Literature summary for 3.6.1.70 extracted from

Becherel, O.J.; Gueven, N.; Birrell, G.W.; Schreiber, V.; Suraweera, A.; Jakob, B.; Taucher-Scholz, G.; Lavin, M.F.
Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription (2006), Hum. Mol. Genet., 15, 2239-2249.

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Application

Application	Comment	Organism
medicine	in cells from patients with ataxia with oculomotor apraxia type 1, AOA1, lacking aprataxin, the stability of nucleolin is significantly reduced	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
nucleolus	GFP-aprataxin fusion protein colocalizes with nucleolin, nucleophosmin and UBF-1 in nucleoli. Inhibition of ribosomal DNA transcription alters the distribution of aprataxin in the nucleolus. Down-regulation of nucleolin by RNA interference does not affect aprataxin protein levels but abolishes its nucleolar localization	Homo sapiens	5730	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q7Z2E3	-	-

General Information

General Information	Comment	Organism
physiological function	interaction between aprataxin and nucleolin occurs through their respective N-terminal regions. In cells from patients with ataxia with oculomotor apraxia type 1, AOA1, lacking aprataxin, the stability of nucleolin is significantly reduced. Down-regulation of nucleolin by RNA interference does not affect aprataxin protein levels but abolishes its nucleolar localization	Homo sapiens

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Release 2023.1 (January 2023)