APTX

Description		aprataxin
Image
GO Annotations	Cellular Component	Chromatin Nuclear Chromatin Nucleus Nucleoplasm Nucleolus Cytoplasm
	Molecular Function	Chromatin Binding Damaged DNA Binding Double-stranded DNA Binding Single-stranded DNA Binding Double-stranded RNA Binding Protein Binding Phosphoglycolate Phosphatase Activity Mismatched DNA Binding DNA 5'-adenosine Monophosphate Hydrolase Activity Metal Ion Binding Protein N-terminus Binding Phosphoprotein Binding DNA-3'-diphospho-5'-guanosine Diphosphatase Single-strand Break-containing DNA Binding
	Biological Process	Single Strand Break Repair DNA Ligation Double-strand Break Repair Cellular Response To DNA Damage Stimulus Dephosphorylation Regulation Of Protein Stability Response To Hydrogen Peroxide Nucleic Acid Phosphodiester Bond Hydrolysis
Pathways
Drugs
Diseases		Coenzyme Q10 deficiency Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
GWAS		Height ( 28552196) Menopause (age at onset) ( 26414677)
Interacting Genes		16 interacting genes: CALCOCO1 CEP350 CNTROB HIVEP1 MAPKBP1 MBP PARP1 PICK1 PNMA1 SYT17 TP53 TRIM37 TSPYL2 XRCC1 XRCC4 ZNF639
Entrez ID		54840
HPRD ID		05892
Ensembl ID		ENSG00000137074
Uniprot IDs		Q7Z2E3
PDB IDs		3KT9 4NDF 4NDG 4NDH 4NDI 6CVO 6CVP 6CVQ 6CVR 6CVS 6CVT
Enriched GO Terms of Interacting Partners?
Tagcloud ?