Slc5a7 Gene Summary [Mouse]
Enables choline binding activity and choline transmembrane transporter activity. Involved in acetylcholine biosynthetic process and choline transport. Acts upstream of or within cholinergic synaptic transmission; in utero embryonic development; and neuromuscular synaptic transmission. Located in neuronal cell body and presynaptic membrane. Is expressed in several structures, including central nervous system and diaphragm. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 7; congenital myasthenic syndrome 20; and depressive disorder. Orthologous to human SLC5A7 (solute carrier family 5 member 7). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Slc5a7 |
| Official Name | solute carrier family 5 (choline transporter), member 7 [Source:MGI Symbol;Acc:MGI:1927126] |
| Ensembl ID | ENSMUSG00000023945 |
| Bio databases IDs | |
| Aliases | solute carrier family 5 (choline transporter), member 7 |
| Synonyms | CHOLINE TRANSPORTER, CHT, CHT1, CMS20, DHMNVP, Hact, hCHT1, HMN7A, HMND7, rCHT1, solute carrier family 5 (choline transporter), member 7, solute carrier family 5 member 7 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Slc5a7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- choline transporter
- choline:sodium symporter
- protein binding
- Solute carrier families 5 and 6-like; solute binding domain
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- presynaptic congenital myasthenic syndrome type 20
- cyanosis
- irritable bowel syndrome
- Charcot-Marie-Tooth disease type 2
- schizophrenia
- distal hereditary motor neuronopathy type VIIA
- Alzheimer disease
regulates
- choline
- acetylcholine
- neurotransmitter
- SLC5A7
role in cell
- morphology
- response
- synaptic transmission
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- synaptic vesicle membrane
- Cytoplasm
- cell surface
- intracellular space
- cellular membrane
- apical membrane
- presynaptic membrane
- endosomal membrane
- synaptic vesicles
- neuromuscular junctions
- neurites
- synapse
- early endosomes
- endocytotic vesicle
- membrane rafts
- motor endplates
- perikaryon
- axons
- dendrites
- presynaptic terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Slc5a7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synaptic transmission, cholinergic
- neurotransmitter transport
- sodium ion transport
- acetylcholine biosynthetic process
- choline transport
- transmembrane transport
- neuromuscular synaptic transmission
- in utero embryonic development
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- presynaptic membrane
- dendrite
- membrane
- neuromuscular junction
- synapse
- synaptic vesicle membrane
- perikaryon
- plasma membrane
- axon
Molecular Function
What the gene product does at the molecular level
- choline:sodium symporter activity
- choline binding
- choline transmembrane transporter activity