Slc18a3 solute carrier family 18 (vesicular monoamine), member 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc18a3provided by MGI
Official Full Name: solute carrier family 18 (vesicular monoamine), member 3provided by MGI
Primary source: MGI:MGI:1101061
See related: Ensembl:ENSMUSG00000100241 AllianceGenome:MGI:1101061
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: VAT; VAChT
Summary: Predicted to enable acetylcholine:proton antiporter activity and monoamine:proton antiporter activity. Involved in neurotransmitter loading into synaptic vesicle; positive regulation of neuromuscular junction development; and positive regulation of synaptic transmission. Located in cytoplasm and terminal bouton. Is active in cholinergic synapse. Is expressed in several structures, including esophagus; heart; nervous system; sensory organ; and urinary system. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 21. Orthologous to human SLC18A3 (solute carrier family 18 member A3). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human all
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Genomic context

Location:: 14 B; 14 19.4 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (32184394..32186807, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (32462437..32464850, complement)

Chromosome 14 - NC_000080.7 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
Title: Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.
Lung Edema and Mortality Induced by Intestinal Ischemia and Reperfusion Is Regulated by VAChT Levels in Female Mice.
Title: Lung Edema and Mortality Induced by Intestinal Ischemia and Reperfusion Is Regulated by VAChT Levels in Female Mice.
Motoneuron-specific loss of VAChT mimics neuromuscular defects seen in congenital myasthenic syndrome.
Title: Motoneuron-specific loss of VAChT mimics neuromuscular defects seen in congenital myasthenic syndrome.
Study shows that in ChAT::Cre+ rats, vesicular acetylcholine transporter overexpression associates with significant alterations of certain cognitive, motor and affective functions.
Title: Altered motor, anxiety-related and attentional task performance at baseline associate with multiple gene copies of the vesicular acetylcholine transporter and related protein overexpression in ChAT::Cre+ rats.
Aged VAChT-deficient mice showed a decrease in the number of hippocampal neurons and Alzheimer's-Like Pathology.
Title: Cholinergic Surveillance over Hippocampal RNA Metabolism and Alzheimer's-Like Pathology.
These findings suggest that nitrosylation of VAChT and VGLUT1 may be associated with dysfunctional acetylcholinergic and glutamatergic neurotransmission in Alzheimer's disease.
Title: Nitrosylation of Vesicular Transporters in Brain of Amyloid Precursor Protein/Presenilin 1 Double Transgenic Mice.
Studied object recognition and spatial location in mice deficient for Vesicular Acetylcholine Transporter (VAChT) within interneurons of the striatum, found: impairment in home cage object recognition with a 15 min retention delay, but not with a 3 h retention delay; no on memory for the location of objects; sex differences in retention
Title: Mice deficient for striatal Vesicular Acetylcholine Transporter (VAChT) display impaired short-term but normal long-term object recognition memory.
VAChT overexpression increases acetylcholine at the synaptic cleft and accelerates aging of neuromuscular junctions. Data demonstrate that increasing levels of acetylcholine at the synaptic cleft promote degeneration of adult neuromuscular junction, contributing to age- and disease-related motor deficits.
Title: VAChT overexpression increases acetylcholine at the synaptic cleft and accelerates aging of neuromuscular junctions.
Old VAChT deficient mice (13-16 months-old) showed more pronounced motor learning/balance deficits on the rotarod, and more pronounced balance deficits on the catwalk
Title: Deletion of the vesicular acetylcholine transporter from pedunculopontine/laterodorsal tegmental neurons modifies gait.
These results suggest that the VAChT-Cre lines are Cre-drivers that have selectivity in S and FR motor neurons.
Title: Reappraisal of VAChT-Cre: Preference in slow motor neurons innervating type I or IIa muscle fibers.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

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

Targeted (5) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:547010

Slc18a3 (e-PCR), detects polymorphism
- UniSTS:547010

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylcholine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylcholine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables acetylcholine:proton antiporter activity	ISO Inferred from Sequence Orthology more info
enables acetylcholine:proton antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables monoamine transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables monoamine:proton antiporter activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acetylcholine transport	ISO Inferred from Sequence Orthology more info
involved_in acetylcholine uptake	ISO Inferred from Sequence Orthology more info
involved_in acetylcholine uptake	ISS Inferred from Sequence or Structural Similarity more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoamine transport	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter loading into synaptic vesicle	EXP Inferred from Experiment more info	PubMed
involved_in neurotransmitter loading into synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotransmitter loading into synaptic vesicle	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of acetylcholine secretion, neurotransmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of long-term synaptic potentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in serotonin uptake	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of AP-1 adaptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of AP-1 adaptor complex	ISO Inferred from Sequence Orthology more info
part_of AP-2 adaptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of AP-2 adaptor complex	ISO Inferred from Sequence Orthology more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in axon terminus	ISO Inferred from Sequence Orthology more info
is_active_in cholinergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in cholinergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in cholinergic synapse	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	ISO Inferred from Sequence Orthology more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
is_active_in terminal bouton	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal bouton	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: vesicular acetylcholine transporter

Names: solute carrier family 18 member 3

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_021712.3 → NP_068358.2 vesicular acetylcholine transporter

See identical proteins and their annotated locations for NP_068358.2

Status: VALIDATED

Source sequence(s)

AC167565

Consensus CDS

CCDS79291.1

UniProtKB/Swiss-Prot

O35304

UniProtKB/TrEMBL

Q3TYJ1

Related

ENSMUSP00000139829.2, ENSMUST00000191501.2

Conserved Domains (2) summary

TIGR00880
Location:125 → 260

2_A_01_02; Multidrug resistance protein

pfam07690
Location:124 → 436

MFS_1; Major Facilitator Superfamily