Showing entry for Ubiquitin-protein ligase E3A


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT025648
Protein NameUbiquitin-protein ligase E3A
Uniport IdQ05086
GeneUBE3A
Gene Id7337
DomainAZUL; HECT
Pfam PF16558   PF00632  
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 hsa04120 Ubiquitin mediated proteolysis
6. Human Diseases 6.9 Infectious diseases: Viral hsa05165 Human papillomavirus infection
6. Human Diseases 6.1 Cancers: Overview hsa05203 Viral carcinogenesis
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0030521 androgen receptor signaling pathway
Biological Process GO:0007420 brain development
Biological Process GO:1990416 cellular response to brain-derived neurotrophic factor stimulus
Biological Process GO:0061002 negative regulation of dendritic spine morphogenesis
Biological Process GO:0001541 ovarian follicle development
Biological Process GO:1905528 positive regulation of Golgi lumen acidification
Biological Process GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
Biological Process GO:0031398 positive regulation of protein ubiquitination
Biological Process GO:0045944 positive regulation of transcription by RNA polymerase II
Biological Process GO:0050847 progesterone receptor signaling pathway
Biological Process GO:0060736 prostate gland growth
Biological Process GO:0051865 protein autoubiquitination
Biological Process GO:0070936 protein K48-linked ubiquitination
Biological Process GO:0006508 proteolysis
Biological Process GO:0042752 regulation of circadian rhythm
Biological Process GO:2000058 regulation of ubiquitin-dependent protein catabolic process
Biological Process GO:0042220 response to cocaine
Biological Process GO:0042542 response to hydrogen peroxide
Biological Process GO:0032570 response to progesterone
Biological Process GO:0048511 rhythmic process
Biological Process GO:0035037 sperm entry
Biological Process GO:0006511 ubiquitin-dependent protein catabolic process
Biological Process GO:0016032 viral process
molecular function GO:0046872 metal ion binding
molecular function GO:0003713 transcription coactivator activity
molecular function GO:0061630 ubiquitin protein ligase activity
molecular function GO:0004842 ubiquitin-protein transferase activity
cellular component GO:0005829 cytosol
cellular component GO:0005634 nucleus
cellular component GO:0000502 proteasome complex
Reactome
Pathway Id Pathway Name
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-983169 Class I MHC mediated antigen processing & presentation
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0003635 BXGD000214 Apraxias Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0004930 BXGD000294 Behavior Disorders Mental Disorders
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007137 BXGD000445 Squamous cell carcinoma Neoplasms
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007847 BXGD000492 Malignant tumor of cervix Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0008073 BXGD000518 Developmental Disabilities Mental Disorders
C0009241 BXGD000595 Cognition Disorders Mental Disorders
C0009806 BXGD000633 Constipation Pathological Conditions, Signs and Symptoms
C0013080 BXGD000797 Down Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0013132 BXGD000799 Drooling Stomatognathic Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014544 BXGD000926 Epilepsy Nervous System Diseases
C0014548 BXGD000928 Epilepsy, Generalized Nervous System Diseases
C0014553 BXGD000931 Absence Epilepsy Nervous System Diseases
C0014599 BXGD000939 Epithelial hyperplasia Pathological Conditions, Signs and Symptoms
C0015310 BXGD000976 Exotropia Eye Diseases; Nervous System Diseases
C0015695 BXGD001013 Fatty Liver Digestive System Diseases
C0016667 BXGD001072 Fragile X Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0019196 BXGD001301 Hepatitis C Digestive System Diseases; Infections
C0020179 BXGD001363 Huntington Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0024421 BXGD001770 Macroglossia Stomatognathic Diseases
C0024433 BXGD001771 Macrostomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
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
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0030354 BXGD002214 Papilloma Neoplasms
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0032897 BXGD002378 Prader-Willi Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0033975 BXGD002447 Psychotic Disorders Mental Disorders
C0035372 BXGD002544 Rett Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal 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
C0041296 BXGD002903 Tuberculosis Infections
C0042769 BXGD002999 Virus Diseases Infections
C0086237 BXGD003273 Epilepsy, Cryptogenic Nervous System Diseases
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162635 BXGD003964 Angelman Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0162835 BXGD003989 Hypopigmentation disorder Skin and Connective Tissue Diseases
C0206708 BXGD004256 Cervical Intraepithelial Neoplasia Neoplasms
C0221352 BXGD004444 Syndactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0221356 BXGD004448 Brachycephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0233844 BXGD004620 Clumsiness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0234376 BXGD004659 Action Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235081 BXGD004720 Tremor, Limb Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0236018 BXGD004804 Aura Nervous System Diseases
C0239801 BXGD004993 Blonde hair
C0240310 BXGD005030 Hypoplasia of the maxilla
C0241442 BXGD005099 Protrusion of tongue
C0262405 BXGD005237 Cerebral dysfunction Nervous System Diseases
C0265219 BXGD005468 Miller Dieker syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0270823 BXGD006112 Petit mal status Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0302592 BXGD006851 Cervix carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0312414 BXGD006886 Menstrual spotting
C0333875 BXGD006972 High-Grade Squamous Intraepithelial Lesions Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0349204 BXGD007892 Nonorganic psychosis Mental Disorders
C0349588 BXGD007933 Short stature
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0376634 BXGD008006 Craniofacial Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0423110 BXGD008471 Downward slant of palpebral fissure
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0424448 BXGD008529 Mask-like facies Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0432072 BXGD008718 Dysmorphic features
C0454641 BXGD008848 Expressive language delay
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0524528 BXGD009229 Pervasive Development Disorder Mental Disorders
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0578626 BXGD009551 blue iris (physical finding)
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600104 BXGD009690 Obsessive compulsive behavior Behavior and Behavior Mechanisms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0677898 BXGD009735 invasive cancer Neoplasms
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0742034 BXGD010052 cerebellar function
C0751111 BXGD010319 Awakening Epilepsy Nervous System Diseases
C0752120 BXGD010668 Spinocerebellar Ataxia Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0795858 BXGD010753 Chromosome 15q, trisomy Pathological Conditions, Signs and Symptoms
C0856863 BXGD011122 Broad-based gait
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1269955 BXGD012005 Tumor Cell Invasion
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1458155 BXGD013136 Mammary Neoplasms Neoplasms; Skin and Connective Tissue Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1512981 BXGD013196 Mammary Tumorigenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C1535926 BXGD013322 Neurodevelopmental Disorders Mental Disorders
C1611743 BXGD013456 Familial (FPAH)
C1833362 BXGD013919 Sleep-wake cycle disturbance
C1837402 BXGD014228 Flat occiput
C1839749 BXGD014401 Paroxysmal bursts of laughter
C1842581 BXGD014525 Abnormal corpus callosum morphology Pathological Conditions, Signs and Symptoms
C1843367 BXGD014576 Poor school performance
C1843885 BXGD014616 Progressive gait ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1844813 BXGD014679 Widely spaced teeth
C1846149 BXGD014786 Intellectual disability, progressive Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1847514 BXGD014868 Postnatal microcephaly
C1848207 BXGD014916 Poor speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1849221 BXGD015024 Fair hair
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1853237 BXGD015319 Isolated cases
C1854301 BXGD015391 Motor delay Mental Disorders
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1876214 BXGD016567 ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2674608 BXGD017250 Feeding difficulties in infancy
C2675336 BXGD017284 Duplication 15q11-q13 Syndrome Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C2711227 BXGD017478 Steatohepatitis Digestive System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3553764 BXGD019187 Joint hyperflexibility
C3698239 BXGD019368 Cerebral cortex myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C3711376 BXGD019383 Isodicentric Chromosome 15 Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C3714514 BXGD019409 Infection Infections
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4021812 BXGD020798 Abnormality of the head
C4048328 BXGD021903 cervical cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4049796 BXGD021951 Abnormality of cardiovascular system morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4316903 BXGD022711 Absence Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4317109 BXGD022725 Epileptic Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4521042 BXGD023055 Complete Trisomy 21 Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4551520 BXGD023336 Intention tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4551583 BXGD023361 Cerebral cortical atrophy
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002586 Calcium 40.08
BXGC0049447 acetate 59.01
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