Showing entry for 116 kDa U5 small nuclear ribonucleoprotein component


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT013524
Protein Name116 kDa U5 small nuclear ribonucleoprotein component
Uniport IdQ15029
GeneEFTUD2
Gene Id9343
DomainEFG_C; EFG_II; EFG_IV; EFTUD2; GTP_EFTU; GTP_EFTU_D2
Pfam PF00679   PF14492   PF03764   PF16004   PF00009   PF03144  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
2. Genetic Information Processing 2.1 Transcription hsa03040 Spliceosome
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0035690 cellular response to drug
Biological Process GO:0000398 mRNA splicing, via spliceosome
Biological Process GO:0042220 response to cocaine
molecular function GO:0003924 GTPase activity
molecular function GO:0005525 GTP binding
molecular function GO:0003723 RNA binding
molecular function GO:0030623 U5 snRNA binding
cellular component GO:0015030 Cajal body
cellular component GO:0071013 catalytic step 2 spliceosome
cellular component GO:0005829 cytosol
cellular component GO:0043231 intracellular membrane-bounded organelle
cellular component GO:0016020 membrane
cellular component GO:0016607 nuclear speck
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
cellular component GO:1990904 ribonucleoprotein complex
cellular component GO:0071007 U2-type catalytic step 2 spliceosome
cellular component GO:0071005 U2-type precatalytic spliceosome
cellular component GO:0046540 U4/U6 x U5 tri-snRNP complex
Reactome
Pathway Id Pathway Name
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway
R-HSA-72172 mRNA Splicing
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
C0008297 BXGD000522 Choanal Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009319 BXGD000596 Colitis Digestive System Diseases
C0009404 BXGD000606 Colorectal Neoplasms Digestive System Diseases; Neoplasms
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013393 BXGD000829 Dysostoses Musculoskeletal Diseases
C0014850 BXGD000957 Esophageal Atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0018777 BXGD001217 Conductive hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
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
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0029422 BXGD002142 Osteochondrodysplasias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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
C0152423 BXGD003587 Congenital small ears Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
C0158761 BXGD003905 Radioulnar Synostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0232466 BXGD004543 Feeding difficulties
C0234985 BXGD004708 Mental deterioration Mental Disorders
C0239234 BXGD004974 Low set ears
C0240310 BXGD005030 Hypoplasia of the maxilla
C0242387 BXGD005161 Mandibulofacial Dysostosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
C0265240 BXGD005478 Goldenhar Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265535 BXGD005544 Trigonocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0266617 BXGD005700 Congenital anomaly of face Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0349588 BXGD007933 Short stature
C0410528 BXGD008430 Skeletal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423113 BXGD008473 Telecanthus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0423318 BXGD008478 Heterochromia iridis Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
C0424503 BXGD008532 Dysmorphic facies
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0424711 BXGD008541 Orbital separation diminished
C0432072 BXGD008718 Dysmorphic features
C0452136 BXGD008830 Conductive hearing loss, bilateral Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0557874 BXGD009444 Global developmental delay
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0678230 BXGD009750 Congenital Epicanthus
C0743101 BXGD010076 developmentally delayed
C1386048 BXGD012950 Intrauterine retardation
C1395852 BXGD012991 Polydactyly preaxial type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1512127 BXGD013185 HER2 gene amplification
C1837218 BXGD014207 Cleft palate, isolated Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1837731 BXGD014260 Overfolded helix
C1839797 BXGD014409 Deep philtrum
C1840077 BXGD014434 Anteverted nostril
C1844573 BXGD014646 Large earlobe
C1846460 BXGD014820 Abnormality of the outer ear
C1847514 BXGD014868 Postnatal microcephaly
C1849211 BXGD015023 Generalized hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1850456 BXGD015146 Progressive microcephaly
C1853242 BXGD015322 Midface retrusion
C1854114 BXGD015383 Short nose
C1857456 BXGD015704 Morphological abnormality of the middle ear
C1857482 BXGD015706 Slender finger
C1858085 BXGD015770 Malar flattening
C1860816 BXGD016001 Preauricular skin tag
C1864652 BXGD016240 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1866190 BXGD016384 Atresia of the external auditory canal
C2674608 BXGD017250 Feeding difficulties in infancy
C2919142 BXGD017867 Short Stature, CTCAE
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4013429 BXGD020129 Underdeveloped tragus
C4021395 BXGD020625 Abnormality of the antihelix
C4021814 BXGD020800 Accessory oral frenulum
C4023439 BXGD021186 Absent tragus
C4281993 BXGD022418 Neonatal respiratory distress Respiratory Tract Diseases
C4551563 BXGD023351 Microcephaly (physical finding)
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
BXGC0048845 Guanosine Triphosphate 522.99
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