephritis in South Indian SLE patients.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
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