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MIRAGE
High affinity choline transporter 1
Summary
- UniProt ID
- Q9GZV3
- Gene Symbol
- SLC5A7 CHT1
- 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 | Evidence Code | Reference |
|---|---|---|
| in utero embryonic development |
|
|
| neurotransmitter transport | ||
| synaptic transmission, cholinergic | ||
| neuromuscular synaptic transmission | ||
| acetylcholine biosynthetic process |
| GO Term | Evidence Code | Reference |
|---|---|---|
| plasma membrane | ||
| plasma membrane | ||
| plasma membrane | ||
| plasma membrane | ||
| membrane |
GO Hierarchy
| GO Term | Evidence Code | Reference |
|---|---|---|
| choline:sodium symporter activity | ||
| choline:sodium symporter activity | ||
| choline:sodium symporter activity | ||
| choline:sodium symporter activity | ||
| choline transmembrane transporter activity |
GO Hierarchy
Sequence
MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTATWVGGGYINGTAEAVYVPGYGLAWAQAPIGYSLSLILGGLFFAKPMRSKGYVTMLDPFQQIYGKRMGGLLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGGLYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVDSSEVYSWLDSFLLLMLGGIPWQAYFQRVLSSSSATYAQVLSFLAAFGCLVMAIPAILIGAIGASTDWNQTAYGLPDPKTTEEADMILPIVLQYLCPVYISFFGLGAVSAAVMSSADSSILSASSMFARNIYQLSFRQNASDKEIVWVMRITVFVFGASATAMALLTKTVYGLWYLSSDLVYIVIFPQLLCVLFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIFYPGYYPDDNGIYNQKFPFKTLAMVTSFLTNICISYLAKYLFESGTLPPKLDVFDAVVARHSEENMDKTILVKNENIKLDELALVKPRQSMTLSSTFTNKEAFLDVDSSPEGSGTEDNLQ
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 301 |
|
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Acetylcholine Neurotransmitter Release Cycle | Homo sapiens |
| Defective SLC5A7 in the neurotransmitter release cycle causes distal hereditary motor neuronopathy 7A (HMN7A) | Homo sapiens |
| Defective transport by SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A) | Homo sapiens |
| SLC-mediated bile acid transport | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:1596 | depressive disorder | |
| DOID:0111199 | autosomal dominant distal hereditary motor neuronopathy 7 | |
| DOID:0110661 | congenital myasthenic syndrome 20 |
