SLC18A3
entrez
6572
canonical
uniprot
Q16572
canonical
ensembl
ENSG00000187714
resolver
ensp
ENSP00000363229
resolver
enst
ENST00000374115
resolver
genesymbol
SLC18A3
resolver
genesymbol_syn
VACHT
resolver
hgnc
HGNC:10936
resolver
uniprot
B2R7S1
resolver
uniprot_entry
VACHT_HUMAN
resolver
uniprot_sec
B2R7S1
resolver
activity_regulation
ACTIVITY REGULATION: Potently inhibited by L-vesamicol, reserpine and tetrabenazine. {ECO:0000269|PubMed:25355561, ECO:0000269|PubMed:8910293}.
uniprot
proteins
amino_acid_sequence
MESAEPAGQARAAATKLSEAVGAALQEPRRQRRLVLVIVCVALLLDNMLYMVIVPIVPDYIAHMRGGGEGPTRTPEVWEPTLPLPTPANASAYTANTSASPTAAWPAGSALRPRYPTESEDVKIGVLFASKAILQLLVNPLSGPFIDRMSYDVPLLIGLGVMFASTVLFAFAEDYATLFAARSLQGLGSAFADTSGIAMIADKYPEEPERSRALGVALAFISFGSLVAPPFGGILYEFAGKRVPFLVLAAVSLFDALLLLAVAKPFSAAARARANLPVGTPIHRLMLDPYIAVVAGALTTCNIPLAFLEPTIATWMKHTMAASEWEMGMAWLPAFVPHVLGVYLTVRLAARYPHLQWLYGALGLAVIGASSCIVPACRSFAPLVVSLCGLCFGIALVDTALLPTLAFLVDVRHVSVYGSVYAIADISYSVAYALGPIVAGHIVHSLGFEQLSLGMGLANLLYAPVLLLLRNVGLLTRSRSERDVLLDEPPQGLYDAVRLRERPVSGQDGEPRSPPGPFDACEDDYNYYYTRS
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
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. {ECO:0000250|UniProtKB:O35304, ECO:0000250|UniProtKB:Q62666, ECO:0000269|PubMed:20225888, ECO:0000269|PubMed:25355561, ECO:0000269|PubMed:8910293}.
uniprot
proteins
mass_dalton
56903
uniprot
proteins
mutagenesis
MUTAGEN 309; /note="E->A,K: Loss of activity."; /evidence="ECO:0000269|PubMed:20225888"; MUTAGEN 309; /note="E->D: Has normal transporter activity. Retains the transporter activity; when associated with E-398."; /evidence="ECO:0000269|PubMed:20225888"; MUTAGEN 309; /note="E->Q: Has normal transporter activity. Loss of activity; when associated with N-398."; /evidence="ECO:0000269|PubMed:20225888"; MUTAGEN 398; /note="D->N: Loss of activity."; /evidence="ECO:0000269|PubMed:20225888
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
protein_family
Vesicular transporter family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17092608
uniprot
proteins
pubmed
20225888
uniprot
proteins
pubmed
25355561
uniprot
proteins
pubmed
27590285
uniprot
proteins
pubmed
8071310
uniprot
proteins
pubmed
8910293
uniprot
proteins
sequence_length
532
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q62666}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 34..54; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 126..146; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 153..173; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 183..203; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 214..234; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 243..263; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 290..310; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 326..346; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 357..377; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 389..409; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 423..443; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 448..468; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins