Showing entry for E3 ubiquitin-protein ligase FANCL


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT021230
Protein NameE3 ubiquitin-protein ligase FANCL
Uniport IdQ9NW38
GeneFANCL
Gene Id55120
DomainFANCL_C; WD-3
Pfam PF11793   PF09765  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
2. Genetic Information Processing 2.4 Replication and repair hsa03460 Fanconi anemia pathway
2. Genetic Information Processing 2.3 Folding, sorting and degradation hsa04120 Ubiquitin mediated proteolysis
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006974 cellular response to DNA damage stimulus
Biological Process GO:0006281 DNA repair
Biological Process GO:0007276 gamete generation
Biological Process GO:0036297 interstrand cross-link repair
Biological Process GO:0006513 protein monoubiquitination
Biological Process GO:0042127 regulation of cell population proliferation
molecular function GO:0046872 metal ion binding
molecular function GO:0061630 ubiquitin protein ligase activity
molecular function GO:0031625 ubiquitin protein ligase binding
molecular function GO:0004842 ubiquitin-protein transferase activity
cellular component GO:0005737 cytoplasm
cellular component GO:0043240 Fanconi anaemia nuclear complex
cellular component GO:0043231 intracellular membrane-bounded organelle
cellular component GO:0016604 nuclear body
cellular component GO:0005635 nuclear envelope
cellular component GO:0005654 nucleoplasm
cellular component GO:0005634 nucleus
Reactome
Pathway Id Pathway Name
R-HSA-6783310 Fanconi Anemia Pathway
R-HSA-73894 DNA Repair
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0003466 BXGD000193 Anus, Imperforate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive 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
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007847 BXGD000492 Malignant tumor of cervix Neoplasms; Female Urogenital Diseases and Pregnancy Complications
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
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
C0023418 BXGD001642 leukemia Neoplasms
C0023449 BXGD001650 Acute lymphocytic leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023452 BXGD001651 Childhood Acute Lymphoblastic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023465 BXGD001656 Acute monocytic leukemia Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023530 BXGD001683 Leukopenia Hemic and Lymphatic Diseases
C0024121 BXGD001735 Lung Neoplasms Neoplasms; Respiratory Tract 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
C0026985 BXGD001956 Myelodysplasia
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0030312 BXGD002207 Pancytopenia Hemic and Lymphatic Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous 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
C0085669 BXGD003233 Acute leukemia Pathological Conditions, Signs and Symptoms; Neoplasms
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
C0221263 BXGD004427 Cafe-au-Lait Spots Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue 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
C0238033 BXGD004861 Carcinoma of Male Breast Neoplasms; Skin and Connective Tissue Diseases
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
C0241397 BXGD005095 Triphalangeal thumb Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0242787 BXGD005195 Malignant neoplasm of male breast Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases
C0262655 BXGD005264 Recurrent urinary tract infection Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
C0265219 BXGD005468 Miller Dieker syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0265660 BXGD005561 Syndactyly of the toes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
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
C0272027 BXGD006296 Pyridoxine-responsive sideroblastic anemia Hemic and Lymphatic Diseases
C0278996 BXGD006621 Malignant Head and Neck Neoplasm Neoplasms
C0302592 BXGD006851 Cervix carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0342526 BXGD007495 Absent testes
C0346153 BXGD007781 Breast Cancer, Familial Neoplasms; Skin and Connective Tissue Diseases
C0349588 BXGD007933 Short stature
C0376628 BXGD008005 Chromosome Breakage Pathological Conditions, Signs and Symptoms
C0376705 BXGD008009 Viral Load result
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423112 BXGD008472 Short palpebral fissure
C0521620 BXGD009150 Dilatation of ureter Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0557874 BXGD009444 Global developmental delay
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0751606 BXGD010523 Adult Acute Lymphocytic Leukemia
C0848558 BXGD010882 Hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0949595 BXGD011580 Gonadal Dysgenesis, 46,XX Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C1168401 BXGD011792 Squamous cell carcinoma of the head and neck Neoplasms
C1262477 BXGD011882 Weight decreased Pathological Conditions, Signs and Symptoms
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
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
C1336076 BXGD012828 Sporadic Breast Carcinoma Neoplasms; Skin and Connective Tissue 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
C1735591 BXGD013712 VACTERL Association Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
C1836230 BXGD014099 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
C1836231 BXGD014100 HIV-1, RESISTANCE TO
C1836232 BXGD014101 ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
C1836233 BXGD014102 AIDS, PROGRESSION TO
C1836735 BXGD014155 hypopigmented skin patch Skin and Connective Tissue Diseases
C1846460 BXGD014820 Abnormality of the outer ear
C1850049 BXGD015101 Clinodactyly of the 5th finger
C1855710 BXGD015534 Bone marrow hypocellularity
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
C2674432 BXGD017246 Reduced bone mineral density
C2749463 BXGD017620 Aplasia/Hypoplasia of the radius
C2919142 BXGD017867 Short Stature, CTCAE
C3160738 BXGD018472 FANCONI ANEMIA, COMPLEMENTATION GROUP D2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
C3164445 BXGD018529 Abnormality of aortic valve
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
C3469528 BXGD018915 FANCONI ANEMIA, COMPLEMENTATION GROUP L
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
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
C4048328 BXGD021903 cervical cancer Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4228778 BXGD022292 Abnormality of radial ray
C4551705 BXGD023397 Abnormality of chromosome stability
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000288 L-Proline 115.13
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