8zms

Structural highlights

Disease

VACHT_HUMAN Presynaptic congenital myasthenic syndromes;Fetal akinesia deformation sequence. The disease is caused by variants affecting the gene represented in this entry.

Function

MALE_ECOLI Involved in the high-affinity maltose membrane transport system MalEFGK. Initial receptor for the active transport of and chemotaxis toward maltooligosaccharides.VACHT_HUMAN 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.[UniProtKB:O35304][UniProtKB:Q62666]^{[1] [2] [3]}

References

1. ↑ Khare P, Ojeda AM, Chandrasekaran A, Parsons SM. Possible important pair of acidic residues in vesicular acetylcholine transporter. Biochemistry. 2010 Apr 13;49(14):3049-59. PMID:20225888 doi:10.1021/bi901953j
2. ↑ Hiasa M, Miyaji T, Haruna Y, Takeuchi T, Harada Y, Moriyama S, Yamamoto A, Omote H, Moriyama Y. Identification of a mammalian vesicular polyamine transporter. Sci Rep. 2014 Oct 30;4:6836. PMID:25355561 doi:10.1038/srep06836
3. ↑ Varoqui H, Erickson JD. Active transport of acetylcholine by the human vesicular acetylcholine transporter. J Biol Chem. 1996 Nov 1;271(44):27229-32. PMID:8910293 doi:10.1074/jbc.271.44.27229