Literature summary for 3.6.1.71 extracted from

Sano, Y.; Date, H.; Igarashi, S.; Onodera, O.; Oyake, M.; Takahashi, T.; Hayashi, S.; Morimatsu, M.; Takahashi, H.; Makifuchi, T.; Fukuhara, N.; Tsuji, S.
Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein (2004), Ann. Neurol., 55, 241-249.

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Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
nucleus	the first nuclear localization signal located near the amino terminus of the long-form aprataxin is essential for its nuclear localization	Homo sapiens	5634	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q7Z2E3	-	-

Synonyms

Synonyms	Comment	Organism
aprataxin	-	Homo sapiens
APTX	-	Homo sapiens

Expression

Organism	Comment	Expression
Homo sapiens	of the two splicing variants of APTX mRNA, the short and the long forms, long-form APTX mRNA is the major isoform	additional information

General Information

General Information	Comment	Organism
physiological function	the long-form but not the short-form aprataxin interacts with x-ray repair cross-complementing group XRCC1. Aprataxin and XRCC1 may constitute a multiprotein complex and are involved in single-strand DNA break repair	Homo sapiens

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Release 2023.1 (January 2023)