Showing entry for High affinity choline transporter 1



                       
General Target Information
BXGT IdBXGT020427
Protein NameHigh affinity choline transporter 1
Uniport IdQ9GZV3
GeneSLC5A7
Gene Id60482
DomainSSF
Pfam PF00474  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
5. Organismal Systems 5.6 Nervous system hsa04725 Cholinergic synapse
6. Human Diseases 6.1 Cancers: Overview hsa05231 Choline metabolism in cancer
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0008292 acetylcholine biosynthetic process
Biological Process GO:0015871 choline transport
Biological Process GO:0007274 neuromuscular synaptic transmission
Biological Process GO:0007269 neurotransmitter secretion
Biological Process GO:0007271 synaptic transmission, cholinergic
Biological Process GO:0055085 transmembrane transport
molecular function GO:0005307 choline:sodium symporter activity
molecular function GO:0033265 choline binding
molecular function GO:0015220 choline transmembrane transporter activity
cellular component GO:0030424 axon
cellular component GO:0030425 dendrite
cellular component GO:0016021 integral component of membrane
cellular component GO:0031594 neuromuscular junction
cellular component GO:0043204 perikaryon
cellular component GO:0005886 plasma membrane
cellular component GO:0098793 presynapse
cellular component GO:0045202 synapse
Reactome
Pathway Id Pathway Name
R-HSA-112310 Neurotransmitter release cycle
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System
R-HSA-1643685 Disease
R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
R-HSA-382551 Transport of small molecules
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-5619102 SLC transporter disorders
R-HSA-5619114 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
R-HSA-5619115 Disorders of transmembrane transporters
R-HSA-5658471 Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003578 BXGD000211 Apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0004096 BXGD000252 Asthma Respiratory Tract Diseases; Immune System Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0010520 BXGD000675 Cyanosis Pathological Conditions, Signs and Symptoms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011570 BXGD000729 Mental Depression Behavior and Behavior Mechanisms
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0012569 BXGD000777 Diplopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0014877 BXGD000967 Esotropia Eye Diseases; Nervous System Diseases
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0017168 BXGD001101 Gastroesophageal reflux disease Digestive System Diseases
C0018129 BXGD001175 Graft Rejection
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0022104 BXGD001529 Irritable Bowel Syndrome Digestive System Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0025521 BXGD001876 Inborn Errors of Metabolism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0030552 BXGD002238 Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038450 BXGD002759 Stridor Pathological Conditions, Signs and Symptoms
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0040517 BXGD002872 Gilles de la Tourette syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0041696 BXGD002932 Unipolar Depression Mental Disorders
C0042928 BXGD003014 Vocal Cord Paralysis Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0079744 BXGD003090 Diffuse Large B-Cell Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0086132 BXGD003264 Depressive Symptoms Behavior and Behavior Mechanisms
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0149521 BXGD003328 Pancreatitis, Chronic Digestive System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0158731 BXGD003902 Congenital pectus carinatum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0162297 BXGD003932 Respiratory arrest Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
C0162635 BXGD003964 Angelman Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0221480 BXGD004464 Recurrent depression Mental Disorders
C0221629 BXGD004467 Proximal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231712 BXGD004519 Waddling gait Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0232608 BXGD004556 Nasal regurgitation
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234245 BXGD004641 Visceral Pain Pathological Conditions, Signs and Symptoms
C0234860 BXGD004698 Weak cry
C0235659 BXGD004763 Reduced fetal movement Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0239234 BXGD004974 Low set ears
C0240479 BXGD005039 Neck muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0241726 BXGD005110 Delayed ability to walk
C0271683 BXGD006234 Polyneuropathy, Motor Nervous System Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0333751 BXGD006966 Muscle fiber atrophy
C0344315 BXGD007666 Depressed mood Behavior and Behavior Mechanisms
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0393929 BXGD008156 Familial infantile myasthenia Pathological Conditions, Signs and Symptoms; Neoplasms; Respiratory Tract Diseases; Immune System Diseases; Nervous System Diseases
C0427065 BXGD008604 Distal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0427144 BXGD008607 Toe-walking gait
C0520679 BXGD009101 Sleep Apnea, Obstructive Respiratory Tract Diseases; Nervous System Diseases
C0520680 BXGD009102 Sleep Apnea, Central Respiratory Tract Diseases; Nervous System Diseases
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0525045 BXGD009255 Mood Disorders Mental Disorders
C0566620 BXGD009490 Nasal voice
C0575157 BXGD009514 Deformity of spine
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0577631 BXGD009535 Carotid Atherosclerosis Nervous System Diseases; Cardiovascular Diseases
C0598589 BXGD009667 Inherited neuropathies Nervous System Diseases
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0751362 BXGD010411 Narcolepsy-Cataplexy Syndrome Nervous System Diseases; Mental Disorders
C0751401 BXGD010427 Ophthalmoparesis Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0751576 BXGD010508 Partial Paralysis (Paresis) Vocal Cords Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0751882 BXGD010626 Myasthenic Syndromes, Congenital Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751883 BXGD010627 Congenital Myasthenic Syndromes, Postsynaptic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751884 BXGD010628 Congenital Myasthenic Syndromes, Presynaptic Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751885 BXGD010629 Myasthenic Syndromes, Congenital, Slow Channel Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0947912 BXGD011497 Myasthenias Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1269683 BXGD012001 Major Depressive Disorder Mental Disorders
C1269955 BXGD012005 Tumor Cell Invasion
C1527344 BXGD013275 Dysphonia Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1834703 BXGD013990 Neuropathy, Distal Hereditary Motor, Type VIIA Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836047 BXGD014074 Long face
C1836450 BXGD014117 Distal lower limb muscle weakness
C1837098 BXGD014198 Easy fatigability
C1837142 BXGD014201 Poor suck
C1839546 BXGD014385 Microretrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1842364 BXGD014511 Central hypotonia
C1844945 BXGD014698 Episodic respiratory distress
C1848736 BXGD014970 Distal amyotrophy
C1854301 BXGD015391 Motor delay Mental Disorders
C1854494 BXGD015409 Slow progression
C1858025 BXGD015760 Spinal rigidity
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858127 BXGD015775 Limb-girdle muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1859438 BXGD015889 Frontalis muscle weakness Infections; Nervous System Diseases; Stomatognathic Diseases
C1861403 BXGD016045 Variable expressivity
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C3203358 BXGD018558 Hypoventilation Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C3642345 BXGD019244 Luminal A Breast Carcinoma
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3806462 BXGD019512 Apneic episodes precipitated by illness, fatigue, stress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C3806482 BXGD019514 Recurrent respiratory infections Infections; Respiratory Tract Diseases
C3807025 BXGD019529 Intermittent episodes of respiratory insufficiency due to muscle weakness
C3809827 BXGD019614 Staring gaze
C4021066 BXGD020539 Narrow jaw
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4021757 BXGD020760 EEG with polyspike wave complexes
C4022168 BXGD020889 EMG: impaired neuromuscular transmission
C4025671 BXGD021722 Sudden episodic apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C4082299 BXGD022088 Bulbar palsy Nervous System Diseases
C4280747 BXGD022397 Choking episodes
C4310694 BXGD022628 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
C4749653 BXGD024065 Distal hereditary motor neuropathy type 7 Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002605 Adenosine 267.24
BXGC0003707 Estrogen 268.36
BXGC0021836 Honokiol 266.13
BXGC0038577 Magnolol 266.13
BXGC0040358 Lobaric Acid 456.18
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