Showing entry for Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019677
Protein NamePeptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
Uniport IdQ96IV0
GeneNGLY1
Gene Id55768
DomainPAW; PUB; Transglut_core
Pfam PF04721   PF09409   PF01841  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
2. Genetic Information Processing 2.3 Folding, sorting and degradation hsa04141 Protein processing in endoplasmic reticulum
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006516 glycoprotein catabolic process
Biological Process GO:0006517 protein deglycosylation
Biological Process GO:0006457 protein folding
Biological Process GO:0006515 protein quality control for misfolded or incompletely synthesized proteins
molecular function GO:0046872 metal ion binding
molecular function GO:0000224 peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0005634 nucleus
Reactome
Pathway Id Pathway Name
R-HSA-392499 Metabolism of proteins
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-597592 Post-translational protein modification
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
C0003028 BXGD000170 Anhidrosis Skin and Connective Tissue Diseases
C0004158 BXGD000261 Athetosis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0008489 BXGD000546 Chorea Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0010038 BXGD000643 Corneal Opacity Eye Diseases
C0010043 BXGD000644 Corneal Ulcer Infections; Eye Diseases
C0010823 BXGD000690 Cytomegalovirus Infections Infections
C0015310 BXGD000976 Exotropia Eye Diseases; Nervous System Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015967 BXGD001030 Fever Pathological Conditions, Signs and Symptoms
C0017154 BXGD001097 Gastritis, Atrophic Digestive System Diseases
C0017639 BXGD001133 Gliosis Pathological Conditions, Signs and Symptoms
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0020458 BXGD001393 Hyperhidrosis disorder Skin and Connective Tissue Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0024623 BXGD001791 Malignant neoplasm of stomach Digestive System Diseases; Neoplasms
C0025202 BXGD001832 melanoma Neoplasms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0029456 BXGD002157 Osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0031117 BXGD002285 Peripheral Neuropathy Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037769 BXGD002701 West Syndrome Nervous System Diseases
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0085109 BXGD003125 Corneal Neovascularization Pathological Conditions, Signs and Symptoms; Eye Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0151718 BXGD003464 Hypocholesterolemia Nutritional and Metabolic Diseases
C0151872 BXGD003493 Prothrombin time increased Hemic and Lymphatic Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152025 BXGD003521 Polyneuropathy Nervous System Diseases
C0221356 BXGD004448 Brachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0234162 BXGD004627 Cerebellar Dysmetria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234174 BXGD004629 Sucking reflex
C0234376 BXGD004659 Action Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234966 BXGD004704 Astasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235857 BXGD004778 Decreased lacrimation Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0239137 BXGD004965 Coxa valga Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0267071 BXGD005730 Oropharyngeal Dysphagia Digestive System Diseases; Otorhinolaryngologic Diseases
C0267812 BXGD005780 Micronodular cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0270820 BXGD006111 Gelastic Epilepsy Nervous System Diseases
C0270846 BXGD006116 Epileptic drop attack Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0271270 BXGD006178 Oculovestibuloauditory syndrome Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
C0302511 BXGD006849 Small for gestational age fetus Pathological Conditions, Signs and Symptoms
C0344307 BXGD007664 Absence of pain sensation Pathological Conditions, Signs and Symptoms; Mental Disorders
C0344505 BXGD007681 Alacrima Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0349702 BXGD007951 Corneal Scar Eye Diseases; Nervous System Diseases; Wounds and Injuries
C0398625 BXGD008203 Protein C Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0401149 BXGD008273 Chronic constipation Pathological Conditions, Signs and Symptoms
C0410264 BXGD008423 Contracture of tendo achilles
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0424731 BXGD008542 Single transverse palmar crease Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0432072 BXGD008718 Dysmorphic features
C0442874 BXGD008814 Neuropathy Nervous System Diseases
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0520679 BXGD009101 Sleep Apnea, Obstructive Respiratory Tract Diseases; Nervous System Diseases
C0541764 BXGD009259 Delayed bone age
C0542037 BXGD009269 Hypotriglyceridemia
C0553681 BXGD009406 Hypofibrinogenemia
C0554970 BXGD009428 Pallor of optic disc
C0557874 BXGD009444 Global developmental delay
C0575802 BXGD009521 Small hand
C0576226 BXGD009527 Short foot
C0699791 BXGD009867 Stomach Carcinoma Digestive System Diseases; Neoplasms
C0740279 BXGD009973 Cerebellar atrophy
C0752324 BXGD010717 Focal Tonic Seizures Nervous System Diseases
C0853085 BXGD010963 Decreased LDL cholesterol concentration Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0857836 BXGD011159 JC virus infection Infections
C1112256 BXGD011655 Sensorimotor neuropathy
C1262477 BXGD011882 Weight decreased Pathological Conditions, Signs and Symptoms
C1269955 BXGD012005 Tumor Cell Invasion
C1277241 BXGD012110 Delayed myelination Mental Disorders
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1318485 BXGD012394 Liver regeneration disorder Digestive System Diseases
C1328407 BXGD012465 Hip Dysplasia Musculoskeletal Diseases; Wounds and Injuries
C1390474 BXGD012969 Increased susceptibility to fractures
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1832338 BXGD013829 Axonal loss
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836830 BXGD014165 Developmental regression Mental Disorders
C1837463 BXGD014235 Narrow face
C1840077 BXGD014434 Anteverted nostril
C1843367 BXGD014576 Poor school performance
C1845251 BXGD014734 Facial hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1847514 BXGD014868 Postnatal microcephaly
C1847868 BXGD014893 Generalized aminoaciduria
C1848207 BXGD014916 Poor speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1848673 BXGD014963 Hypoplastic feet
C1848701 BXGD014967 Elevated hepatic transaminase
C1849148 BXGD015014 Decreased sensory nerve conduction velocity
C1850415 BXGD015142 Microvesicular hepatic steatosis Digestive System Diseases
C1853618 BXGD015347 Perivascular spaces
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1864365 BXGD016224 Acromesomelia
C1864716 BXGD016245 Intrinsic hand muscle atrophy
C1865916 BXGD016355 Bilateral ptosis Eye Diseases
C2242579 BXGD016981 Lingual dystonia
C2674432 BXGD017246 Reduced bone mineral density
C3161330 BXGD018511 Profound intellectual disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
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
C3806482 BXGD019514 Recurrent respiratory infections Infections; Respiratory Tract Diseases
C3808991 BXGD019566 NGLY1 deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C3809827 BXGD019614 Staring gaze
C3810365 BXGD019652 Central visual impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3887506 BXGD019886 Hyperkinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3887612 BXGD019905 Psychomotor Agitation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C4020941 BXGD020501 Sclerosis of finger phalanx
C4021085 BXGD020544 Abnormality of brain morphology
C4021759 BXGD020762 Generalized myoclonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4022589 BXGD020930 Fatigable weakness of speech muscles
C4022680 BXGD020954 Lagopthalmos
C4022761 BXGD020988 Reduced brain N-acetyl aspartate level by MRS
C4022763 BXGD020990 Elevated brain choline level by MRS
C4022947 BXGD021043 Decreased resting energy expenditure
C4024154 BXGD021291 Sunken cheeks
C4073157 BXGD022051 Decreased CSF biopterin level
C4085590 BXGD022119 Cone-Rod Dystrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C4280803 BXGD022407 Decreased CSF homovanillic acid
C4316812 BXGD022704 Fibrinogen Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C4316903 BXGD022711 Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317093 BXGD022723 Reduced factor XI activity
C4476710 BXGD022851 Delayed ability to sit
C4476788 BXGD022869 Decreased CSF 5-hydroxyindolacetic acid
C4476790 BXGD022870 Decreased CSF protein
C4476792 BXGD022871 High myoinositol in brain by MRS
C4476891 BXGD022883 Decreased CSF/serum albumin ratio
C4476893 BXGD022884 Reduced brain glutamine level by MRS
C4476932 BXGD022891 Tarsal sclerosis
C4477005 BXGD022901 Impaired oral bolus formation Digestive System Diseases; Otorhinolaryngologic Diseases
C4477013 BXGD022904 Impaired oropharyngeal swallow response Digestive System Diseases; Otorhinolaryngologic Diseases
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
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