Property Summary

NCBI Gene PubMed Count 27
PubMed Score 52.24
PubTator Score 33.71

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P49184 D3DWW7 Q5HY41
Symbols XIB
G4.8
DNL1L
DNASEX
DNAS1L1

Gene

Gene RIF (8)

PMID Text
24329527 genotyping of all 21 nonsynonymous DNase 1L1 SNPs was performed in 16 populations representing 3 ethnic groups; 2 activity-abolishing and 4 activity-reducing SNPs were confirmed to be functional; may be plausible that a minor allele of 6 SNPs producing a loss-of-function or low-activity variant could serve as a risk factor for disease
24304513 DNASEX and TKTL1 detection in patient blood is associated with poor disease-free survival rate in oral squamous cell carcinoma.
24098122 Yeast two-hybrid screening revealed that DNase X, a glycosylphosphatidyl inositol-anchored mammalian cell-surface protein binds EtpE-C.
20967767 Several SNPs in the deoxyribonuclease I-like 1 (DNase 1L1) and DNase 1L2 were investigated.
20967767 Observational study of genotype prevalence. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20503202 Genotyping of all the non-synonymous SNPs of was performed in three ethnic groups including six different populations using the PCR-RFLP method newly developed.
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MHYPTALLFLILANGAQAFRICAFNAQRLTLAKVAREQVMDTLVRILARCDIMVLQEVVDSSGSAIPLLL      1 - 70
RELNRFDGSGPYSTLSSPQLGRSTYMETYVYFYRSHKTQVLSSYVYNDEDDVFAREPFVAQFSLPSNVLP     71 - 140
SLVLVPLHTTPKAVEKELNALYDVFLEVSQHWQSKDVILLGDFNADCASLTKKRLDKLELRTEPGFHWVI    141 - 210
ADGEDTTVRASTHCTYDRVVLHGERCRSLLHTAAAFDFPTSFQLTEEEALNISDHYPVEVELKLSQAHSV    211 - 280
QPLSLTVLLLLSLLSPQLCPAA                                                    281 - 302
//

Text Mined References (27)

PMID Year Title
24329527 2014 Evaluation of all nonsynonymous single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 1, possibly implicated in the blocking of endocytosis-mediated foreign gene transfer.
24304513 2013 A biomarker based detection and characterization of carcinomas exploiting two fundamental biophysical mechanisms in mammalian cells.
24098122 2013 Ehrlichia chaffeensis uses its surface protein EtpE to bind GPI-anchored protein DNase X and trigger entry into mammalian cells.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
20967767 2010 Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20503202 2010 Genetic and expression analysis of all non-synonymous single nucleotide polymorphisms in the human deoxyribonuclease I-like 1 and 2 genes.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
17180083 1996 Isolation, differential splicing and protein expression of a DNase on the human X chromosome.
16569403 2006 Frequency of the deletion polymorphism of DNASE1L1 in 137 patients with acid maltase deficiency (Pompe disease).
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