NEIL1 Q282TER does not translocate to the nucleus

Stable Identifier
R-HSA-9629917
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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NEIL1 Q282TER does not translocate to the nucleus
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A rare NEIL1 variant reported in the Japanese population results in a truncated NEIL1 protein, NEIL1 Q282TER, which lacks the putative nuclear localization signal (NLS). NEIL1 Q282TER localizes to the cytosol and, due to this mislocalization, is not able to access damaged DNA substrates. Several NEIL truncation mutations that remove the NLS have been reported in different cancer types and correlate with increased mutational loads, but they have not been functionally studied. NEIL1 Q282TER has not yet been associated with any specific cancer type or cancer predisposition, but is the only functionally studied NEIL1 truncation mutant that lacks the NLS (Shinmura et al. 2015).
Literature References
PubMed ID Title Journal Year
26095805 NEIL1 p.Gln282Stop variant is predominantly localized in the cytoplasm and exhibits reduced activity in suppressing mutations

Shinmura, K, Kato, H, Kawanishi, Y, Goto, M, Tao, H, Inoue, Y, Nakamura, S, Sugimura, H

Gene 2015
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as an event of
Normal reaction
NEIL1 translocates to the nucleus (Homo sapiens)
Functional status

Loss of function of NEIL1 Q282TER [cytosol]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Cross References
Mondo
Authored
Orlic-Milacic, M  (2018-11-27)
Reviewed
Sampath, H  (2019-01-03)
Created
Orlic-Milacic, M  (2018-11-26)
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