Showing entry for Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019024
Protein NameProtein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
Uniport IdQ8WZA1
GenePOMGNT1
Gene Id55624
DomainGNT-I; ILEI
Pfam PF03071   PF15711  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
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:0016266 O-glycan processing
Biological Process GO:0006493 protein O-linked glycosylation
molecular function GO:0008375 acetylglucosaminyltransferase activity
molecular function GO:0047223 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity
molecular function GO:0030145 manganese ion binding
cellular component GO:0000139 Golgi membrane
cellular component GO:0030173 integral component of Golgi membrane
cellular component GO:0016021 integral component of membrane
Reactome
Pathway Id Pathway Name
R-HSA-1643685 Disease
R-HSA-3781865 Diseases of glycosylation
R-HSA-3906995 Diseases associated with O-glycosylation of proteins
R-HSA-392499 Metabolism of proteins
R-HSA-5083628 Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
R-HSA-5173105 O-linked glycosylation
R-HSA-5668914 Diseases of metabolism
R-HSA-597592 Post-translational protein modification
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003119 BXGD000177 Anophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0009024 BXGD000578 Clonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009363 BXGD000599 Congenital ocular coloboma (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0010038 BXGD000643 Corneal Opacity Eye Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010709 BXGD000689 Cyst Pathological Conditions, Signs and Symptoms; Neoplasms
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0014067 BXGD000885 Occipital Encephalocele 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
C0017636 BXGD001131 Glioblastoma Neoplasms
C0018777 BXGD001217 Conductive hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020302 BXGD001373 Hydrophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0020459 BXGD001394 Hyperinsulinism Nutritional and Metabolic Diseases
C0020619 BXGD001447 Hypogonadism Endocrine System Diseases
C0022578 BXGD001557 Keratoconus Eye Diseases
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024421 BXGD001770 Macroglossia Stomatognathic Diseases
C0025149 BXGD001826 Medulloblastoma Neoplasms
C0025362 BXGD001866 Mental Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; 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
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0028077 BXGD002069 Nyctalopia Eye Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0030232 BXGD002197 Pallor Pathological Conditions, Signs and Symptoms
C0035304 BXGD002528 Retinal Degeneration Eye Diseases
C0035305 BXGD002529 Retinal Detachment Eye Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035313 BXGD002532 Retinal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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
C0037822 BXGD002706 Speech Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0079541 BXGD003081 Holoprosencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0085636 BXGD003218 Photophobia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0151611 BXGD003447 Electroencephalogram abnormal 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
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0206157 BXGD004165 Myopathies, Nemaline Musculoskeletal Diseases; Nervous System Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0221629 BXGD004467 Proximal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0234132 BXGD004623 Pyramidal sign Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234182 BXGD004631 Gowers sign
C0234632 BXGD004691 Reduced visual acuity Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0239067 BXGD004961 Difficulty walking up stairs Pathological Conditions, Signs and Symptoms
C0239234 BXGD004974 Low set ears
C0240063 BXGD005015 Coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0241005 BXGD005072 Creatine phosphokinase serum increased
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
C0266449 BXGD005670 Congenital anomaly of brain Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
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
C0270960 BXGD006141 Congenital myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0270962 BXGD006142 Multi-core congenital myopathy Musculoskeletal Diseases; Nervous System Diseases
C0278510 BXGD006526 Childhood Medulloblastoma Neoplasms
C0278876 BXGD006607 Adult Medulloblastoma Neoplasms
C0278878 BXGD006609 Adult Glioblastoma Neoplasms
C0280474 BXGD006748 Childhood Glioblastoma Neoplasms
C0338502 BXGD007192 Hypoplasia of the optic nerve Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0339526 BXGD007259 Autosomal recessive retinitis pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0344530 BXGD007688 Congenital keratoglobus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0375206 BXGD007973 Hemiplegia/hemiparesis
C0410174 BXGD008410 Fukuyama Type Congenital Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0423250 BXGD008476 Corneal stromal opacities Eye 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
C0432072 BXGD008718 Dysmorphic features
C0432103 BXGD008722 Submucous cleft of hard palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0457133 BXGD008884 Muscle eye brain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0476397 BXGD008991 Electroretinogram abnormal
C0476403 BXGD008992 Electromyogram abnormal
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0521694 BXGD009164 Atrophic retina Eye Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0546264 BXGD009330 Congenital Fiber Type Disproportion Musculoskeletal Diseases; Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System 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
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0751951 BXGD010648 Central Core Myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0854723 BXGD011026 Retinal Dystrophies Eye Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C1184923 BXGD011800 Lumbar hyperlordosis Musculoskeletal Diseases
C1261470 BXGD011854 Congenital meningocele Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1621958 BXGD013468 Glioblastoma Multiforme Neoplasms
C1719838 BXGD013662 Peripapillary atrophy
C1836373 BXGD014110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C1837397 BXGD014227 Severe global developmental delay
C1839025 BXGD014353 Decreased light- and dark-adapted electroretinogram amplitude
C1839630 BXGD014391 Severe muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1839666 BXGD014393 Calf muscle pseudohypertrophy
C1840077 BXGD014434 Anteverted nostril
C1842688 BXGD014532 Hypoplasia of the brainstem
C1847117 BXGD014852 Dilated fourth ventricle
C1847762 BXGD014887 Cerebellar cyst
C1848529 BXGD014935 Hypoplasia of the pons
C1849367 BXGD015046 Nasal bridge wide
C1853242 BXGD015322 Midface retrusion
C1853246 BXGD015323 Eversion of lower lip
C1854301 BXGD015391 Motor delay Mental Disorders
C1854685 BXGD015422 Hypoplasia of the retina
C1854686 BXGD015423 Uncontrolled eye movements
C1854689 BXGD015424 Short nasal bridge
C1855285 BXGD015483 Protruding ear
C1855685 BXGD015531 Undetectable electroretinogram
C1858085 BXGD015770 Malar flattening
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1859341 BXGD015878 Olivopontocerebellar hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C1861866 BXGD016087 Aplasia/Hypoplasia of the corpus callosum
C1862475 BXGD016132 Abnormality of retinal pigmentation
C1866131 BXGD016377 Fusion of the cerebellar hemispheres
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2265792 BXGD017012 Skeletal muscle hypertrophy
C2751052 BXGD017689 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
C2875316 BXGD017838 Myotubular (centronuclear) myopathy
C2936406 BXGD018115 alpha-Dystroglycanopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C3150412 BXGD018304 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
C3150415 BXGD018306 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
C3150416 BXGD018307 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3150417 BXGD018308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
C3151519 BXGD018438 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3161330 BXGD018511 Profound intellectual disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3278322 BXGD018736 Cerebellar dysplasia
C3278923 BXGD018748 Dilated ventricles (finding)
C3279222 BXGD018751 Aplasia/Hypoplasia of the cerebellum
C3549703 BXGD019126 Retinal thinning
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3809221 BXGD019576 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
C4015098 BXGD020184 Hypoglycosylation of alpha-dystroglycan
C4015184 BXGD020191 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
C4021558 BXGD020671 Enlarged flash visual evoked potentials
C4021776 BXGD020772 Abnormality of the voice
C4021786 BXGD020779 Atypical scarring of skin Pathological Conditions, Signs and Symptoms
C4022646 BXGD020942 Reduced muscle fiber alpha dystroglycan
C4022771 BXGD020996 Decreased thalamic volume
C4022916 BXGD021037 Abnormal aldolase level
C4024809 BXGD021425 Chorioretinal dysplasia
C4024818 BXGD021428 Progressive night blindness Eye Diseases
C4024923 BXGD021476 Diffuse white matter abnormalities Pathological Conditions, Signs and Symptoms
C4025773 BXGD021784 Aplasia/Hypoplasia involving the skeletal musculature
C4025790 BXGD021791 Specific learning disability
C4025845 BXGD021825 Abnormality iris morphology
C4073168 BXGD022057 Abnormal lactate dehydrogenase activity
C4082144 BXGD022081 Metatarsal Valgus Musculoskeletal Diseases
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
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
C4310704 BXGD022632 RETINITIS PIGMENTOSA 76
C4551488 BXGD023314 Bifid uvula
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
C4553743 BXGD023548 Spasticity, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0003993 Uridine diphosphate 404.16
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