Showing entry for E3 ubiquitin-protein ligase RFWD3


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT016464
Protein NameE3 ubiquitin-protein ligase RFWD3
Uniport IdQ6PCD5
GeneRFWD3
Gene Id55159
Domainzf-RING_2
Pfam PF13639  
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:0006974 cellular response to DNA damage stimulus
Biological Process GO:0031052 chromosome breakage
Biological Process GO:0000724 double-strand break repair via homologous recombination
Biological Process GO:0036297 interstrand cross-link repair
Biological Process GO:0031571 mitotic G1 DNA damage checkpoint
Biological Process GO:0016567 protein ubiquitination
Biological Process GO:2000001 regulation of DNA damage checkpoint
Biological Process GO:0031297 replication fork processing
Biological Process GO:0010212 response to ionizing radiation
molecular function GO:0097371 MDM2/MDM4 family protein binding
molecular function GO:0046872 metal ion binding
molecular function GO:0002039 p53 binding
molecular function GO:0061630 ubiquitin protein ligase activity
cellular component GO:0005737 cytoplasm
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
cellular component GO:0016605 PML body
cellular component GO:0090734 site of DNA damage
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003466 BXGD000193 Anus, Imperforate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0003803 BXGD000220 Arnold Chiari Malformation Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0003857 BXGD000228 Congenital arteriovenous malformation Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0004106 BXGD000254 Astigmatism Eye Diseases
C0004509 BXGD000275 Azoospermia Male Urogenital Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
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
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0013274 BXGD000809 Patent ductus arteriosus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014772 BXGD000948 Red Blood Cell Count measurement
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0015625 BXGD001006 Fanconi Anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0019569 BXGD001337 Hirschsprung Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020619 BXGD001447 Hypogonadism Endocrine System Diseases
C0023530 BXGD001683 Leukopenia Hemic and Lymphatic Diseases
C0025037 BXGD001822 Meckel Diverticulum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System 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
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026764 BXGD001928 Multiple Myeloma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0026985 BXGD001956 Myelodysplasia
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0039590 BXGD002822 Testicular Neoplasms Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C0039685 BXGD002825 Tetralogy of Fallot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0040034 BXGD002836 Thrombocytopenia Hemic and Lymphatic Diseases
C0040588 BXGD002879 Tracheoesophageal Fistula Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases
C0079924 BXGD003103 Oligohydramnios Female Urogenital Diseases and Pregnancy Complications
C0080178 BXGD003107 Spina Bifida Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0151311 BXGD003412 Cranial nerve palsies Nervous System Diseases
C0151640 BXGD003453 Decreased fertility in males Male Urogenital Diseases
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0221352 BXGD004444 Syndactyly of fingers Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221358 BXGD004450 Long narrow head
C0238093 BXGD004872 Stenosis of duodenum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0241391 BXGD005093 Thumb absent
C0241397 BXGD005095 Triphalangeal thumb Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0262655 BXGD005264 Recurrent urinary tract infection Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
C0265660 BXGD005561 Syndactyly of the toes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0266174 BXGD005626 Duodenal atresia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0266295 BXGD005645 Congenital hypoplasia of kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266387 BXGD005661 Bicornuate uterus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0266589 BXGD005698 Congenital ear anomaly NOS (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
C0266631 BXGD005703 Accessory spleen Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0271561 BXGD006213 Somatotropin deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases
C0272027 BXGD006296 Pyridoxine-responsive sideroblastic anemia Hemic and Lymphatic Diseases
C0342526 BXGD007495 Absent testes
C0349588 BXGD007933 Short stature
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423112 BXGD008472 Short palpebral fissure
C0456070 BXGD008863 Growth delay
C0521620 BXGD009150 Dilatation of ureter Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0557874 BXGD009444 Global developmental delay
C0678230 BXGD009750 Congenital Epicanthus
C0685381 BXGD009809 Congenital hypoplasia of radius Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0848558 BXGD010882 Hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1261502 BXGD011856 Finding of Mean Corpuscular Hemoglobin
C1262477 BXGD011882 Weight decreased Pathological Conditions, Signs and Symptoms
C1306503 BXGD012363 Congenital exomphalos Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C1306710 BXGD012372 Facial asymmetry Pathological Conditions, Signs and Symptoms
C1336708 BXGD012852 Testicular Germ Cell Tumor Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1836735 BXGD014155 hypopigmented skin patch Skin and Connective Tissue Diseases
C1846460 BXGD014820 Abnormality of the outer ear
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1853242 BXGD015322 Midface retrusion
C1856659 BXGD015628 Polysplenia
C1857453 BXGD015703 Renal hypoplasia/aplasia
C1857679 BXGD015735 Sloping forehead
C1860236 BXGD015969 Irregular hyperpigmentation Skin and Connective Tissue Diseases
C1860614 BXGD015992 ULNAR HYPOPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1861975 BXGD016095 Cafe au lait spots, multiple Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1963099 BXGD016682 Myelodysplasia, CTCAE
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2673431 BXGD017202 Abnormality of the periventricular white matter Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2674432 BXGD017246 Reduced bone mineral density
C2749463 BXGD017620 Aplasia/Hypoplasia of the radius
C2919142 BXGD017867 Short Stature, CTCAE
C3164445 BXGD018529 Abnormality of aortic valve
C3278811 BXGD018746 Thumb aplasia Musculoskeletal Diseases
C3278923 BXGD018748 Dilated ventricles (finding)
C3463824 BXGD018899 MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases
C3469521 BXGD018910 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3714796 BXGD019434 Isolated somatotropin deficiency
C3887489 BXGD019879 Clubbing of toes
C4020968 BXGD020516 Abnormal localization of kidney
C4021750 BXGD020755 Abnormality of femur morphology
C4021780 BXGD020775 Abnormality of the liver
C4022016 BXGD020871 Abnormality of the preputium
C4023917 BXGD021276 Aplasia/Hypoplasia of the uvula
C4024748 BXGD021402 Aplasia/Hypoplasia of the iris
C4024780 BXGD021415 Almond-shaped palpebral fissure
C4025071 BXGD021541 Aplasia/Hypoplasia of fingers
C4025211 BXGD021592 Abnormal carotid artery morphology
C4025756 BXGD021778 Abnormal aortic morphology
C4025819 BXGD021808 Abnormality of the hypothalamus-pituitary axis
C4228778 BXGD022292 Abnormality of radial ray
C4521564 BXGD023062 FANCONI ANEMIA, COMPLEMENTATION GROUP W
C4540467 BXGD023260 Megakaryocyte dysplasia
C4551705 BXGD023397 Abnormality of chromosome stability
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
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