Showing entry for Aprataxin


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT017246
Protein NameAprataxin
Uniport IdQ7Z2E3
GeneAPTX
Gene Id54840
DomainDcpS_C; FHA_2; zf-C2HE
Pfam PF17913   PF16278  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006974 cellular response to DNA damage stimulus
Biological Process GO:0006266 DNA ligation
Biological Process GO:0006302 double-strand break repair
Biological Process GO:0031647 regulation of protein stability
Biological Process GO:0042542 response to hydrogen peroxide
Biological Process GO:0000012 single strand break repair
molecular function GO:0003682 chromatin binding
molecular function GO:0003684 damaged DNA binding
molecular function GO:0033699 DNA 5'-adenosine monophosphate hydrolase activity
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:0047485 protein N-terminus binding
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
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002736 BXGD000127 Amyotrophic Lateral Sclerosis Nutritional and Metabolic Diseases; Nervous System Diseases
C0003635 BXGD000214 Apraxias Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004135 BXGD000257 Ataxia Telangiectasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
C0004158 BXGD000261 Athetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007847 BXGD000492 Malignant tumor of cervix Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0008489 BXGD000546 Chorea Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013384 BXGD000826 Dyskinetic syndrome Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0016719 BXGD001074 Friedreich Ataxia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0020443 BXGD001385 Hypercholesterolemia Nutritional and Metabolic Diseases
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0024814 BXGD001809 Marinesco-Sjogren syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0031117 BXGD002285 Peripheral Neuropathy Nervous System Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0040485 BXGD002871 Torticollis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085624 BXGD003211 Burning sensation Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0087012 BXGD003318 Ataxia, Spinocerebellar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162674 BXGD003973 Chronic progressive external ophthalmoplegia Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0231341 BXGD004492 Premature aging syndrome Pathological Conditions, Signs and Symptoms
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235025 BXGD004713 Peripheral motor neuropathy Nervous System Diseases
C0239981 BXGD005011 Hypoalbuminemia Hemic and Lymphatic Diseases
C0270921 BXGD006133 Axonal neuropathy Nervous System Diseases
C0271270 BXGD006178 Oculovestibuloauditory syndrome Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
C0271390 BXGD006198 Nystagmus, End-Position
C0280483 BXGD006750 Adult Anaplastic Astrocytoma Neoplasms
C0280790 BXGD006763 Adult Anaplastic Oligodendroglioma Neoplasms
C0302592 BXGD006851 Cervix carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0334579 BXGD007120 Anaplastic astrocytoma Neoplasms
C0334590 BXGD007129 Anaplastic Oligodendroglioma Neoplasms
C0338508 BXGD007196 Optic Atrophy 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0393519 BXGD008078 Cerebellar Ataxia, Early Onset Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393571 BXGD008094 Multiple System Atrophy Nervous System Diseases
C0393593 BXGD008103 Dystonia Disorders Nervous System Diseases
C0423082 BXGD008468 Hypometric saccades
C0427190 BXGD008611 Ataxia, Truncal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0431108 BXGD008657 Anaplastic Oligoastrocytoma Neoplasms
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0543874 BXGD009299 Apraxia, oculomotor, Cogan type Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0598589 BXGD009667 Inherited neuropathies Nervous System Diseases
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0740279 BXGD009973 Cerebellar atrophy
C0750937 BXGD010259 Ataxia, Appendicular Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0751837 BXGD010604 Gait Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0852996 BXGD010960 Progressive cerebellar degeneration
C1112256 BXGD011655 Sensorimotor neuropathy
C1270972 BXGD012006 Mild cognitive disorder Mental Disorders
C1332943 BXGD012559 Childhood Anaplastic Oligodendroglioma Neoplasms
C1629609 BXGD013479 Age at menopause
C1835265 BXGD014022 Lymphedema, microcephaly and chorioretinopathy syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C1837496 BXGD014240 Axonal degeneration
C1843920 BXGD014619 COENZYME Q10 DEFICIENCY Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C1844562 BXGD014645 Medial flaring of the eyebrow
C1846574 BXGD014830 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1847584 BXGD014876 Distal sensory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1848533 BXGD014936 Ataxia with vitamin E deficiency Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases
C1848736 BXGD014970 Distal amyotrophy
C1849140 BXGD015011 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1853761 BXGD015359 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1854369 BXGD015394 Spinocerebellar ataxia 14 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1858391 BXGD015787 ATAXIA-TELANGIECTASIA-LIKE DISORDER Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
C1859598 BXGD015913 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
C1859606 BXGD015914 Decreased number of large peripheral myelinated nerve fibers
C1866934 BXGD016427 Reduced tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3489733 BXGD018945 Oculomotor apraxia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
C3554690 BXGD019235 ATAXIA-OCULOMOTOR APRAXIA 3
C3899676 BXGD020099 Childhood Anaplastic Oligoastrocytoma
C4012790 BXGD020123 Ataxia-Telangiectasisa-Like Disorder 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
C4025830 BXGD021816 Peripheral axonal degeneration
C4048328 BXGD021903 cervical cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4275170 BXGD022367 Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
C4551548 BXGD023342 Grade III Childhood Astrocytoma Neoplasms
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0024261 Adenosine Phosphate 347.06
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein