Choline transporter

Solute carrier family 5 (sodium/choline cotransporter), member 7
Identifiers
Symbols	SLC5A7 ; CHT; CHT1; HMN7A
External IDs	OMIM: 608761 HomoloGene: 32516 GeneCards: SLC5A7 Gene
Gene ontology Molecular function • choline:sodium symporter activity • choline transmembrane transporter activity • choline binding Cellular component • plasma membrane • integral component of membrane • neuronal cell body Biological process • sodium ion transport • synaptic transmission • neurotransmitter secretion • synaptic transmission, cholinergic • neuromuscular synaptic transmission • acetylcholine biosynthetic process • choline transport • transmembrane transport Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	60482	63993
Ensembl	ENSG00000115665	ENSMUSG00000023945
UniProt	Q9GZV3	Q8BGY9
RefSeq (mRNA)	NM_001305005	NM_022025
RefSeq (protein)	NP_001291934	NP_071308
Location (UCSC)	Chr 2: 107.99 – 108.01 Mb	Chr 17: 54.27 – 54.3 Mb
PubMed search	[1]	[2]

The high-affinity choline transporter (ChT) also known as solute carrier family 5 member 7 is a protein in humans that is encoded by the SLC5A7 gene. It is a cell membrane transporter and carries choline into acetylcholine-synthesizing neurons.

Hemicholinium-3 is an inhibitor of the ChT and can be used to deplete acetylcholine stores, while coluracetam is an enhancer of the ChT and can increase cholinergic neurotransmission by enhancing acetylcholine synthesis.

Function

Choline is a direct precursor of acetylcholine (ACh), a neurotransmitter of the central and peripheral nervous system that regulates a variety of autonomic, cognitive, and motor functions. SLC5A7 is a Na(+)- and Cl(-)- dependent high-affinity transporter that mediates the uptake of choline for acetylcholine synthesis in cholinergic neurons.

Mutations in the SLC5A7 gene have been associated with Distal spinal muscular atrophy with vocal cord paralysis (distal hereditary motor neuropathy type 7A).

Model organisms

Model organisms have been used in the study of SLC5A7 function. A conditional knockout mouse line called Slc5a7^{tm1a(KOMP)Wtsi} was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping

Slc5a7 knockout mouse phenotype

Characteristic	Phenotype
All data available at.
Insulin	Normal
Homozygous viability at P14	Abnormal
Recessive lethal study	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Salmonella infection	Normal

See also

• Vesicular acetylcholine transporter (VAChT)

References

This article incorporates text from the United States National Library of Medicine, which is in the public domain.