• Gene id: 6572

Gene Summary

• Gene Symbol: SLC18A3   Gene   UCSC   Ensembl
• Aliases: CMS21, VACHT
• Gene name: solute carrier family 18 member A3
• Alternate names: vesicular acetylcholine transporter, solute carrier family 18 (vesicular acetylcholine transporter), member 3, solute carrier family 18 (vesicular acetylcholine), member 3, solute carrier family 18, member 3,
• Gene location: 10q11.23 (57092582: 57148368)     Exons: 16     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 600336

Protein Summary

• Protein general information: Q16572  
  • Name: Vesicular acetylcholine transporter (VAChT) (Solute carrier family 18 member 3)
  • Length: 532  
  • Mass: 56903
  • Tissue specificity: Peripheral and central cholinergic nervous systems. {ECO
• Sequence:

  MESAEPAGQARAAATKLSEAVGAALQEPRRQRRLVLVIVCVALLLDNMLYMVIVPIVPDYIAHMRGGGEGPTRTP
  EVWEPTLPLPTPANASAYTANTSASPTAAWPAGSALRPRYPTESEDVKIGVLFASKAILQLLVNPLSGPFIDRMS
  YDVPLLIGLGVMFASTVLFAFAEDYATLFAARSLQGLGSAFADTSGIAMIADKYPEEPERSRALGVALAFISFGS
  LVAPPFGGILYEFAGKRVPFLVLAAVSLFDALLLLAVAKPFSAAARARANLPVGTPIHRLMLDPYIAVVAGALTT
  CNIPLAFLEPTIATWMKHTMAASEWEMGMAWLPAFVPHVLGVYLTVRLAARYPHLQWLYGALGLAVIGASSCIVP
  ACRSFAPLVVSLCGLCFGIALVDTALLPTLAFLVDVRHVSVYGSVYAIADISYSVAYALGPIVAGHIVHSLGFEQ
  LSLGMGLANLLYAPVLLLLRNVGLLTRSRSERDVLLDEPPQGLYDAVRLRERPVSGQDGEPRSPPGPFDACEDDY
  NYYYTRS

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  
  • Prosite: PS50850
  • STRING: ENSP00000363229
• Other Databases: GeneCards:  SLC18A3  Malacards:  SLC18A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0005277	acetylcholine transmembrane transporter activity	IBA	molecular function
GO:0043195	terminal bouton	IBA	cellular component
GO:0030122	AP-2 adaptor complex	IBA	cellular component
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0030121	AP-1 adaptor complex	IBA	cellular component
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0060201	clathrin-sculpted acetylcholine transport vesicle membrane	TAS	cellular component
GO:0060201	clathrin-sculpted acetylcholine transport vesicle membrane	TAS	cellular component
GO:0060201	clathrin-sculpted acetylcholine transport vesicle membrane	TAS	cellular component
GO:0005277	acetylcholine transmembrane transporter activity	TAS	molecular function
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:1901374	acetate ester transport	IEA	biological process
GO:1901374	acetate ester transport	IEA	biological process
GO:0015695	organic cation transport	IEA	biological process
GO:0015695	organic cation transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04725	Cholinergic synapse
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome	KEGG:H00770
Alzheimer's disease	PMID:21743130
Huntington's disease	PMID:16987871
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)