Gene
slc5a7a
- ID
- ZDB-GENE-090313-273
- Name
- solute carrier family 5 member 7a
- Symbol
- slc5a7a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have choline binding activity and choline:sodium symporter activity. Predicted to be involved in acetylcholine biosynthetic process and choline transport. Predicted to localize to membrane. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 20 and distal hereditary motor neuronopathy type 7A. Is expressed in dorsal habenular nucleus. Orthologous to human SLC5A7 (solute carrier family 5 member 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 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 |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 7 | Alliance | Neuronopathy, distal hereditary motor, autosomal dominant 7 | 158580 |
| congenital myasthenic syndrome 20 | Alliance | Myasthenic syndrome, congenital, 20, presynaptic | 617143 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | High-affinity choline transporter | Sodium/glucose symporter superfamily | Sodium/solute symporter |
|---|---|---|---|---|
|
UniProtKB:A0A8M9PXI7
|
591 | |||
|
UniProtKB:F1Q620
|
592 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc5a7a-201
(1)
|
Ensembl | 5,150 nt |
Interactions and Pathways
No data available
Plasmids
No data available