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, ... See more...

Aliases for SLC18A3 Gene

Aliases for SLC18A3 Gene

  • Solute Carrier Family 18 Member A3 2 3 5
  • VACHT 2 3 4
  • Solute Carrier Family 18 (Vesicular Acetylcholine Transporter), Member 3 2 3
  • Vesicular Acetylcholine Transporter 3 4
  • Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3 3
  • Solute Carrier Family 18, Member 3 3
  • Solute Carrier Family 18 Member 3 4
  • SLC18A3 5
  • CMS21 3
  • VAChT 4

External Ids for SLC18A3 Gene

Previous GeneCards Identifiers for SLC18A3 Gene

  • GC10P049723
  • GC10P050710
  • GC10P050162
  • GC10P050488
  • GC10P050818
  • GC10P045083

Summaries for SLC18A3 Gene

Entrez Gene Summary for SLC18A3 Gene

  • 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]

GeneCards Summary for SLC18A3 Gene

SLC18A3 (Solute Carrier Family 18 Member A3) is a Protein Coding gene. Diseases associated with SLC18A3 include Myasthenic Syndrome, Congenital, 21, Presynaptic and Presynaptic Congenital Myasthenic Syndromes. Among its related pathways are Clathrin-mediated endocytosis and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include transmembrane transporter activity and acetylcholine transmembrane transporter activity. An important paralog of this gene is SLC18A2.

UniProtKB/Swiss-Prot Summary for SLC18A3 Gene

Tocris Summary for SLC18A3 Gene

  • Vesicular acetylcholine transporters (VAChTs) are members of the solute carrier family 18 (SLC18) of ATP-dependent transporters that also includes vesicular monoamine transporters (VMAT) 1 and VMAT2. VAChT is found in the central and peripheral nervous systems.

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC18A3 Gene

Genomics for SLC18A3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC18A3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J049610 Promoter 1.1 EPDnew Ensembl 600.7 -0.1 -109 0.8 PRDM10 ZIC2 EZH2 SP2 ZBTB48 ZBTB26 ZBTB17 ZFHX2 POLR2A ZNF335 CHAT NONHSAG005873.2 SLC18A3 ERCC6
GH10J049608 Promoter 0.4 EPDnew 600.7 -1.3 -1285 0.1 EZH2 CHAT NONHSAG005873.2 SLC18A3 piR-50437-050 ERCC6
GH10J049567 Enhancer 1.1 FANTOM5 Ensembl ENCODE 8.9 -41.5 -41546 2.5 CREB1 RELA CEBPB RUNX3 FOS CHD2 JUN RCOR1 TCF12 JUND ERCC6 SLC18A3 CHAT PGBD3 lnc-CHAT-1 HMGB1P50 piR-50437-050
GH10J049645 Enhancer 0.5 Ensembl 12.1 +35.6 35590 1.4 ZIC2 MNT SPI1 RAD21 MYC MAX CTCF SLC18A3 CHAT piR-35674-048 C10orf53
GH10J049690 Enhancer 0.5 ENCODE 10.4 +80.1 80060 0.2 KDM1A YY1 NANOG POLR2A EZH2 SP1 POU5F1 EGR1 OGDHL MAPK6P6 SLC18A3 CHAT RF02543-010 C10orf53
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC18A3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC18A3

Top Transcription factor binding sites by QIAGEN in the SLC18A3 gene promoter:
  • NRSF form 1
  • NRSF form 2

Genomic Locations for SLC18A3 Gene

Genomic Locations for SLC18A3 Gene
chr10:49,610,310-49,612,720
(GRCh38/hg38)
Size:
2,411 bases
Orientation:
Plus strand
chr10:50,818,347-50,820,766
(GRCh37/hg19)
Size:
2,420 bases
Orientation:
Plus strand

Genomic View for SLC18A3 Gene

Genes around SLC18A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC18A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC18A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC18A3 Gene

Proteins for SLC18A3 Gene

  • Protein details for SLC18A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16572-VACHT_HUMAN
    Recommended name:
    Vesicular acetylcholine transporter
    Protein Accession:
    Q16572
    Secondary Accessions:
    • B2R7S1

    Protein attributes for SLC18A3 Gene

    Size:
    532 amino acids
    Molecular mass:
    56903 Da
    Quaternary structure:
    • Interacts with SEC14L1.

neXtProt entry for SLC18A3 Gene

Post-translational modifications for SLC18A3 Gene

  • Glycosylation at Asn89 and Asn96
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC18A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC18A3 Gene

Domains & Families for SLC18A3 Gene

Gene Families for SLC18A3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC18A3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC18A3 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 18 member 3 (VACHT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16572

UniProtKB/Swiss-Prot:

VACHT_HUMAN :
  • Belongs to the major facilitator superfamily. Vesicular transporter family.
Family:
  • Belongs to the major facilitator superfamily. Vesicular transporter family.
genes like me logo Genes that share domains with SLC18A3: view

Function for SLC18A3 Gene

Molecular function for SLC18A3 Gene

UniProtKB/Swiss-Prot Function:
Involved in acetylcholine transport into synaptic vesicles.
GENATLAS Biochemistry:
solute carrier family 18,member A3,vesicular acetyl-choline transporter,embedded in the first intron of CHAT

Phenotypes From GWAS Catalog for SLC18A3 Gene

Gene Ontology (GO) - Molecular Function for SLC18A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005277 acetylcholine transmembrane transporter activity TAS --
GO:0022857 transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC18A3: view
genes like me logo Genes that share phenotypes with SLC18A3: view

Human Phenotype Ontology for SLC18A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC18A3 Gene

MGI Knock Outs for SLC18A3:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC18A3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC18A3

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SLC18A3 Gene

Localization for SLC18A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC18A3 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC18A3 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC18A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030121 AP-1 adaptor complex IBA 21873635
GO:0030122 AP-2 adaptor complex IBA 21873635
genes like me logo Genes that share ontologies with SLC18A3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC18A3 Gene

Pathways & Interactions for SLC18A3 Gene

genes like me logo Genes that share pathways with SLC18A3: view

Gene Ontology (GO) - Biological Process for SLC18A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006836 neurotransmitter transport IEA --
GO:0007268 chemical synaptic transmission IBA 21873635
GO:0007269 neurotransmitter secretion TAS --
GO:0015695 organic cation transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC18A3: view

No data available for SIGNOR curated interactions for SLC18A3 Gene

Drugs & Compounds for SLC18A3 Gene

(18) Drugs for SLC18A3 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[<sup>123</sup>I]iodobenzovesamicol Pharma 0
[<sup>3</sup>H]vesamicol Pharma 0
aminobenzovesamicol Pharma Inhibitor, Inhibition 0
vesamicol Pharma Inhibitor, Inhibition 0

(11) Additional Compounds for SLC18A3 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Vesamicol hydrochloride
120447-62-3
ML 352 hydrochloride

(2) Tocris Compounds for SLC18A3 Gene

Compound Action Cas Number
(+-)-Vesamicol hydrochloride Inhibits ACh transport 120447-62-3
ML 352 hydrochloride High affinity and selective presynaptic choline transporter (CHT) inhibitor
genes like me logo Genes that share compounds with SLC18A3: view

Transcripts for SLC18A3 Gene

mRNA/cDNA for SLC18A3 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC18A3

Alternative Splicing Database (ASD) splice patterns (SP) for SLC18A3 Gene

No ASD Table

Relevant External Links for SLC18A3 Gene

GeneLoc Exon Structure for
SLC18A3

Expression for SLC18A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC18A3 Gene

mRNA differential expression in normal tissues according to GTEx for SLC18A3 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x14.2), Brain - Caudate (basal ganglia) (x8.6), and Brain - Hypothalamus (x4.9).

Protein differential expression in normal tissues from HIPED for SLC18A3 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC18A3 Gene



Protein tissue co-expression partners for SLC18A3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC18A3

SOURCE GeneReport for Unigene cluster for SLC18A3 Gene:

Hs.654374

mRNA Expression by UniProt/SwissProt for SLC18A3 Gene:

Q16572-VACHT_HUMAN
Tissue specificity: Peripheral and central cholinergic nervous systems.

Evidence on tissue expression from TISSUES for SLC18A3 Gene

  • Nervous system(4.6)
  • Muscle(2.7)
  • Adrenal gland(2.1)
  • Heart(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with SLC18A3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC18A3 Gene

Orthologs for SLC18A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC18A3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC18A3 30 31
  • 99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc18a3 30
  • 85.8 (n)
Mouse
(Mus musculus)
Mammalia Slc18a3 30 17
  • 85.61 (n)
Dog
(Canis familiaris)
Mammalia SLC18A3 30 31
  • 85.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC18A3 30 31
  • 84.61 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC18A3 31
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC18A3 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC18A3 30
  • 72.86 (n)
Lizard
(Anolis carolinensis)
Reptilia SLC18A3 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc18a3 30
  • 63.19 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc18a3b 30
  • 74.65 (n)
CABZ01112647.1 31
  • 69 (a)
OneToMany
slc18a3a 31
  • 68 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002369 30
  • 61.95 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta VAChT 30 31 32
  • 60.22 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea unc-17 30 31 32
  • 54.12 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 8 (a)
ManyToMany
Species where no ortholog for SLC18A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC18A3 Gene

ENSEMBL:
Gene Tree for SLC18A3 (if available)
TreeFam:
Gene Tree for SLC18A3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC18A3: view image

Paralogs for SLC18A3 Gene

Paralogs for SLC18A3 Gene

(2) SIMAP similar genes for SLC18A3 Gene using alignment to 1 proteins:

  • VACHT_HUMAN
genes like me logo Genes that share paralogs with SLC18A3: view

Variants for SLC18A3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC18A3 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
717239 Benign: not provided 49,610,777(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
717240 Benign: not provided 49,611,355(+) G/C SYNONYMOUS_VARIANT,INTRON_VARIANT
717241 Benign: not provided 49,611,667(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
717242 Benign: not provided 49,611,865(+) C/G SYNONYMOUS_VARIANT,INTRON_VARIANT
725982 Likely Benign: not provided 49,611,664(+) C/A SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SLC18A3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC18A3 Gene

Variant ID Type Subtype PubMed ID
nsv1042677 CNV loss 25217958
nsv550819 CNV loss 21841781
nsv950954 CNV deletion 24416366

Variation tolerance for SLC18A3 Gene

Residual Variation Intolerance Score: 24.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC18A3 Gene

Human Gene Mutation Database (HGMD)
SLC18A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC18A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC18A3 Gene

Disorders for SLC18A3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SLC18A3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 21, presynaptic
  • cms21
presynaptic congenital myasthenic syndromes
  • presynaptic congenital myasthenic syndrome
fetal akinesia deformation sequence 1
  • fads1
tendinosis
congenital myasthenic syndrome
  • congenital myasthenic syndromes
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VACHT_HUMAN
  • Myasthenic syndrome, congenital, 21, presynaptic (CMS21) [MIM:617239]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS21 is an autosomal recessive, pre-synaptic form characterized by ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water. Learning difficulties and left ventricular dysfunction may be present in some patients. {ECO:0000269 PubMed:27590285}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC18A3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC18A3: view

No data available for Genatlas for SLC18A3 Gene

Publications for SLC18A3 Gene

  1. Functional identification of a vesicular acetylcholine transporter and its expression from a "cholinergic" gene locus. (PMID: 8071310) Erickson JD … Usdin TB (The Journal of biological chemistry 1994) 2 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 41
  4. Multiple protonation states of vesicular acetylcholine transporter detected by binding of [3H]vesamicol. (PMID: 19685929) Khare P … Parsons SM (Biochemistry 2009) 3 23
  5. SEC14-like protein 1 interacts with cholinergic transporters. (PMID: 17092608) Ribeiro FM … Prado VF (Neurochemistry international 2007) 4 23

Products for SLC18A3 Gene

  • Signalway ELISA kits for SLC18A3

Sources for SLC18A3 Gene