SLC18A3 solute carrier family 18 member A3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC18A3provided by HGNC
Official Full Name: solute carrier family 18 member A3provided by HGNC
Primary source: HGNC:HGNC:10936
See related: Ensembl:ENSG00000187714 MIM:600336; AllianceGenome:HGNC:10936
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CMS21; VACHT
Summary: This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 10q11.23

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (49610310..49612720)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (50459116..50461526)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (50818356..50820766)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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.
Expression of VAChT and 5-HT in Ulcerative colitis dendritic cells.
Title: Expression of VAChT and 5-HT in Ulcerative colitis dendritic cells.
Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia.
Title: Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia.
Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations.
Title: Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations.
results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, fetal akinesia deformation sequence, or lethal multiple pterygium syndrome of unknown etiology
Title: SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
In Parkinson's disease patients, freezing of gait status is associated with reduced VACHT expression in striatal cholinergic neurons.
Title: Cholinergic system changes of falls and freezing of gait in Parkinson's disease.
There is a distinctive pattern of human neocortical VChAT expression. The patterns of thalamic and cerebellar cortical cholinergic terminal distribution are likely unique to humans
Title: Regional vesicular acetylcholine transporter distribution in human brain: A [(18) F]fluoroethoxybenzovesamicol positron emission tomography study.
The results of this study suggest that the Gly360Arg mutant VAChT protein undergoes posttranslational degradation.
Title: Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.
PCMC expression of ADAM29, FLRT2, and SLC18A3 could be assessed as part of a routine screen to help identify individuals at risk of severe Obstructive sleep apnea in Asian populations
Title: Gene expression profiles in peripheral blood mononuclear cells of Asian obstructive sleep apnea patients.
Expression of VAChT is increased in neuronal cell lines following upregulation of Lhx8.
Title: Upregulation of Lhx8 increase VAChT expression and ACh release in neuronal cell line SHSY5Y.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital myasthenic syndrome 21 MedGen: C4310654 OMIM: 617239 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables acetylcholine transmembrane transporter activity	TAS Traceable Author Statement more info
enables acetylcholine:proton antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables monoamine:proton antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in acetylcholine uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in neurotransmitter transport	TAS Traceable Author Statement more info
involved_in positive regulation of acetylcholine secretion, neurotransmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of long-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuromuscular junction development	ISS Inferred from Sequence or Structural Similarity more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in serotonin uptake	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of AP-1 adaptor complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of AP-2 adaptor complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in clathrin-coated endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in clathrin-sculpted acetylcholine transport vesicle membrane	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in terminal bouton	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: vesicular acetylcholine transporter

Names: solute carrier family 18 (vesicular acetylcholine transporter), member 3; solute carrier family 18 (vesicular acetylcholine), member 3; 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.

Genomic

NG_053144.1 RefSeqGene

Range

5010..7420

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003055.3 → NP_003046.2 vesicular acetylcholine transporter

See identical proteins and their annotated locations for NP_003046.2

Status: REVIEWED

Source sequence(s)

AC073366, BC007765, U09210

Consensus CDS

CCDS7231.1

UniProtKB/Swiss-Prot

B2R7S1, Q16572

Related

ENSP00000363229.3, ENST00000374115.5

Conserved Domains (2) summary

cd06174
Location:124 → 458

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam07690
Location:124 → 436

MFS_1; Major Facilitator Superfamily