Gene table of APTX : aprataxin

Gene-disease associations table

Disease IDDisease nameSource of annotation with APTXOMIM linkNumber of associated genesgenes
208920ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIAClinVar, OMIM, HUMSAVAR link to OMIM 1APTX

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Annotation of the gene APTX

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
exonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 5'-phosphomonoestersGO:00167965.89
phosphatase activityGO:00167914.11
GO:00089679.05
phosphoric ester hydrolase activityGO:00425783.82
polynucleotide phosphatase activityGO:00985188.35
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
5'-3' exodeoxyribonuclease activityGO:00353127.95
heterocyclic compound bindingGO:19013631.06
cation bindingGO:00431691.4
5'-3' exonuclease activityGO:00084097.25
exodeoxyribonuclease activityGO:00045296.79
exonuclease activityGO:00045275.33
ion bindingGO:00431671.36
double-stranded DNA bindingGO:00036903.09
metal ion bindingGO:00468721.41
hydrolase activityGO:00167871.9
polynucleotide 3'-phosphatase activityGO:00464039.05
hydrolase activity, acting on ester bondsGO:00167883.1
catalytic activityGO:00038241.05
exodeoxyribonuclease activity, producing 5'-phosphomonoestersGO:00168956.79
GO:00336999.74
protein N-terminus bindingGO:00474855.11
nuclease activityGO:00045184.33
organic cyclic compound bindingGO:00971591.05
phosphoprotein bindingGO:00512195.64
deoxyribonuclease activityGO:00045365.48
double-stranded RNA bindingGO:00037255.58
RNA bindingGO:00037232.36
protein bindingGO:00055150.46
chromatin bindingGO:00036823.64
damaged DNA bindingGO:00036845.58