Literature summary for 4.2.99.18 extracted from

Madlener, S.; Stroebel, T.; Vose, S.; Saydam, O.; Price, B.D.; Demple, B.; Saydam, N.
Essential role for mammalian apurinic/apyrimidinic (AP) endonuclease Ape1/Ref-1 in telomere maintenance (2013), Proc. Natl. Acad. Sci. USA, 110, 17844-17849.

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Protein Variants

Protein Variants	Comment	Organism
C65S	mutation targeting the Ref-1 redox functions. Mutant form is detected in cytoplasmic vesicles indicating altered turnover. The endonuclease domain of Ape1 is required for successful mitotic progression	Homo sapiens
K6A/K7A	mutation targeting the gene regulation function. Mutant shows a diffuse nuclear staining, with a minimal localization in nucleoli. Mutant produces mitotic defects in Ape1-depleted cells, particularly promoting the formation of binucleated cells. Expression of the mutant protein increases the frequency of end-to-end fusions	Homo sapiens
N212A	mutation targeting the endonuclease function. Mutant shows mainly nuclear staining, with a focal accumulation in nucleoli. Expression of the mutant protein increases the frequency of end-to-end fusions	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P27695	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
U2-OS cell	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
APE1/Ref-1	-	Homo sapiens

General Information

General Information	Comment	Organism
physiological function	isoform Ape1 is an essential factor stabilizing telomeric DNA, and its deficiency is associated with telomere dysfunction and segregation defects in immortalized cells maintaining telomeres by either the alternative lengthening of telomeres pathway or telomerase expression or in normal human fibroblasts	Homo sapiens

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Release 2023.1 (January 2023)