Showing entry for D-ribitol-5-phosphate cytidylyltransferase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT001208
Protein NameD-ribitol-5-phosphate cytidylyltransferase
Uniport IdA4D126
GeneCRPPA
Gene Id729920
DomainIspD; ISPD_C
Pfam PF01128   PF18706  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.1 Carbohydrate metabolism hsa00040 Pentose and glucuronate interconversions
1. Metabolism 1.7 Glycan biosynthesis and metabolism hsa00515 Mannose type O-glycan biosynthesis
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0007411 axon guidance
Biological Process GO:0008299 isoprenoid biosynthetic process
Biological Process GO:0035269 protein O-linked mannosylation
molecular function GO:0070567 cytidylyltransferase activity
molecular function GO:0047349 D-ribitol-5-phosphate cytidylyltransferase activity
molecular function GO:0042803 protein homodimerization activity
cellular component GO:0005829 cytosol
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0003119 BXGD000177 Anophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0009451 BXGD000614 Communicating Hydrocephalus Nervous System Diseases
C0010038 BXGD000643 Corneal Opacity Eye Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0014065 BXGD000884 Congenital cerebral hernia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0015393 BXGD000981 Eye Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0017601 BXGD001125 Glaucoma Eye Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020256 BXGD001370 Congenital Hydrocephalus Nervous System Diseases
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024421 BXGD001770 Macroglossia Stomatognathic Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0026850 BXGD001942 Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027794 BXGD002036 Neural Tube Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0032285 BXGD002344 Pneumonia Infections; Respiratory Tract Diseases
C0035305 BXGD002529 Retinal Detachment Eye Diseases
C0035313 BXGD002532 Retinal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0079035 BXGD003061 Bradyarrhythmia (disorder) Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0086543 BXGD003294 Cataract Eye 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
C0152423 BXGD003587 Congenital small ears Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0231528 BXGD004496 Myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235659 BXGD004763 Reduced fetal movement Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0239234 BXGD004974 Low set ears
C0240063 BXGD005015 Coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0240953 BXGD005067 Winged scapula
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0243050 BXGD005212 Cardiovascular Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0265221 BXGD005470 Walker-Warburg congenital muscular dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0266435 BXGD005668 Congenital hypoplasia of penis Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266464 BXGD005676 Polymicrogyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0266483 BXGD005680 Pachygyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266491 BXGD005683 Neuronal heterotopia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266544 BXGD005691 Microcornea Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266551 BXGD005693 Congenital coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266568 BXGD005695 Persistent Hyperplastic Primary Vitreous Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0270720 BXGD006091 Hydrocephalus Ex-Vacuo Nervous System Diseases
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0338502 BXGD007192 Hypoplasia of the optic nerve Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0344559 BXGD007695 Irido-corneo-trabecular dysgenesis (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0392885 BXGD008071 High density lipoprotein measurement
C0410174 BXGD008410 Fukuyama Type Congenital Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0410264 BXGD008423 Contracture of tendo achilles
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0427144 BXGD008607 Toe-walking gait
C0431368 BXGD008673 Partial agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431371 BXGD008676 Absence of septum pellucidum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431376 BXGD008678 Cobblestone Lissencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431478 BXGD008692 Posteriorly rotated ear
C0432103 BXGD008722 Submucous cleft of hard palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0457133 BXGD008884 Muscle eye brain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0476408 BXGD008994 Reduced vital capacity
C0477432 BXGD009002 Post-Traumatic Hydrocephalus Nervous System Diseases
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0541794 BXGD009262 Skeletal muscle atrophy
C0549423 BXGD009380 Obstructive Hydrocephalus Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0686353 BXGD009833 Muscular Dystrophies, Limb-Girdle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0699743 BXGD009862 Congenital muscular dystrophy (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0740279 BXGD009973 Cerebellar atrophy
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0850703 BXGD010905 Frequent falls Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0854723 BXGD011026 Retinal Dystrophies Eye Diseases
C0948163 BXGD011511 Leukoaraiosis Pathological Conditions, Signs and Symptoms
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1836003 BXGD014069 Facial diplegia Infections; Nervous System Diseases; Stomatognathic Diseases
C1836373 BXGD014110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C1836843 BXGD014168 Progressive inability to walk
C1839666 BXGD014393 Calf muscle pseudohypertrophy
C1842552 BXGD014523 Limb-girdle muscle atrophy
C1842688 BXGD014532 Hypoplasia of the brainstem
C1843057 BXGD014552 Calf muscle hypertrophy
C1845155 BXGD014720 Exercise-induced myoglobinuria Musculoskeletal Diseases
C1847762 BXGD014887 Cerebellar cyst
C1850794 BXGD015178 Proximal amyotrophy
C1854301 BXGD015391 Motor delay Mental Disorders
C1854494 BXGD015409 Slow progression
C1855285 BXGD015483 Protruding ear
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858127 BXGD015775 Limb-girdle muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1866010 BXGD016360 Proximal muscle weakness in lower limbs
C1866012 BXGD016361 Proximal muscle weakness in upper limbs
C1879312 BXGD016571 Agyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2721563 BXGD017535 Infectious pneumonitis
C2750786 BXGD017678 Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C2936406 BXGD018115 alpha-Dystroglycanopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C2936718 BXGD018129 Fetal Cerebral Ventriculomegaly Nervous System Diseases
C2936786 BXGD018137 Aqueductal Stenosis Nervous System Diseases
C3161330 BXGD018511 Profound intellectual disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3278923 BXGD018748 Dilated ventricles (finding)
C3494422 BXGD018966 Retrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C3553330 BXGD019168 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
C3553331 BXGD019169 Subcortical heterotopia
C3553813 BXGD019191 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
C3554617 BXGD019228 Adducted thumb Musculoskeletal Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3808250 BXGD019542 Reduced forced vital capacity
C4015095 BXGD020183 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
C4015098 BXGD020184 Hypoglycosylation of alpha-dystroglycan
C4021082 BXGD020543 Fatty replacement of skeletal muscle
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4022646 BXGD020942 Reduced muscle fiber alpha dystroglycan
C4022916 BXGD021037 Abnormal aldolase level
C4023352 BXGD021162 Abnormality of higher mental function
C4024809 BXGD021425 Chorioretinal dysplasia
C4025773 BXGD021784 Aplasia/Hypoplasia involving the skeletal musculature
C4025790 BXGD021791 Specific learning disability
C4073168 BXGD022057 Abnormal lactate dehydrogenase activity
C4082144 BXGD022081 Metatarsal Valgus Musculoskeletal Diseases
C4284790 BXGD022441 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C4316870 BXGD022707 Abnormality of the eye
C4551488 BXGD023314 Bifid uvula
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
BXGC0003705 Chloride 35.45
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