Slc5a7 solute carrier family 5 (choline transporter), member 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc5a7provided by MGI
Official Full Name: solute carrier family 5 (choline transporter), member 7provided by MGI
Primary source: MGI:MGI:1927126
See related: Ensembl:ENSMUSG00000023945 AllianceGenome:MGI:1927126
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CHT1
Summary: 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, Oct 2024]
Expression: Biased expression in cerebellum adult (RPKM 2.1), mammary gland adult (RPKM 1.3) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 C; 17 28.23 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (54580618..54606071, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (54273590..54299038, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our findings suggest that CHT protein levels preferentially impact the capacity for ACh release afforded by mobilization of reserve pool vesicles
Title: Differential impact of genetically modulated choline transporter expression on the release of endogenous versus newly synthesized acetylcholine.
These data provide evidence for an epithelium-independent non-vesicular, non-quantal ACh release in the mouse trachea involving low-affinity choline transporters.
Title: Cholinergic activation of the murine trachealis muscle via non-vesicular acetylcholine release involving low-affinity choline transporters.
bacterial artificial chromosome CHT mice thus represent a novel tool to examine both the positive and negative impact of constitutively elevated cholinergic signaling capacity
Title: Transgenic overexpression of the presynaptic choline transporter elevates acetylcholine levels and augments motor endurance.
These findings reveal compensatory mechanisms that, in the context of moderate cognitive challenges, can overcome the performance deficits expected from the significantly reduced ACh capacity of CHT+/- cholinergic terminals.
Title: Monitoring cholinergic activity during attentional performance in mice heterozygous for the choline transporter: a model of cholinergic capacity limits.
CHT association with cholesterol-rich rafts is critical for its function
Title: Regulation of the high-affinity choline transporter activity and trafficking by its association with cholesterol-rich lipid rafts.
This study showed that a constitutive loss of CHT expression in hemizygous mice leads to a significant reduction in basal extracellular dopamine levels in the nucleus accumbens.
Title: Choline transporter hemizygosity results in diminished basal extracellular dopamine levels in nucleus accumbens and blunts dopamine elevations following cocaine or nicotine.
This study demonistrated that CHT support for neuromuscular signaling involves contributions to ACh synthesis as well as cholinergic synaptic vesicle availability.
Title: Motor neuron-specific overexpression of the presynaptic choline transporter: impact on motor endurance and evoked muscle activity.
CHT1 knockout mice have tachycardia and hypertension at rest.
Title: Tachycardia, reduced vagal capacity, and age-dependent ventricular dysfunction arising from diminished expression of the presynaptic choline transporter.
Synapses persist for at least 2-3 months without postsynaptic activity; however, the presynaptic terminals lack high-affinity choline transporters (CHTs), and as a result, they are quickly depleted of transmitter.
Title: An activity-dependent retrograde signal induces the expression of the high-affinity choline transporter in cholinergic neurons.
adaptor proteins have important functions for CHT trafficking in neuronal cells
Title: Aberrant trafficking of the high-affinity choline transporter in AP-3-deficient mice.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Spontaneous (1) 1 citation
Targeted (3) 1 citation

General gene information

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Markers

Slc5a7 (e-PCR), detects polymorphism
- UniSTS:547353

Slc5a7 (e-PCR), detects polymorphism
- UniSTS:498819

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables choline binding	IDA Inferred from Direct Assay more info	PubMed
enables choline transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables choline transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables choline transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables choline:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables choline:sodium symporter activity	ISO Inferred from Sequence Orthology more info
enables choline:sodium symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acetylcholine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in acetylcholine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within acetylcholine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in acetylcholine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in acetylcholine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in choline transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within choline transport	IDA Inferred from Direct Assay more info	PubMed
involved_in choline transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within choline transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in choline transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in choline transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in synaptic transmission, cholinergic	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within synaptic transmission, cholinergic	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated endocytic vesicle	ISO Inferred from Sequence Orthology more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	ISO Inferred from Sequence Orthology more info
located_in early endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in neuromuscular junction	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
is_active_in perikaryon	IBA Inferred from Biological aspect of Ancestor more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane raft	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: high affinity choline transporter 1

Names: CHT; hemicholinium-3-sensitive choline transporter; solute carrier family 5 member 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_022025.4 → NP_071308.2 high affinity choline transporter 1

See identical proteins and their annotated locations for NP_071308.2

Status: VALIDATED

Source sequence(s)

AK053063, BC065089

Consensus CDS

CCDS28885.1

UniProtKB/Swiss-Prot

Q8BGY9, Q99PK3, Q9ESW5

Related

ENSMUSP00000093379.4, ENSMUST00000095712.5

Conserved Domains (1) summary

cd11474
Location:8 → 495

SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

54580618..54606071 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006524775.4 → XP_006524838.1 high affinity choline transporter 1 isoform X1

See identical proteins and their annotated locations for XP_006524838.1

UniProtKB/Swiss-Prot

Q8BGY9, Q99PK3, Q9ESW5

Conserved Domains (1) summary

cd11474
Location:8 → 495

SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain
XM_006524776.5 → XP_006524839.1 high affinity choline transporter 1 isoform X2

Conserved Domains (1) summary

cd11474
Location:1 → 390

SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain
XM_006524774.4 → XP_006524837.1 high affinity choline transporter 1 isoform X1

See identical proteins and their annotated locations for XP_006524837.1

UniProtKB/Swiss-Prot

Q8BGY9, Q99PK3, Q9ESW5

Conserved Domains (1) summary

cd11474
Location:8 → 495

SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain
XM_036160737.1 → XP_036016630.1 high affinity choline transporter 1 isoform X1

UniProtKB/Swiss-Prot

Q8BGY9, Q99PK3, Q9ESW5

Conserved Domains (1) summary

cd11474
Location:8 → 495

SLC5sbd_CHT; Na(+)- and Cl(-)-dependent choline cotransporter CHT and related proteins; solute-binding domain