Showing entry for TBC1 domain family member 20


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019629
Protein NameTBC1 domain family member 20
Uniport IdQ96BZ9
GeneTBC1D20
Gene Id128637
DomainRabGAP-TBC
Pfam PF00566  
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:0001675 acrosome assembly
Biological Process GO:0090110 COPII-coated vesicle cargo loading
Biological Process GO:0048208 COPII vesicle coating
Biological Process GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
Biological Process GO:0007030 Golgi organization
Biological Process GO:0070309 lens fiber cell morphogenesis
Biological Process GO:0034389 lipid droplet organization
Biological Process GO:0044829 positive regulation by host of viral genome replication
Biological Process GO:0046726 positive regulation by virus of viral protein levels in host cell
Biological Process GO:1902953 positive regulation of ER to Golgi vesicle-mediated transport
Biological Process GO:0043547 positive regulation of GTPase activity
Biological Process GO:0072520 seminiferous tubule development
Biological Process GO:0019068 virion assembly
molecular function GO:0005096 GTPase activator activity
molecular function GO:0017137 Rab GTPase binding
cellular component GO:0005783 endoplasmic reticulum
cellular component GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
cellular component GO:0005789 endoplasmic reticulum membrane
cellular component GO:0030173 integral component of Golgi membrane
cellular component GO:0031965 nuclear membrane
Reactome
Pathway Id Pathway Name
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-199991 Membrane Trafficking
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-392499 Metabolism of proteins
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-5653656 Vesicle-mediated transport
R-HSA-597592 Post-translational protein modification
R-HSA-8854214 TBC/RABGAPs
R-HSA-9007101 Rab regulation of trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0001193 BXGD000030 Apert syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine 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
C0017601 BXGD001125 Glaucoma Eye Diseases
C0019196 BXGD001301 Hepatitis C Digestive System Diseases; Infections
C0020295 BXGD001372 Hydronephrosis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0021364 BXGD001500 Male infertility Male Urogenital Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal 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
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic 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
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029294 BXGD002128 Orofaciodigital Syndromes Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0031900 BXGD002313 Pierre Robin Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0034012 BXGD002449 Delayed Puberty Endocrine System Diseases
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
C0086543 BXGD003294 Cataract Eye Diseases
C0152421 BXGD003586 Macrotia
C0162298 BXGD003933 Joint stiffness Musculoskeletal Diseases
C0221060 BXGD004384 Mobius Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0240896 BXGD005059 Fundus coloboma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0241355 BXGD005092 Small testicle
C0265224 BXGD005472 Freeman-Sheldon syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265233 BXGD005474 Cryptophthalmos syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases
C0265240 BXGD005478 Goldenhar Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0266435 BXGD005668 Congenital hypoplasia of penis Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266483 BXGD005680 Pachygyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266544 BXGD005691 Microcornea Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266667 BXGD005707 Cyclocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0349588 BXGD007933 Short stature
C0423224 BXGD008475 Sunken eyes Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0426970 BXGD008598 Spastic Quadriplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0431659 BXGD008699 Hypoplasia of scrotum
C0432066 BXGD008717 Congenital malformation syndromes affecting facial appearance
C0521707 BXGD009166 Bilateral cataracts (disorder) Eye Diseases
C0522214 BXGD009196 Abnormal visual evoked potential Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0687154 BXGD009843 Acrocephalopolysyndactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0740279 BXGD009973 Cerebellar atrophy
C1387005 BXGD012953 Penis agenesis Male Urogenital Diseases
C1837108 BXGD014199 Decreased muscle mass
C1838625 BXGD014327 Warburg Sjo Fledelius syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1840077 BXGD014434 Anteverted nostril
C1840379 BXGD014459 Cerebellar vermis hypoplasia
C1842366 BXGD014512 Low anterior hairline
C1844527 BXGD014640 Clitoral hypoplasia
C1847514 BXGD014868 Postnatal microcephaly
C1849211 BXGD015023 Generalized hirsutism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C1849295 BXGD015031 Hypoplastic labia minora
C1849367 BXGD015046 Nasal bridge wide
C1854114 BXGD015383 Short nose
C1857486 BXGD015710 Low-set, posteriorly rotated ears
C1857641 BXGD015727 Severe postnatal growth retardation
C1861324 BXGD016029 Short philtrum
C1861866 BXGD016087 Aplasia/Hypoplasia of the corpus callosum
C1862475 BXGD016132 Abnormality of retinal pigmentation
C2919142 BXGD017867 Short Stature, CTCAE
C3279674 BXGD018769 Frontoparietal polymicrogyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C3540764 BXGD019092 Coloboma of the Retina Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3810265 BXGD019645 WARBURG MICRO SYNDROME 4
C3810365 BXGD019652 Central visual impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4020968 BXGD020516 Abnormal localization of kidney
C4048268 BXGD021896 Cortical visual impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C4551583 BXGD023361 Cerebral cortical atrophy
C4553743 BXGD023548 Spasticity, CTCAE
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
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