Q16572 · VACHT_HUMAN

  • Protein
    Vesicular acetylcholine transporter
  • Gene
    SLC18A3
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Electrogenic antiporter that exchanges one cholinergic neurotransmitter, acetylcholine or choline, with two intravesicular protons across the membrane of synaptic vesicles. Uses the electrochemical proton gradient established by the V-type proton-pump ATPase to store neurotransmitters inside the vesicles prior to their release via exocytosis (By similarity) (PubMed:20225888, PubMed:8910293).
Determines cholinergic vesicular quantal size at presynaptic nerve terminals in developing neuro-muscular junctions with an impact on motor neuron differentiation and innervation pattern (By similarity).
Part of forebrain cholinergic system, regulates hippocampal synapse transmissions that underlie spatial memory formation (By similarity).
Can transport serotonin

Catalytic activity

Activity regulation

Potently inhibited by L-vesamicol, reserpine and tetrabenazine.

Kinetics

KM SUBSTRATE pH TEMPERATURE[C] NOTES EVIDENCE
0.97 mMacetylcholine
0.75 mMacetylcholine
Vmax pH TEMPERATURE[C] NOTES EVIDENCE
0.58 nmol/min/mgtoward acetylcholine

pH Dependence

Optimum pH is 7.

Features

Showing features for site.

TypeIDPosition(s)Description
Site193Important for transporter activity
Site398Important for transporter activity

GO annotations

AspectTerm
Cellular ComponentAP-1 adaptor complex
Cellular ComponentAP-2 adaptor complex
Cellular Componentclathrin-coated endocytic vesicle membrane
Cellular Componentclathrin-sculpted acetylcholine transport vesicle membrane
Cellular Componentplasma membrane
Cellular Componentsynaptic vesicle membrane
Cellular Componentterminal bouton
Molecular Functionacetylcholine transmembrane transporter activity
Molecular Functionacetylcholine:proton antiporter activity
Molecular Functionmonoamine:proton antiporter activity
Biological Processacetylcholine uptake
Biological Processchemical synaptic transmission
Biological Processneurotransmitter transport
Biological Processpositive regulation of acetylcholine secretion, neurotransmission
Biological Processpositive regulation of long-term synaptic potentiation
Biological Processpositive regulation of neuromuscular junction development
Biological Processserotonin uptake

Keywords

Enzyme and pathway databases

Protein family/group databases

Names & Taxonomy

Protein names

  • Recommended name
    Vesicular acetylcholine transporter
  • Short names
    VAChT
  • Alternative names
    • Solute carrier family 18 member 3

Gene names

    • Name
      SLC18A3
    • Synonyms
      VACHT

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q16572
  • Secondary accessions
    • B2R7S1

Proteomes

Organism-specific databases

Subcellular Location

Features

Showing features for topological domain, transmembrane.

TypeIDPosition(s)Description
Topological domain1-33Cytoplasmic
Transmembrane34-54Helical
Topological domain55-125Lumenal, vesicle
Transmembrane126-146Helical
Topological domain147-152Cytoplasmic
Transmembrane153-173Helical
Topological domain174-182Lumenal, vesicle
Transmembrane183-203Helical
Topological domain204-213Cytoplasmic
Transmembrane214-234Helical
Topological domain235-242Lumenal, vesicle
Transmembrane243-263Helical
Topological domain264-289Cytoplasmic
Transmembrane290-310Helical
Topological domain311-325Lumenal, vesicle
Transmembrane326-346Helical
Topological domain347-356Cytoplasmic
Transmembrane357-377Helical
Topological domain378-388Lumenal, vesicle
Transmembrane389-409Helical
Topological domain410-422Cytoplasmic
Transmembrane423-443Helical
Topological domain444-447Lumenal, vesicle
Transmembrane448-468Helical
Topological domain469-532Cytoplasmic

Keywords

Disease & Variants

Involvement in disease

Myasthenic syndrome, congenital, 21, presynaptic (CMS21)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    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.
  • See also
    MIM:617239
Natural variants in CMS21
Variant IDPosition(s)ChangeDescription
VAR_078030186G>Ain CMS21; dbSNP:rs1057517665
VAR_078031398D>Hin CMS21; dbSNP:rs1057517666

Features

Showing features for natural variant, mutagenesis.

TypeIDPosition(s)Description
Natural variantVAR_02915211in dbSNP:rs8187732
Natural variantVAR_02003413in dbSNP:rs8187733
Natural variantVAR_02003529in dbSNP:rs8187734
Natural variantVAR_078030186in CMS21; dbSNP:rs1057517665
Mutagenesis309Loss of activity.
Mutagenesis309Has normal transporter activity. Retains the transporter activity; when associated with E-398.
Mutagenesis309Has normal transporter activity. Loss of activity; when associated with N-398.
Natural variantVAR_078031398in CMS21; dbSNP:rs1057517666
Mutagenesis398Loss of activity.
Natural variantVAR_024638520in dbSNP:rs8187730

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 812 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Chemistry

Genetic variation databases

PTM/Processing

Features

Showing features for chain, glycosylation.

TypeIDPosition(s)Description
ChainPRO_00001275171-532Vesicular acetylcholine transporter
Glycosylation89N-linked (GlcNAc...) asparagine
Glycosylation96N-linked (GlcNAc...) asparagine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Peripheral and central cholinergic nervous systems.

Gene expression databases

    • ENSG00000187714Expressed in primordial germ cell in gonad and 39 other cell types or tissues

Organism-specific databases

Interaction

Subunit

Interacts with SEC14L1.

Binary interactions

Protein-protein interaction databases

Chemistry

Miscellaneous

Family & Domains

Features

Showing features for region.

TypeIDPosition(s)Description
Region471-532Mediates interaction with SEC14L1
Region502-523Disordered

Sequence similarities

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Length
    532
  • Mass (Da)
    56,903
  • Last updated
    2010-11-30 v2
  • Checksum
    445CDF48F08ED31D
MESAEPAGQARAAATKLSEAVGAALQEPRRQRRLVLVIVCVALLLDNMLYMVIVPIVPDYIAHMRGGGEGPTRTPEVWEPTLPLPTPANASAYTANTSASPTAAWPAGSALRPRYPTESEDVKIGVLFASKAILQLLVNPLSGPFIDRMSYDVPLLIGLGVMFASTVLFAFAEDYATLFAARSLQGLGSAFADTSGIAMIADKYPEEPERSRALGVALAFISFGSLVAPPFGGILYEFAGKRVPFLVLAAVSLFDALLLLAVAKPFSAAARARANLPVGTPIHRLMLDPYIAVVAGALTTCNIPLAFLEPTIATWMKHTMAASEWEMGMAWLPAFVPHVLGVYLTVRLAARYPHLQWLYGALGLAVIGASSCIVPACRSFAPLVVSLCGLCFGIALVDTALLPTLAFLVDVRHVSVYGSVYAIADISYSVAYALGPIVAGHIVHSLGFEQLSLGMGLANLLYAPVLLLLRNVGLLTRSRSERDVLLDEPPQGLYDAVRLRERPVSGQDGEPRSPPGPFDACEDDYNYYYTRS

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
U10554
EMBL· GenBank· DDBJ
AAB92675.1
EMBL· GenBank· DDBJ
Genomic DNA
U09210
EMBL· GenBank· DDBJ
AAA20497.1
EMBL· GenBank· DDBJ
mRNA
AK313094
EMBL· GenBank· DDBJ
BAG35918.1
EMBL· GenBank· DDBJ
mRNA
AC073366
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
CH471187
EMBL· GenBank· DDBJ
EAW93093.1
EMBL· GenBank· DDBJ
Genomic DNA
BC007765
EMBL· GenBank· DDBJ
AAH07765.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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