Gene
slc18a3a
- ID
- ZDB-GENE-060929-990
- Name
- solute carrier family 18 member 3a
- Symbol
- slc18a3a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable acetylcholine transmembrane transporter activity. Predicted to be involved in chemical synaptic transmission. Predicted to act upstream of or within transmembrane transport and xenobiotic transport. Predicted to be located in membrane. Predicted to be part of AP-1 adaptor complex and AP-2 adaptor complex. Predicted to be active in terminal bouton. Is expressed in brain; retina; spinal cord; and spinal cord neural tube. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 21. Orthologous to human SLC18A3 (solute carrier family 18 member A3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myasthenic syndrome 21 | Alliance | Myasthenic syndrome, congenital, 21, presynaptic | 617239 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Major facilitator superfamily | Major facilitator superfamily domain | Major Facilitator Superfamily Vesicular Transporter | MFS transporter superfamily | Multidrug resistance protein |
|---|---|---|---|---|---|---|
|
UniProtKB:Q08C75
|
513 | |||||
|
UniProtKB:B2GS60
|
513 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc18a3a-201
(1)
|
Ensembl | 2,406 nt |
Interactions and Pathways
No data available
Plasmids
No data available