MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
3.6.1.71	Hydrolases; Acting on acid anhydrides; In phosphorus-containing anhydrides; adenosine-5′-diphospho-5′-[DNA] diphosphatase
3.6.1.72	Hydrolases; Acting on acid anhydrides; In phosphorus-containing anhydrides; DNA-3′-diphospho-5′-guanosine diphosphatase

Structure

PDB	Resolution (Å)	PDB name
3KT9	1.65	Aprataxin FHA Domain
4NDF	1.944	Human Aprataxin (Aptx) bound to RNA-DNA, AMP, and Zn - product complex
4NDG	2.541	Human Aprataxin (Aptx) bound to RNA-DNA and Zn - adenosine vanadate transition state mimic complex
4NDH	1.848	Human Aprataxin (Aptx) bound to DNA, AMP, and Zn - product complex
4NDI	1.9	Human Aprataxin (Aptx) AOA1 variant K197Q bound to RNA-DNA, AMP, and Zn - product complex
6CVO	2.4	Human Aprataxin (Aptx) bound to nicked RNA-DNA, AMP and Zn product complex
6CVP	1.999	Human Aprataxin (Aptx) R199H bound to RNA-DNA, AMP and Zn product complex
6CVQ	1.65	Human Aprataxin (Aptx) H201Q bound to RNA-DNA, AMP and Zn product complex
6CVR	1.88	Human Aprataxin (Aptx) S242N bound to RNA-DNA, AMP and Zn product complex
6CVS	2.11	Human Aprataxin (Aptx) L248M bound to DNA, AMP and Zn product
6CVT	2.941	Human Aprataxin (Aptx) V263G bound to RNA-DNA, AMP and Zn product complex

GO term

GO ontology	GO term	GO description
Biological Process	GO:0006266	DNA ligation
Biological Process	GO:0031647	regulation of protein stability
Biological Process	GO:0000012	single strand break repair
Molecular Function	GO:0033699	DNA 5'-adenosine monophosphate hydrolase activity
Molecular Function	GO:0120108	DNA-3'-diphospho-5'-guanosine diphosphatase
Molecular Function	GO:0003682	chromatin binding
Molecular Function	GO:0003684	damaged DNA binding
Molecular Function	GO:0003690	double-stranded DNA binding
Molecular Function	GO:0003725	double-stranded RNA binding
Molecular Function	GO:0046872	metal ion binding
Molecular Function	GO:0030983	mismatched DNA binding
Molecular Function	GO:0008967	phosphoglycolate phosphatase activity
Molecular Function	GO:0051219	phosphoprotein binding
Molecular Function	GO:0046403	polynucleotide 3'-phosphatase activity
Molecular Function	GO:1990165	single-strand break-containing DNA binding
Molecular Function	GO:0003697	single-stranded DNA binding
Cellular Component	GO:0000785	chromatin
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005730	nucleolus
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus

InterPro / Pfam

InterPro	InterPro name
IPR008984	SMAD/FHA domain superfamily
IPR011146	HIT-like domain
IPR013087	Zinc finger C2H2-type
IPR019808	Histidine triad, conserved site
IPR032566	Aprataxin, C2HE/C2H2/C2HC zinc finger
IPR036265	HIT-like superfamily
IPR041388	PNK, FHA domain
IPR047289	Aprataxin, forkhead associated domain

Pfam	Pfam name
PF11969	Scavenger mRNA decapping enzyme C-term binding
PF16278	C2HE / C2H2 / C2HC zinc-binding finger
PF17913	FHA domain

Reactome

Subcellular location

Location	ECO term	Pubmed
Cytoplasm	ECO:0000269	PubMed:15276230
Nucleus, nucleolus	ECO:0000269	PubMed:15044383
Nucleus, nucleolus	ECO:0000269	PubMed:16777843
Nucleus, nucleoplasm	ECO:0000269	PubMed:14755728
Nucleus, nucleoplasm	ECO:0000269	PubMed:15044383
Nucleus, nucleoplasm	ECO:0000269	PubMed:15276230
Nucleus, nucleoplasm	ECO:0000269	PubMed:15380105

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000007	Autosomal recessive inheritance
HP:0000571	Hypometric saccades
HP:0000590	Progressive external ophthalmoplegia
HP:0000640	Gaze-evoked nystagmus
HP:0000657	Oculomotor apraxia
HP:0000707	Abnormality of the nervous system
HP:0000726	Dementia
HP:0000764	Peripheral axonal degeneration
HP:0001251	Ataxia
HP:0001260	Dysarthria
HP:0001265	Hyporeflexia
HP:0001268	Mental deterioration
HP:0001272	Cerebellar atrophy
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001324	Muscle weakness
HP:0001332	Dystonia
HP:0001337	Tremor
HP:0001761	Pes cavus
HP:0002066	Gait ataxia
HP:0002070	Limb ataxia
HP:0002072	Chorea
HP:0002078	Truncal ataxia
HP:0002505	Loss of ambulation
HP:0002650	Scoliosis
HP:0002936	Distal sensory impairment
HP:0003073	Hypoalbuminemia
HP:0003124	Hypercholesterolemia
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003387	Decreased number of large peripheral myelinated nerve fibers
HP:0003581	Adult onset
HP:0003621	Juvenile onset
HP:0003693	Distal amyotrophy
HP:0006886	Impaired distal vibration sensation
HP:0009830	Peripheral neuropathy
HP:0010747	Medial flaring of the eyebrow
HP:0011463	Childhood onset
HP:0033051	Impaired executive functioning
HP:0040078	Axonal degeneration
HP:0100543	Cognitive impairment

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Low	Supported
adrenal gland	glandular cells	High	Supported
appendix	glandular cells	High	Supported
appendix	lymphoid tissue	Medium	Supported
bone marrow	hematopoietic cells	Medium	Supported
breast	adipocytes	High	Supported
breast	glandular cells	Medium	Supported
breast	myoepithelial cells	Medium	Supported
bronchus	respiratory epithelial cells	High	Supported
caudate	glial cells	Low	Supported
caudate	neuronal cells	Medium	Supported
cerebellum	Purkinje cells	Medium	Supported
cerebellum	cells in granular layer	High	Supported
cerebellum	cells in molecular layer	Medium	Supported
cerebral cortex	endothelial cells	Medium	Supported
cerebral cortex	glial cells	Medium	Supported
cerebral cortex	neuronal cells	High	Supported
cervix	glandular cells	High	Supported
cervix	squamous epithelial cells	High	Supported
colon	endothelial cells	Medium	Supported
colon	glandular cells	Medium	Supported
duodenum	glandular cells	High	Supported
endometrium 1	cells in endometrial stroma	High	Supported
endometrium 1	glandular cells	High	Supported
endometrium 2	cells in endometrial stroma	Medium	Supported
endometrium 2	glandular cells	High	Supported
epididymis	glandular cells	High	Supported
esophagus	squamous epithelial cells	High	Supported
fallopian tube	glandular cells	Medium	Supported
gallbladder	glandular cells	High	Supported
heart muscle	cardiomyocytes	High	Supported
hippocampus	glial cells	Medium	Supported
hippocampus	neuronal cells	Medium	Supported
kidney	cells in glomeruli	Medium	Supported
kidney	cells in tubules	High	Supported
liver	cholangiocytes	Medium	Supported
liver	hepatocytes	Medium	Supported
lung	alveolar cells type I	High	Supported
lung	alveolar cells type II	High	Supported
lung	macrophages	Medium	Supported
lymph node	germinal center cells	Medium	Supported
lymph node	non-germinal center cells	Medium	Supported
nasopharynx	respiratory epithelial cells	High	Supported
oral mucosa	squamous epithelial cells	High	Supported
ovary	ovarian stroma cells	Medium	Supported
pancreas	exocrine glandular cells	High	Supported
pancreas	pancreatic endocrine cells	Medium	Supported
parathyroid gland	glandular cells	Medium	Supported
placenta	decidual cells	High	Supported
placenta	trophoblastic cells	High	Supported
prostate	glandular cells	Medium	Supported
rectum	glandular cells	High	Supported
salivary gland	glandular cells	High	Supported
seminal vesicle	glandular cells	Medium	Supported
skeletal muscle	myocytes	Medium	Supported
skin 1	cells in basal layer	High	Supported
skin 1	cells in granular layer	High	Supported
skin 1	cells in spinous layer	High	Supported
skin 1	endothelial cells	High	Supported
skin 1	fibrohistiocytic cells	Medium	Supported
skin 1	langerhans cells	High	Supported
skin 1	lymphocytes	High	Supported
skin 1	melanocytes	High	Supported
skin 1	sebaceous glands	High	Supported
skin 2	cells in basal layer	High	Supported
skin 2	cells in corneal layer	High	Supported
skin 2	cells in granular layer	High	Supported
skin 2	cells in spinous layer	High	Supported
skin 2	endothelial cells	High	Supported
skin 2	fibrohistiocytic cells	Medium	Supported
skin 2	langerhans cells	High	Supported
skin 2	lymphocytes	High	Supported
skin 2	melanocytes	High	Supported
small intestine	glandular cells	High	Supported
smooth muscle	smooth muscle cells	Medium	Supported
soft tissue 1	chondrocytes	Medium	Supported
spleen	cells in red pulp	Medium	Supported
spleen	cells in white pulp	Medium	Supported
stomach 1	glandular cells	High	Supported
stomach 2	glandular cells	High	Supported
testis	Leydig cells	High	Supported
testis	pachytene spermatocytes	High	Supported
testis	preleptotene spermatocytes	High	Supported
testis	round or early spermatids	High	Supported
testis	sertoli cells	Medium	Supported
testis	spermatogonia cells	High	Supported
thyroid gland	glandular cells	High	Supported
tonsil	germinal center cells	Medium	Supported
tonsil	non-germinal center cells	Medium	Supported
tonsil	squamous epithelial cells	High	Supported
urinary bladder	urothelial cells	High	Supported
vagina	squamous epithelial cells	High	Supported

Summary of Q7Z2E3

Gene: APTX, AXA1
Protein: Aprataxin

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q7Z2E3

Gene: APTX, AXA1 Protein: Aprataxin

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: APTX, AXA1
Protein: Aprataxin