Showing entry for Nucleoporin GLE1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT023762
Protein NameNucleoporin GLE1
Uniport IdQ53GS7
GeneGLE1
Gene Id2733
DomainGLE1
Pfam PF07817  
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:0006406 mRNA export from nucleus
Biological Process GO:0016973 poly(A)+ mRNA export from nucleus
Biological Process GO:0006446 regulation of translational initiation
Biological Process GO:0006449 regulation of translational termination
molecular function GO:0042802 identical protein binding
molecular function GO:0000822 inositol hexakisphosphate binding
molecular function GO:0005543 phospholipid binding
molecular function GO:0031369 translation initiation factor binding
cellular component GO:0005814 centriole
cellular component GO:0005813 centrosome
cellular component GO:0036064 ciliary basal body
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0005615 extracellular space
cellular component GO:0016020 membrane
cellular component GO:0005635 nuclear envelope
cellular component GO:0031965 nuclear membrane
cellular component GO:0005643 nuclear pore
cellular component GO:0044614 nuclear pore cytoplasmic filaments
cellular component GO:0005730 nucleolus
Reactome
Pathway Id Pathway Name
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA
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
C0002736 BXGD000127 Amyotrophic Lateral Sclerosis Nutritional and Metabolic Diseases; Nervous System Diseases
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009918 BXGD000636 Contracture of joint Musculoskeletal Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0011581 BXGD000733 Depressive disorder Mental Disorders
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
C0013404 BXGD000833 Dyspnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0013604 BXGD000859 Edema Pathological Conditions, Signs and Symptoms
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023066 BXGD001605 Laryngospasm Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0025990 BXGD001884 Micrognathism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic 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
C0026884 BXGD001945 Mutism Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0027092 BXGD001971 Myopia Eye Diseases
C0027498 BXGD001994 Nausea and vomiting Pathological Conditions, Signs and Symptoms
C0027746 BXGD002032 Nerve Degeneration Pathological Conditions, Signs and Symptoms
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0043352 BXGD003045 Xerostomia Stomatognathic Diseases
C0085084 BXGD003121 Motor Neuron Disease Nervous System Diseases
C0085631 BXGD003214 Agitation Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0085633 BXGD003216 Mood swings Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0154681 BXGD003730 Anterior Horn Cell Disease Nervous System Diseases
C0221217 BXGD004408 Neck webbing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0232466 BXGD004543 Feeding difficulties
C0239234 BXGD004974 Low set ears
C0239815 BXGD004996 Hand clenching
C0240414 BXGD005035 Hypoplasia of muscle
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0240912 BXGD005062 Vertical Talus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265783 BXGD005575 Congenital hypoplasia of lung Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0266781 BXGD005710 Abnormal amniotic fluid
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0332615 BXGD006898 Myopathic facies
C0349588 BXGD007933 Short stature
C0410916 BXGD008452 Neonatal Death Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0423110 BXGD008471 Downward slant of palpebral fissure
C0424731 BXGD008542 Single transverse palmar crease Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0432072 BXGD008718 Dysmorphic features
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0521525 BXGD009139 Short neck
C0522224 BXGD009198 Paralysed Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0751072 BXGD010312 Frontotemporal Lobar Degeneration Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1263857 BXGD011900 Peripheral axonal neuropathy Nervous System Diseases
C1276035 BXGD012100 Pena-Shokeir syndrome type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1328407 BXGD012465 Hip Dysplasia Musculoskeletal Diseases; Wounds and Injuries
C1527388 BXGD013284 Amniotic Bands Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1611743 BXGD013456 Familial (FPAH)
C1833144 BXGD013898 Slender long bone
C1836003 BXGD014069 Facial diplegia Infections; Nervous System Diseases; Stomatognathic Diseases
C1837260 BXGD014214 Prominent forehead
C1839326 BXGD014367 Abnormal form of the vertebral bodies
C1842083 BXGD014494 Abnormality of the ribs
C1854301 BXGD015391 Motor delay Mental Disorders
C1854664 BXGD015419 LETHAL CONGENITAL CONTRACTURE SYNDROME 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1856694 BXGD015632 Areflexia of lower limbs Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1857108 BXGD015677 Limitation of joint mobility
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861403 BXGD016045 Variable expressivity
C1963060 BXGD016679 Agitation, CTCAE 3.0
C2673351 BXGD017195 Paucity of anterior horn motor neurons
C2673700 BXGD017223 Brisk reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2678471 BXGD017412 Lethal Arthrogryposis With Anterior Horn Cell Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C3494422 BXGD018966 Retrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C3805574 BXGD019481 Increased fracture rate
C3806467 BXGD019513 Respiratory insufficiency due to muscle weakness Respiratory Tract Diseases
C3807591 BXGD019533 Widening of cervical spinal canal
C4021386 BXGD020621 Abnormality of the elbow
C4021735 BXGD020743 Abnormality of the hip bone
C4021741 BXGD020749 Abnormal cortical bone morphology
C4021797 BXGD020787 Abnormality of the thorax
C4022587 BXGD020928 Fatigable weakness of respiratory muscles
C4022588 BXGD020929 Fatigable weakness of swallowing muscles
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
C4552855 BXGD023528 Agitation, CTCAE 5.0
C4553743 BXGD023548 Spasticity, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
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