Showing entry for Ribose-phosphate pyrophosphokinase 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT011337
Protein NameRibose-phosphate pyrophosphokinase 1
Uniport IdP60891
GenePRPS1
Gene Id5631
DomainPribosyltran_N; Pribosyl_synth
Pfam PF14572   PF13793  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.1 Carbohydrate metabolism hsa00030 Pentose phosphate pathway
1. Metabolism 1.4 Nucleotide metabolism hsa00230 Purine metabolism
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
1. Metabolism 1.0 Global and overview maps hsa01200 Carbon metabolism
1. Metabolism 1.0 Global and overview maps hsa01230 Biosynthesis of amino acids
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process
Biological Process GO:0046101 hypoxanthine biosynthetic process
Biological Process GO:0007399 nervous system development
Biological Process GO:0009116 nucleoside metabolic process
Biological Process GO:0009165 nucleotide biosynthetic process
Biological Process GO:0006144 purine nucleobase metabolic process
Biological Process GO:0006164 purine nucleotide biosynthetic process
Biological Process GO:0006221 pyrimidine nucleotide biosynthetic process
Biological Process GO:0009156 ribonucleoside monophosphate biosynthetic process
Biological Process GO:0034418 urate biosynthetic process
molecular function GO:0005524 ATP binding
molecular function GO:0042802 identical protein binding
molecular function GO:0016301 kinase activity
molecular function GO:0000287 magnesium ion binding
molecular function GO:0042803 protein homodimerization activity
molecular function GO:0004749 ribose phosphate diphosphokinase activity
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0002189 ribose phosphate diphosphokinase complex
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-71336 Pentose phosphate pathway
R-HSA-71387 Metabolism of carbohydrates
R-HSA-73843 5-Phosphoribose 1-diphosphate biosynthesis
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0004114 BXGD000255 Astrocytoma Neoplasms
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007097 BXGD000424 Carcinoma Neoplasms
C0007959 BXGD000507 Charcot-Marie-Tooth Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0009024 BXGD000578 Clonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009402 BXGD000605 Colorectal Carcinoma Digestive System Diseases; Neoplasms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011848 BXGD000750 Diabetes Insipidus Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0013132 BXGD000799 Drooling Stomatognathic Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015310 BXGD000976 Exotropia Eye Diseases; Nervous System Diseases
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0017636 BXGD001131 Glioblastoma Neoplasms
C0018099 BXGD001172 Gout Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0021051 BXGD001475 Immunologic Deficiency Syndromes Immune System Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023015 BXGD001601 Language Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0023449 BXGD001650 Acute lymphocytic leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023452 BXGD001651 Childhood Acute Lymphoblastic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029132 BXGD002117 Disorder of the optic nerve Eye Diseases; Nervous System Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0031117 BXGD002285 Peripheral Neuropathy Nervous System Diseases
C0033300 BXGD002403 Progeria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0034372 BXGD002480 Quadriplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0034935 BXGD002497 Babinski Reflex
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035243 BXGD002522 Respiratory Tract Infections Infections; Respiratory Tract Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; 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
C0043094 BXGD003026 Weight Gain Pathological Conditions, Signs and Symptoms
C0151313 BXGD003413 Sensory neuropathy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0152025 BXGD003521 Polyneuropathy Nervous System Diseases
C0162429 BXGD003942 Malnutrition Nutritional and Metabolic Diseases
C0221166 BXGD004397 Paraparesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0221358 BXGD004450 Long narrow head
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0239234 BXGD004974 Low set ears
C0239998 BXGD005012 Recurrent infections Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
C0240421 BXGD005037 Progressive muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0267952 BXGD005794 Fibrosis of pancreas Digestive System Diseases
C0270612 BXGD006081 Leukoencephalopathy Nervous System Diseases
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0349588 BXGD007933 Short stature
C0392553 BXGD008055 Hereditary peripheral neuropathy Nervous System Diseases
C0403719 BXGD008307 Uric acid urolithiasis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0427065 BXGD008604 Distal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0432072 BXGD008718 Dysmorphic features
C0442874 BXGD008814 Neuropathy Nervous System Diseases
C0456070 BXGD008863 Growth delay
C0494475 BXGD009030 Tonic - clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0520680 BXGD009102 Sleep Apnea, Central Respiratory Tract Diseases; Nervous System Diseases
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0554970 BXGD009428 Pallor of optic disc
C0557874 BXGD009444 Global developmental delay
C0558595 BXGD009457 Uric acid renal calculus Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0575059 BXGD009510 Spastic tetraparesis Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0581381 BXGD009567 Recurrent upper respiratory tract infection Infections; Respiratory Tract Diseases
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0694563 BXGD009854 Excessive daytime somnolence
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0740394 BXGD009989 Hyperuricemia Pathological Conditions, Signs and Symptoms
C0751606 BXGD010523 Adult Acute Lymphocytic Leukemia
C0796028 BXGD010782 ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0854723 BXGD011026 Retinal Dystrophies Eye Diseases
C0877008 BXGD011325 Enzyme inhibition disorder
C0948643 BXGD011545 Hyperuricosuria
C1277241 BXGD012110 Delayed myelination Mental Disorders
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1834055 BXGD013953 Underdeveloped nasal alae
C1837352 BXGD014223 Childhood onset
C1837522 BXGD014244 Impaired pain sensation
C1838391 BXGD014313 Limb hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1839364 BXGD014371 Progressive visual loss
C1839566 BXGD014387 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1839860 BXGD014419 Elevated amniotic fluid alpha-fetoprotein
C1842137 BXGD014497 Nonsyndromic sensorineural hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1843077 BXGD014553 Segmental peripheral demyelination/remyelination
C1844677 BXGD014659 DEAFNESS, X-LINKED 1 (disorder) Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
C1844678 BXGD014660 Progressive hearing loss stapes fixation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
C1845977 BXGD014769 X- linked recessive
C1846176 BXGD014791 Hyperactive deep tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1847906 BXGD014897 Onion bulb formation
C1848641 BXGD014955 Profound sensorineural hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1848736 BXGD014970 Distal amyotrophy
C1850069 BXGD015104 Undetectable visual evoked potentials
C1852767 BXGD015296 Hereditary macular coloboma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C1853702 BXGD015352 Muscle mounding Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1853743 BXGD015358 Muscular hypotonia of the trunk Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1854301 BXGD015391 Motor delay Mental Disorders
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1855514 BXGD015505 Severe failure to thrive
C1856694 BXGD015632 Areflexia of lower limbs Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1857640 BXGD015726 Decreased nerve conduction velocity
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858430 BXGD015792 Death in infancy
C1859236 BXGD015867 Prolonged neonatal jaundice Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1861403 BXGD016045 Variable expressivity
C1866772 BXGD016424 Abnormal nerve conduction velocity
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C1970827 BXGD016845 Phosphoribosylpyrophosphate Synthetase Superactivity Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2265792 BXGD017012 Skeletal muscle hypertrophy
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C2931845 BXGD018076 Neurodegeneration with brain iron accumulation (NBIA) Nutritional and Metabolic Diseases; Nervous System Diseases
C2932678 BXGD018098 Inherited Peripheral Neuropathy Nervous System Diseases
C3161330 BXGD018511 Profound intellectual disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3553450 BXGD019175 Profound global developmental delay
C3665346 BXGD019278 Unspecified visual loss Pathological Conditions, Signs and Symptoms; Eye Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3665386 BXGD019284 Abnormal vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3711374 BXGD019382 Nonsyndromic Deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3887709 BXGD019918 Optic Neuropathy Eye Diseases; Nervous System Diseases
C3887873 BXGD019922 Hearing Loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C4022576 BXGD020922 Slow pupillary light response
C4023342 BXGD021158 Gastrostomy tube feeding in infancy
C4024706 BXGD021379 Spinal cord posterior columns myelin loss
C4024743 BXGD021400 Aplasia/Hypoplasia of the optic nerve
C4086152 BXGD022123 Childhood Astrocytoma Neoplasms
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4476851 BXGD022879 5-minute APGAR score of 1
C4476857 BXGD022880 1-minute APGAR score of 0
C4551551 BXGD023345 X-linked hereditary motor and sensory neuropathy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4706469 BXGD023696 X-linked Charcot-Marie-Tooth disease type 5
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
C4722085 BXGD023788 Malignant neoplasm of colon and/or rectum
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
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