Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6572
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 18 member A3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC18A3
Synonyms (NCBI Gene) Gene synonyms aliases	CMS21, VACHT
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q11.23
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(21)

miRTarBase ID	miRNA	Experiments
MIRT1353639	hsa-miR-125a-5p	CLIP-seq
MIRT1353640	hsa-miR-125b	CLIP-seq
MIRT1353641	hsa-miR-1291	CLIP-seq
MIRT1353642	hsa-miR-1302	CLIP-seq
MIRT1353643	hsa-miR-1343	CLIP-seq
MIRT1353644	hsa-miR-296-5p	CLIP-seq
MIRT1353645	hsa-miR-3135b	CLIP-seq
MIRT1353646	hsa-miR-3689d	CLIP-seq
MIRT1353647	hsa-miR-4298	CLIP-seq
MIRT1353648	hsa-miR-4319	CLIP-seq
MIRT1353649	hsa-miR-541	CLIP-seq
MIRT1353650	hsa-miR-654-5p	CLIP-seq
MIRT1353651	hsa-miR-765	CLIP-seq
MIRT2329122	hsa-miR-1266	CLIP-seq
MIRT2329123	hsa-miR-3144-5p	CLIP-seq
MIRT2329124	hsa-miR-3191	CLIP-seq
MIRT2329125	hsa-miR-3909	CLIP-seq
MIRT2329126	hsa-miR-412	CLIP-seq
MIRT2329127	hsa-miR-4518	CLIP-seq
MIRT2329128	hsa-miR-4652-5p	CLIP-seq
MIRT2329129	hsa-miR-510	CLIP-seq

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005277	Function	Acetylcholine transmembrane transporter activity	IBA
GO:0005277	Function	Acetylcholine transmembrane transporter activity	TAS
GO:0005278	Function	Acetylcholine:proton antiporter activity	IDA	8910293, 20225888
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	TAS
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0014057	Process	Positive regulation of acetylcholine secretion, neurotransmission	ISS
GO:0015311	Function	Monoamine:proton antiporter activity	IDA	25355561
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030121	Component	AP-1 adaptor complex	IBA
GO:0030122	Component	AP-2 adaptor complex	IBA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0043195	Component	Terminal bouton	IBA
GO:0045202	Component	Synapse	IEA
GO:0051610	Process	Serotonin uptake	IDA	25355561
GO:0051630	Process	Acetylcholine uptake	IDA	8910293, 20225888, 25355561
GO:0055085	Process	Transmembrane transport	IEA
GO:0060201	Component	Clathrin-sculpted acetylcholine transport vesicle membrane	TAS
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1904398	Process	Positive regulation of neuromuscular junction development	ISS

MIM	HGNC	e!Ensembl
600336	10936	ENSG00000187714

Protein

UniProt ID

Q16572

Protein name

Vesicular acetylcholine transporter (VAChT) (Solute carrier family 18 member 3)

Protein 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 proto

PDB

8XTW , 8XTX , 8XTY , 8ZMR , 8ZMS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	35 → 413	Major Facilitator Superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: Peripheral and central cholinergic nervous systems. {ECO:0000269|PubMed:8071310}.

Sequence

MESAEPAGQARAAATKLSEAVGAALQEPRRQRRLVLVIVCVALLLDNMLYMVIVPIVPDY
IAHMRGGGEGPTRTPEVWEPTLPLPTPANASAYTANTSASPTAAWPAGSALRPRYPTESE
DVKIGVLFASKAILQLLVNPLSGPFIDRMSYDVPLLIGLGVMFASTVLFAFAEDYATLFA
ARSLQGLGSAFADTSGIAMIADKYPEEPERSRALGVALAFISFGSLVAPPFGGILYEFAG
KRVPFLVLAAVSLFDALLLLAVAKPFSAAARARANLPVGTPIHRLMLDPYIAVVAGALTT
CNIPLAFLEPTIATWMKHTMAASEWEMGMAWLPAFVPHVLGVYLTVRLAARYPHLQWLYG
ALGLAVIGASSCIVPACRSFAPLVVSLCGLCFGIALVDTALLPTLAFLVDVRHVSVYGSV
YAIADISYSVAYALGPIVAGHIVHSLGFEQLSLGMGLANLLYAPVLLLLRNVGLLTRSRS
ERDVLLDEPPQGLYDAVRLRERPVSGQDGEPRSPPGPFDACEDDYNYYYTRS

Sequence length

532

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle Cholinergic synapse		Acetylcholine Neurotransmitter Release Cycle Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Myasthenic Syndrome	Congenital myasthenic syndrome 21	rs1057517666	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Fetal Akinesia Deformation Sequence	fetal akinesia deformation sequence 1	N/A	N/A	GenCC

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute cholinergic dysautonomia	Inhibit	21743130
Alzheimer Disease	Inhibit	21743130
Ataxia	Associate	21948486
Constipation	Associate	21948486
Deglutition Disorders	Associate	21948486
Epilepsy	Associate	21948486
Gait Ataxia	Associate	30720884
Learning Disabilities	Associate	27590285
Muscle Hypotonia	Associate	21948486
Muscle Weakness	Associate	27590285
Myasthenic syndrome congenital type Id	Associate	27590285, 33462016
Myasthenic Syndromes Congenital	Associate	27590285, 33462016
Neoplasm Invasiveness	Associate	32691230
Nystagmus Pathologic	Associate	21948486
Ocular Albinism type 1	Associate	30720884
Ophthalmoplegia	Associate	27590285
Parkinson Disease	Associate	39344233
Ptosis Hereditary Congenital 2	Associate	21948486, 27590285
Pulmonary Disease Chronic Obstructive	Associate	27825347
Respiratory Insufficiency	Associate	24732660
Rett Syndrome	Associate	22223404
Sleep Apnea Syndromes	Associate	21948486
Squamous Cell Carcinoma of Head and Neck	Associate	32691230
Status Asthmaticus	Associate	27590285
Tourette Syndrome	Associate	28791334
Ventricular Dysfunction Left	Associate	27590285
Vesico Ureteral Reflux	Associate	21948486

SLC18A3 (solute carrier family 18 member A3)