Showing entry for Probable E3 ubiquitin-protein ligase HERC1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT013593
Protein NameProbable E3 ubiquitin-protein ligase HERC1
Uniport IdQ15751
GeneHERC1
Gene Id8925
DomainHECT; RCC1; SPRY; WD40
Pfam PF00632   PF00415   PF00622   PF00400  
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
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0021702 cerebellar Purkinje cell differentiation
Biological Process GO:0010507 negative regulation of autophagy
Biological Process GO:0050885 neuromuscular process controlling balance
Biological Process GO:0031175 neuron projection development
molecular function GO:0005086 ARF guanyl-nucleotide exchange factor activity
molecular function GO:0004842 ubiquitin-protein transferase activity
cellular component GO:0005737 cytoplasm
cellular component GO:0005829 cytosol
cellular component GO:0005794 Golgi apparatus
cellular component GO:0016020 membrane
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
C0003706 BXGD000215 Arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0004238 BXGD000262 Atrial Fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0005890 BXGD000345 Body Height
C0015300 BXGD000973 Exophthalmos Eye Diseases
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024117 BXGD001734 Chronic Obstructive Airway Disease Respiratory Tract Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0152421 BXGD003586 Macrotia
C0162635 BXGD003964 Angelman Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0206161 BXGD004167 Reticulocyte count (procedure)
C0221354 BXGD004446 Frontal bossing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0233514 BXGD004584 Abnormal behavior Behavior and Behavior Mechanisms
C0235480 BXGD004751 Paroxysmal atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0239234 BXGD004974 Low set ears
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0241240 BXGD005089 Tall stature
C0242383 BXGD005160 Age related macular degeneration Eye Diseases
C0266617 BXGD005700 Congenital anomaly of face Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0423109 BXGD008470 Upward slant of palpebral fissure
C0423110 BXGD008471 Downward slant of palpebral fissure
C0426870 BXGD008592 Large hand
C0431478 BXGD008692 Posteriorly rotated ear
C0523465 BXGD009209 Serum albumin measurement
C0557874 BXGD009444 Global developmental delay
C0576225 BXGD009526 Long foot Musculoskeletal Diseases
C0683322 BXGD009782 Mental impairment
C0740279 BXGD009973 Cerebellar atrophy
C0751606 BXGD010523 Adult Acute Lymphocytic Leukemia
C0751837 BXGD010604 Gait Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1510586 BXGD013176 Autism Spectrum Disorders Mental Disorders
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1821417 BXGD013764 RESTING HEART RATE
C1832446 BXGD013844 Sparse eyebrow
C1835884 BXGD014061 Triangular face
C1836047 BXGD014074 Long face
C1837260 BXGD014214 Prominent forehead
C1839816 BXGD014411 Long neck
C1843367 BXGD014576 Poor school performance
C1849075 BXGD015002 Relative macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1854113 BXGD015382 Prominent nasal bridge
C1854882 BXGD015439 Absent speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858085 BXGD015770 Malar flattening
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2363142 BXGD017096 T-Cell Prolymphocytic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C2585653 BXGD017139 Persistent atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C2720434 BXGD017532 Macroencephaly
C3278923 BXGD018748 Dilated ventricles (finding)
C3468561 BXGD018908 familial atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4310766 BXGD022657 MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
BXGC0003705 Chloride 35.45
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