Showing entry for Bifunctional polynucleotide phosphatase/kinase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019745
Protein NameBifunctional polynucleotide phosphatase/kinase
Uniport IdQ96T60
GenePNKP
Gene Id11284
DomainA_33; FHA_2; PNK3P
Pfam PF17913   PF08645  
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:0016311 dephosphorylation
Biological Process GO:0042769 DNA damage response, detection of DNA damage
Biological Process GO:0006261 DNA-dependent DNA replication
Biological Process GO:0006281 DNA repair
Biological Process GO:0010836 negative regulation of protein ADP-ribosylation
Biological Process GO:0000718 nucleotide-excision repair, DNA damage removal
Biological Process GO:0046939 nucleotide phosphorylation
Biological Process GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining
Biological Process GO:0051973 positive regulation of telomerase activity
Biological Process GO:1904355 positive regulation of telomere capping
Biological Process GO:0032212 positive regulation of telomere maintenance via telomerase
Biological Process GO:0006979 response to oxidative stress
Biological Process GO:0009314 response to radiation
molecular function GO:0005524 ATP binding
molecular function GO:0046404 ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity
molecular function GO:0003684 damaged DNA binding
molecular function GO:0003690 double-stranded DNA binding
molecular function GO:0004519 endonuclease activity
molecular function GO:0050145 nucleoside monophosphate kinase activity
molecular function GO:0046403 polynucleotide 3'-phosphatase activity
molecular function GO:0017076 purine nucleotide binding
cellular component GO:0016020 membrane
cellular component GO:0005739 mitochondrion
cellular component GO:0005730 nucleolus
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
Reactome
Pathway Id Pathway Name
R-HSA-5649702 APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
R-HSA-73884 Base Excision Repair
R-HSA-73894 DNA Repair
R-HSA-73933 Resolution of Abasic Sites (AP sites)
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001430 BXGD000054 Adenoma Neoplasms
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
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007102 BXGD000425 Malignant tumor of colon Digestive System Diseases; Neoplasms
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007959 BXGD000507 Charcot-Marie-Tooth Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009952 BXGD000639 Febrile Convulsions 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
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0020580 BXGD001435 Hypesthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0022333 BXGD001534 Jacksonian Seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0024408 BXGD001768 Machado-Joseph Disease 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
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026850 BXGD001942 Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0034013 BXGD002450 Precocious Puberty Endocrine System Diseases
C0034372 BXGD002480 Quadriplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037317 BXGD002689 Sleep disturbances Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0040822 BXGD002885 Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0041960 BXGD002943 Ureterocele Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085271 BXGD003148 Self-Injurious Behavior Behavior and Behavior Mechanisms
C0085583 BXGD003194 Choreoathetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085996 BXGD003260 Child Development Deviations Mental Disorders
C0085997 BXGD003261 Child Development Disorders, Specific Mental Disorders
C0087012 BXGD003318 Ataxia, Spinocerebellar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0149958 BXGD003395 Complex partial seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152025 BXGD003521 Polyneuropathy Nervous System Diseases
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234533 BXGD004687 Generalized seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234535 BXGD004688 Clonic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234649 BXGD004692 Abnormal saccadic eye movement
C0235831 BXGD004773 Renal Cell Dysplasia Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0239594 BXGD004987 Short finger
C0262404 BXGD005236 Cerebellar degeneration Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0262630 BXGD005262 Reduced concentration span Behavior and Behavior Mechanisms
C0265202 BXGD005461 Seckel syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0266483 BXGD005680 Pachygyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0268134 BXGD005830 DNA Repair-Deficiency Nutritional and Metabolic Diseases
C0270824 BXGD006113 Visual seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270844 BXGD006115 Tonic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270846 BXGD006116 Epileptic drop attack Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270921 BXGD006133 Axonal neuropathy Nervous System Diseases
C0271270 BXGD006178 Oculovestibuloauditory syndrome Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
C0280781 BXGD006758 Adult Pilocytic Astrocytoma Neoplasms
C0334583 BXGD007124 Pilocytic Astrocytoma Neoplasms
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0349620 BXGD007936 Pilocytic astrocytoma of cerebellum Neoplasms; Nervous System Diseases
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0393584 BXGD008099 Benign Hereditary Chorea Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0393706 BXGD008126 Early infantile epileptic encephalopathy with suppression bursts Nervous System Diseases
C0422850 BXGD008457 Seizures, Somatosensory Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0422852 BXGD008458 Seizures, Auditory Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0422853 BXGD008459 Olfactory seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0422854 BXGD008460 Gustatory seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0422855 BXGD008461 Vertiginous seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0431350 BXGD008668 Primary microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0476254 BXGD008984 Dyslexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0494475 BXGD009030 Tonic - clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0543888 BXGD009300 Epileptic encephalopathy Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0598275 BXGD009664 Diffuse cerebral atrophy Nervous System Diseases; Mental Disorders
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0684276 BXGD009793 Hypsarrhythmia Nervous System Diseases
C0699734 BXGD009860 Progressive chorea
C0699790 BXGD009866 Colon Carcinoma Digestive System Diseases; Neoplasms
C0700201 BXGD009880 Dyssomnias Nervous System Diseases; Mental Disorders
C0740279 BXGD009973 Cerebellar atrophy
C0751056 BXGD010306 Non-epileptic convulsion Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751110 BXGD010318 Single Seizure Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751123 BXGD010326 Atonic Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751494 BXGD010472 Convulsive Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751495 BXGD010473 Seizures, Focal Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751496 BXGD010474 Seizures, Sensory Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0851578 BXGD010925 Sleep Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0856975 BXGD011127 Autistic behavior Behavior and Behavior Mechanisms
C0869474 BXGD011306 Dyscalculia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C1096184 BXGD011607 West Nile viral infection Infections; Nervous System Diseases
C1112256 BXGD011655 Sensorimotor neuropathy
C1277241 BXGD012110 Delayed myelination Mental Disorders
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1332995 BXGD012575 Childhood Pilocytic Astrocytoma Neoplasms
C1387005 BXGD012953 Penis agenesis Male Urogenital Diseases
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1562113 BXGD013372 Fleck corneal dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1563696 BXGD013384 DNA Repair-Deficiency Disorders Nutritional and Metabolic Diseases
C1563697 BXGD013385 Chromosome Instability Syndromes Nutritional and Metabolic Diseases
C1720189 BXGD013668 Episodic Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836450 BXGD014117 Distal lower limb muscle weakness
C1836508 BXGD014124 Generalized tonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1836542 BXGD014129 Depressed nasal bridge
C1836830 BXGD014165 Developmental regression Mental Disorders
C1838681 BXGD014337 Rapidly progressive
C1840077 BXGD014434 Anteverted nostril
C1843921 BXGD014620 Postural instability Nervous System Diseases
C1844548 BXGD014642 Hypoplastic finger
C1844906 BXGD014692 Broad finger
C1850456 BXGD015146 Progressive microcephaly
C1853761 BXGD015359 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1854150 BXGD015384 Charcot-Marie-Tooth disease, Type 2B2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1854301 BXGD015391 Motor delay Mental Disorders
C1857679 BXGD015735 Sloping forehead
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System 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
C1860834 BXGD016006 Infantile muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1956147 BXGD016622 Microlissencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1969156 BXGD016761 EEG with burst suppression
C2674738 BXGD017258 Abnormality of toe Musculoskeletal Diseases
C2677180 BXGD017366 Congenital microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C2749675 BXGD017631 Cortical gyral simplification
C3150667 BXGD018320 MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
C3150988 BXGD018370 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3278923 BXGD018748 Dilated ventricles (finding)
C3489733 BXGD018945 Oculomotor apraxia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
C3495874 BXGD019008 Nonepileptic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3536714 BXGD019069 Renal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3853041 BXGD019819 Severe Congenital Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C4022849 BXGD021012 Absent thumbnail
C4023484 BXGD021201 Uni- and bilateral multifocal epileptiform discharges
C4023499 BXGD021204 Generalized clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4023683 BXGD021240 EEG with spike-wave complexes
C4023986 BXGD021282 Broad phalanx of the toes
C4024613 BXGD021344 Progressive distal muscular atrophy
C4024923 BXGD021476 Diffuse white matter abnormalities Pathological Conditions, Signs and Symptoms
C4048158 BXGD021890 Convulsions Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4049830 BXGD021953 Focal seizures, afebril Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4225397 BXGD022260 ATAXIA-OCULOMOTOR APRAXIA 4
C4316903 BXGD022711 Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317109 BXGD022725 Epileptic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317123 BXGD022727 Myoclonic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4505436 BXGD022962 Generalized Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4553743 BXGD023548 Spasticity, CTCAE
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002586 Calcium 40.08
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