APTX

Description		aprataxin
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GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Nucleolus Cytoplasm
	Molecular Function	DNA Binding Chromatin Binding Damaged DNA Binding Double-stranded DNA Binding Single-stranded DNA Binding Double-stranded RNA Binding Catalytic Activity Protein Binding Zinc Ion Binding Phosphoglycolate Phosphatase Activity Hydrolase Activity Mismatched DNA Binding DNA 5'-adenosine Monophosphate Hydrolase Activity Polynucleotide 3'-phosphatase Activity Metal Ion Binding Phosphoprotein Binding DNA-3'-diphospho-5'-guanosine Diphosphatase Single-strand Break-containing DNA Binding
	Biological Process	Single Strand Break Repair DNA Repair DNA Damage Response Regulation Of Protein Stability
Pathways
Drugs
Diseases		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) Coenzyme Q10 deficiency
GWAS		Height ( 28552196) Menopause (age at onset) ( 26414677)
Novel Interacting Genes		18 novel interacting genes: CALCOCO1 CEP350 CNTROB FLAD1 HIVEP1 MAPKBP1 MBP PARP1 PICK1 PNMA1 PNMA3 SYT17 TP53 TRIM37 TSPYL2 XRCC1 XRCC4 ZNF639
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		A0A5K1VW64 Q7Z2E3
PDB IDs		3KT9 4NDF 4NDG 4NDH 4NDI 6CVO 6CVP 6CVQ 6CVR 6CVS 6CVT
Enriched GO Terms of Interacting Partners?		Negative Regulation Of Telomere Maintenance Regulation Of Base-excision Repair Negative Regulation Of DNA Metabolic Process Mitochondrial DNA Repair Nucleolus Enzyme Binding Positive Regulation Of Programmed Necrotic Cell Death Regulation Of Cellular Component Organization Double-strand Break Repair Negative Regulation Of Chromosome Organization Chromatin Binding Site Of Double-strand Break Mitochondrial DNA Metabolic Process Regulation Of Telomere Maintenance Regulation Of Catalytic Activity Protein Localization To Organelle Negative Regulation Of Telomere Maintenance Via Telomere Lengthening Response To Ionizing Radiation Protein Localization To Site Of Double-strand Break Response To X-ray Negative Regulation Of DNA Replication NAD+-histone H3S10 Serine ADP-ribosyltransferase Activity Regulation Of Programmed Necrotic Cell Death NAD+-histone H2BS6 Serine ADP-ribosyltransferase Activity Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway Cell Surface Receptor Protein Serine/threonine Kinase Signaling Pathway Negative Regulation Of Nucleobase-containing Compound Metabolic Process Site Of DNA Damage NAD+-histone H2BE35 Glutamate ADP-ribosyltransferase Activity Regulation Of Organelle Organization Negative Regulation Of Cellular Component Organization NAD+-protein-histidine ADP-ribosyltransferase Activity NAD+-protein-tyrosine ADP-ribosyltransferase Activity Positive Regulation Of Metalloendopeptidase Activity Negative Regulation Of Helicase Activity Negative Regulation Of G1 To G0 Transition Regulation Of Cell Growth Base-excision Repair Oxidized DNA Binding FHA Domain Binding FMN Adenylyltransferase Activity FAD Biosynthetic Process FAD Diphosphatase Activity Cellular Response To Glucose Starvation Regulation Of Telomere Maintenance Via Telomere Lengthening Response To Gamma Radiation Regulation Of DNA Metabolic Process Positive Regulation Of Myofibroblast Differentiation NAD+-protein-serine ADP-ribosyltransferase Activity DNA Repair
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