Recombinant Human High affinity choline transporter 1 (SLC5A7), Truncated

Uniprot Id

Q9GZV3

Target Species

Human

Target Name

SLC5A7

Target Full Name

High affinity choline transporter 1

Target Function

Transmembrane transporter that imports choline from the extracellular space into the neuron with high affinity. Choline uptake is the rate-limiting step in acetylcholine synthesis. Sodium ion- and chloride ion-dependent.

Target Involvement

Neuronopathy, distal hereditary motor, 7A (HMN7A); Myasthenic syndrome, congenital, 20, presynaptic (CMS20)

Target Subcellular Location

Membrane; Multi-pass membrane protein. Cell membrane. Cell junction, synapse.

Target Protein Families

Sodium:solute symporter (SSF) (TC 2.A.21) family

Target Tissue Specificity

Expressed in putamen, spinal cord and medulla. Specific for cholinergic neurons.

Target Synonyms

SLC5A7; CHT1; High affinity choline transporter 1; Hemicholinium-3-sensitive choline transporter; CHT; Solute carrier family 5 member 7

Target Background

This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants.