Showing entry for EKC/KEOPS complex subunit LAGE3


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT024111
Protein NameEKC/KEOPS complex subunit LAGE3
Uniport IdQ14657
GeneLAGE3
Gene Id8270
DomainPcc1
Pfam PF09341  
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:0045944 positive regulation of transcription by RNA polymerase II
Biological Process GO:0008033 tRNA processing
Biological Process GO:0070525 tRNA threonylcarbamoyladenosine metabolic process
cellular component GO:0005737 cytoplasm
cellular component GO:0000408 EKC/KEOPS complex
cellular component GO:0016604 nuclear body
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
Reactome
Pathway Id Pathway Name
R-HSA-6782315 tRNA modification in the nucleus and cytosol
R-HSA-72306 tRNA processing
R-HSA-8953854 Metabolism of RNA
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003706 BXGD000215 Arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014877 BXGD000967 Esotropia 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
C0017658 BXGD001138 Glomerulonephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0022658 BXGD001570 Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
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
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
C0027726 BXGD002030 Nephrotic Syndrome Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0033687 BXGD002415 Proteinuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0151526 BXGD003432 Premature Birth Female Urogenital Diseases and Pregnancy Complications
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0152421 BXGD003586 Macrotia
C0178664 BXGD004032 Glomerulosclerosis (disorder) Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
C0232466 BXGD004543 Feeding difficulties
C0234162 BXGD004627 Cerebellar Dysmetria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235946 BXGD004789 Cerebral atrophy Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0262444 BXGD005244 Abnormality of the dentition Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0266464 BXGD005676 Polymicrogyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266483 BXGD005680 Pachygyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0343401 BXGD007623 MRSA - Methicillin resistant Staphylococcus aureus infection Infections
C0349588 BXGD007933 Short stature
C0375206 BXGD007973 Hemiplegia/hemiparesis
C0403397 BXGD008277 Steroid-resistant nephrotic syndrome Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0409348 BXGD008384 Flexion contracture of proximal interphalangeal joint
C0424711 BXGD008541 Orbital separation diminished
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0557874 BXGD009444 Global developmental delay
C0740279 BXGD009973 Cerebellar atrophy
C0795949 BXGD010768 Galloway Mowat syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases
C1704320 BXGD013543 Glomerulonephritis, Minimal Change Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1839758 BXGD014402 Narrow forehead
C1845977 BXGD014769 X- linked recessive
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2919142 BXGD017867 Short Stature, CTCAE
C2936786 BXGD018137 Aqueductal Stenosis Nervous System Diseases
C3266102 BXGD018597 Steroid resistant nephrotic syndrome of childhood Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3489393 BXGD018928 Hiatal Hernia Pathological Conditions, Signs and Symptoms
C3554617 BXGD019228 Adducted thumb Musculoskeletal Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4021986 BXGD020858 Hypoplasia of the ear cartilage
C4023616 BXGD021229 Abnormality of immune system physiology
C4025249 BXGD021604 Abnormality of the intervertebral disk
C4538784 BXGD023223 GALLOWAY-MOWAT SYNDROME 2, X-LINKED
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
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