Slc5a7 - solute carrier family 5 (choline transporter), member 7 Gene

Also Known as CHT1

Species: Mus musculus

Gene Type: protein coding

Gene ID: 63993

Summary

Enables choline binding activity and choline transmembrane transporter activity. Acts upstream of or within several processes, including acetylcholine biosynthetic process; chemical synaptic transmission; and choline transport. Located in neuronal cell body and plasma membrane. Is expressed in several structures, including central nervous system and diaphragm. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 20 and distal hereditary motor neuronopathy type 7A. Orthologous to human SLC5A7 (solute carrier family 5 member 7). [provided by Alliance of Genome Resources, Apr 2022]

Slc5a7 Products (1)

mRNA	Protein	Name
NM_022025.4	NP_071308.2	high affinity choline transporter 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables choline binding	IDA IDA: Inferred from direct assay	17196556	MGI
enables choline transmembrane transporter activity	IDA IDA: Inferred from direct assay	11709061	MGI
enables choline transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	15173594	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	17709753	MGI

Biological Process GO Annotation	Evidence	References	Source
involved in acetylcholine biosynthetic process	IDA IDA: Inferred from direct assay	11709061	MGI
acts upstream of or within acetylcholine biosynthetic process	IMP IMP: Inferred from mutant phenotype	15173594	MGI
involved in acetylcholine biosynthetic process	IMP IMP: Inferred from mutant phenotype	15173594	MGI
acts upstream of or within choline transport	IDA IDA: Inferred from direct assay	17196556	MGI
involved in choline transport	IDA IDA: Inferred from direct assay	11709061	MGI
acts upstream of or within choline transport	IMP IMP: Inferred from mutant phenotype	15173594	MGI
involved in choline transport	IMP IMP: Inferred from mutant phenotype	15173594	MGI
acts upstream of or within in utero embryonic development	IMP IMP: Inferred from mutant phenotype	27996060	MGI
acts upstream of or within neuromuscular synaptic transmission	IMP IMP: Inferred from mutant phenotype	15173594	MGI
acts upstream of or within synaptic transmission, cholinergic	IMP IMP: Inferred from mutant phenotype	15173594	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in neuronal cell body	IDA IDA: Inferred from direct assay	17196556	MGI
located in plasma membrane	IDA IDA: Inferred from direct assay	17196556	MGI
located in presynaptic membrane	IMP IMP: Inferred from mutant phenotype	15173594	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
high affinity choline transporter 1	CHT hemicholinium-3-sensitive choline transporter solute carrier family 5 member 7

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13293	SLC5A7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21938	Slc5a7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Slc5a7	NCBI	NCBI:60482