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Aliases for SLC18A3 Gene

Aliases for SLC18A3 Gene

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

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 Circadian entrainment and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include transmembrane transporter activity and acetylcholine transmembrane transporter activity. An important paralog of this gene is SLC18A1.

UniProtKB/Swiss-Prot for SLC18A3 Gene

  • Involved in acetylcholine transport into synaptic vesicles.

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.

Additional gene information for SLC18A3 Gene

No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC18A3 Gene

Genomics for SLC18A3 Gene

GeneHancer (GH) Regulatory Elements for SLC18A3 Gene

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
GH10I049610 Promoter 0.7 EPDnew 550.8 0.0 -10 0.1 ZFHX2 EZH2 CHAT SLC18A3 GC10P049595
GH10I049608 Promoter 0.6 EPDnew 550.8 -1.3 -1276 0.1 EZH2 CHAT SLC18A3 GC10P049595
GH10I049567 Enhancer 1.2 FANTOM5 Ensembl ENCODE 8.9 -41.4 -41395 2.2 MXI1 JUN MAX RFX5 RELA NFYB RCOR1 FOS RUNX3 NFE2L2 ERCC6 SLC18A3 CHAT PGBD3 HMGB1P50 GC10P049595
GH10I049690 Enhancer 0.5 ENCODE 10.4 +80.1 80069 0.2 SP1 POLR2A POU5F1 EZH2 OGDHL MAPK6PS6 CHAT SLC18A3 GC10M049685 C10orf53
GH10I049689 Enhancer 0.4 ENCODE 10.4 +79.8 79769 0.2 POLR2A EZH2 OGDHL MAPK6PS6 SLC18A3 CHAT C10orf53 GC10M049685
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC18A3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC18A3 gene promoter:

Genomic Locations for SLC18A3 Gene

Genomic Locations for SLC18A3 Gene
chr10:49,610,301-49,612,720
(GRCh38/hg38)
Size:
2,420 bases
Orientation:
Plus strand
chr10:50,818,347-50,820,766
(GRCh37/hg19)

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 posLast=8989 and isoforms=96

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:

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

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

Gene Ontology (GO) - Molecular Function for SLC18A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005277 acetylcholine transmembrane transporter activity TAS --
GO:0042166 acetylcholine binding IBA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
nucleus 2
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SLC18A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS --
GO:0016020 membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0030121 AP-1 adaptor complex IBA --
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:0006810 transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0006855 drug transmembrane transport IEA --
GO:0007269 neurotransmitter secretion TAS --
GO:0015695 organic cation 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rocuronium Approved Pharma TGF-βR I kinase inhibitor, Neuromuscular blocker for anaesthesia;aminosteroid 319
[<sup>123</sup>I]iodobenzovesamicol Pharma 0
[<sup>3</sup>H]vesamicol Pharma 0
aminobenzovesamicol Pharma Inhibition, Inhibitor 0
vesamicol Pharma Inhibition, Inhibitor 0

(13) 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

(1) ApexBio Compounds for SLC18A3 Gene

Compound Action Cas Number
Rocuronium Neuromuscular blocker for anaesthesia;aminosteroid 143558-00-3
genes like me logo Genes that share compounds with SLC18A3: view

Drug Products

Transcripts for SLC18A3 Gene

mRNA/cDNA for SLC18A3 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC18A3 Gene

Solute carrier family 18 (vesicular acetylcholine), member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for SLC18A3 Gene

GeneLoc Exon Structure for
SLC18A3
ECgene alternative splicing isoforms for
SLC18A3

Expression for SLC18A3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SLC18A3 Gene



Protein tissue co-expression partners for SLC18A3 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC18A3 Gene:

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(2.3)
genes like me logo Genes that share expression patterns with SLC18A3: view

Primer Products

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 33 34
  • 99 (n)
rat
(Rattus norvegicus)
Mammalia Slc18a3 33
  • 85.8 (n)
mouse
(Mus musculus)
Mammalia Slc18a3 33 16
  • 85.61 (n)
dog
(Canis familiaris)
Mammalia SLC18A3 33 34
  • 85.55 (n)
cow
(Bos Taurus)
Mammalia SLC18A3 33 34
  • 84.61 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC18A3 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC18A3 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC18A3 33
  • 72.86 (n)
lizard
(Anolis carolinensis)
Reptilia SLC18A3 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc18a3 33
  • 63.19 (n)
zebrafish
(Danio rerio)
Actinopterygii slc18a3b 33
  • 74.65 (n)
CABZ01112647.1 34
  • 69 (a)
OneToMany
slc18a3a 34
  • 68 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002369 33
  • 61.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta VAChT 35 33 34
  • 60.22 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-17 35 33 34
  • 54.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 8 (a)
ManyToMany
Species where no ortholog for SLC18A3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for SLC18A3 Gene

Paralogs for SLC18A3 Gene

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

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

Variants for SLC18A3 Gene

Sequence variations from dbSNP and Humsavar for SLC18A3 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1057517665 syndrome, congenital, 21, presynaptic (CMS21) [MIM:617239], pathogenic, Myasthenic syndrome, congenital, 21, presynaptic 49,611,297(+) G/C coding_sequence_variant, missense_variant
rs1057517666 syndrome, congenital, 21, presynaptic (CMS21) [MIM:617239], pathogenic, Myasthenic syndrome, congenital, 21, presynaptic 49,611,932(+) G/C coding_sequence_variant, missense_variant
rs1000230060 -- 49,610,630(+) C/G 5_prime_UTR_variant
rs1000234617 -- 49,610,416(+) C/T 5_prime_UTR_variant
rs1000604518 -- 49,611,373(+) T/C coding_sequence_variant, synonymous_variant

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

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

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

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

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 21, presynaptic
  • cms21
presynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, presynaptic
ulnar nerve lesion
  • lesion of ulnar nerve
tendinosis
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
- 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
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 22 58
  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 44 58
  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 44 58
  4. Multiple protonation states of vesicular acetylcholine transporter detected by binding of [3H]vesamicol. (PMID: 19685929) Khare P … Parsons SM (Biochemistry 2009) 3 22 58
  5. Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. (PMID: 17373700) Morgan AR … Williams J (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 44 58

Products for SLC18A3 Gene

Sources for SLC18A3 Gene

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