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APTX

Description aprataxin
Image
GO Annotations Cellular Component
  • 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
  • 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 18 interacting genes: CALCOCO1 CEP350 CNTROB FLAD1 HIVEP1 MAPKBP1 MBP PARP1 PICK1 PNMA1 PNMA3 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?
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© Madhavi K. Ganapathiraju 2012-2025