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Glycan Structure Repository
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Repository for lectin-assisted multimodality data
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MIRAGE
High affinity choline transporter 1
Summary
- UniProt ID
- Q9GZV3
- Gene Symbol
-
- CHT1
- SLC5A7
- Gene ID
- 60482
- Organism
- Homo sapiens (human)
External Links
- PubChem
- Q9GZV3
- The Human Metabolome Database
- HMDBP02379
- Re-Glyco
- Q9GZV3
Annotation
- Keyword
-
- 3D-structure
- Cell membrane
- Cell projection
- Congenital myasthenic syndrome
- Cytoplasmic vesicle
- Disease variant
- Endosome
- Glycoprotein
- Neurodegeneration
- Neuropathy
- Neurotransmitter biosynthesis
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Sodium transport
- Symport
- Synapse
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| synaptic vesicle membrane |
| early endosome membrane |
| presynaptic membrane |
| perikaryon |
| plasma membrane |
| membrane |
| axon |
| dendrite |
| neuromuscular junction |
| synapse |
| GO Term |
|---|
| choline binding |
| choline transmembrane transporter activity |
| choline:sodium symporter activity |
Sequence
MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTATWVGGGYINGTAEAVYVPGYGLAWAQAPIGYSLSLILGGLFFAKPMRSKGYVTMLDPFQQIYGKRMGGLLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGGLYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVDSSEVYSWLDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILIGAIGASTDWNQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSADSSILSASSMFARNIYQLSFRQNASDKEIVWVMRITVFVFGASATAMALLTKTVYGLWYLSSDLVYIVIFPQLLCVLFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIFYPGYYPDDNGIYNQKFPFKTLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSEENMDKTILVKNENIKLDELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 301 | N-linked (GlcNAc...) asparagine |
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Acetylcholine Neurotransmitter Release Cycle | Homo sapiens |
| Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) | Homo sapiens |
| Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) | Homo sapiens |
| Transport of bile salts and organic acids, metal ions and amine compounds | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110661 | congenital myasthenic syndrome 20 | |
| DOID:0111199 | autosomal dominant distal hereditary motor neuronopathy 7 | |
| DOID:1596 | depressive disorder |
