Showing entry for Usher syndrome type-1G protein


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT014765
Protein NameUsher syndrome type-1G protein
Uniport IdQ495M9
GeneUSH1G
Gene Id124590
DomainAnk_2; SAM_1
Pfam PF12796   PF00536  
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:0050957 equilibrioception
Biological Process GO:0042472 inner ear morphogenesis
Biological Process GO:0060122 inner ear receptor cell stereocilium organization
Biological Process GO:0045494 photoreceptor cell maintenance
Biological Process GO:0050953 sensory perception of light stimulus
Biological Process GO:0007605 sensory perception of sound
molecular function GO:0042802 identical protein binding
molecular function GO:0030507 spectrin binding
cellular component GO:0015629 actin cytoskeleton
cellular component GO:0036064 ciliary basal body
cellular component GO:0005829 cytosol
cellular component GO:0032391 photoreceptor connecting cilium
cellular component GO:0001917 photoreceptor inner segment
cellular component GO:0005886 plasma membrane
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003537 BXGD000208 Aphasia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0011053 BXGD000694 Deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0011570 BXGD000729 Mental Depression Behavior and Behavior Mechanisms
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0015397 BXGD000983 Disorder of eye Eye Diseases
C0018524 BXGD001200 Hallucinations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018979 BXGD001260 Hemianopsia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0028077 BXGD002069 Nyctalopia Eye Diseases
C0036337 BXGD002598 Schizoaffective Disorder Mental Disorders
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036346 BXGD002602 Schizophrenia, Childhood Mental Disorders
C0036454 BXGD002616 Scotoma Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0085632 BXGD003215 Apathy Behavior and Behavior Mechanisms
C0086543 BXGD003294 Cataract Eye Diseases
C0154860 BXGD003752 Hereditary retinal dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0154920 BXGD003755 Pigmentary iris degeneration Eye Diseases; Skin and Connective Tissue Diseases
C0271097 BXGD006163 Usher Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0344315 BXGD007666 Depressed mood Behavior and Behavior Mechanisms
C0476397 BXGD008991 Electroretinogram abnormal
C0557874 BXGD009444 Global developmental delay
C0871099 BXGD011311 positive and negative symptoms
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1568247 BXGD013418 Usher Syndrome, Type I Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1843865 BXGD014615 Vestibular dysfunction
C1847089 BXGD014851 USHER SYNDROME, TYPE IG Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1848606 BXGD014950 Vestibular hypofunction
C1848638 BXGD014952 USHER SYNDROME, TYPE IB (disorder) Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1848639 BXGD014953 USHER SYNDROME, TYPE IA, FORMERLY
C1848640 BXGD014954 USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
C1855925 BXGD015561 Hyperopia, High Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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
C1865866 BXGD016345 Congenital sensorineural hearing loss Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C2931205 BXGD017977 Usher syndrome, type 1A Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C2931206 BXGD017978 Usher syndrome, type 1B Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C3279222 BXGD018751 Aplasia/Hypoplasia of the cerebellum
C3494359 BXGD018962 Prodromal States Pathological Conditions, Signs and Symptoms
C3665346 BXGD019278 Unspecified visual loss Pathological Conditions, Signs and Symptoms; Eye Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3665386 BXGD019284 Abnormal vision Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3711374 BXGD019382 Nonsyndromic Deafness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4021651 BXGD020721 Hypoplasia of the nasal bone
C4021800 BXGD020790 Abnormality of dental enamel
C4023018 BXGD021068 Subcortical cerebral atrophy
C4025858 BXGD021832 Abnormal cochlea morphology
C4072872 BXGD022008 obsolete Rod-cone dystrophy
C4277690 BXGD022377 Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C4551583 BXGD023361 Cerebral cortical atrophy
C4551714 BXGD023398 Rod-Cone Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
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