Literature summary for 3.6.1.71 extracted from

Gueven, N.; Becherel, O.J.; Kijas, A.W.; Chen, P.; Howe, O.; Rudolph, J.H.; Gatti, R.; Date, H.; Onodera, O.; Taucher-Scholz, G.; Lavin, M.F.
Aprataxin, a novel protein that protects against genotoxic stress (2004), Hum. Mol. Genet., 13, 1081-1093.

Search for more literature for 3.6.1.71

Application

Application	Comment	Organism
medicine	ataxia-oculomotor apraxia, AOA1, is a neurological disorder with symptoms that overlap those of ataxiatelangiectasia, characterized by abnormal responses to double-strand DNA breaks and genome instability. The gene mutated in AOA1, APTX, codes for aprataxin which contains domains of homology with proteins involved in DNA damage signalling and repair. Cells from AOA1 show enhanced sensitivity to agents that cause single-strand breaks in DNA but there is no evidence for a gross defect in single-strand break repair	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
nucleolus	-	Homo sapiens	5730	-
nucleoplasm	-	Homo sapiens	5654	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q7Z2E3	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
lymphoblastoid cell	-	Homo sapiens	-

General Information

General Information	Comment	Organism
physiological function	aprataxin interacts with the repair proteins XRCC1, PARP-1 and p53 and colocalizes with XRCC1 along charged particle tracks on chromatin	Homo sapiens

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Release 2023.1 (January 2023)