Entity Details

Primary name VACHT_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ16572
EntryNameVACHT_HUMAN
FullNameVesicular acetylcholine transporter
TaxID9606
Evidenceevidence at protein level
Length532
SequenceStatuscomplete
DateCreated2003-09-19
DateModified2021-06-02

Ontological Relatives

GenesSLC18A3

GO terms

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GOName
GO:0005277 acetylcholine transmembrane transporter activity
GO:0005886 plasma membrane
GO:0006836 neurotransmitter transport
GO:0007268 chemical synaptic transmission
GO:0016021 integral component of membrane
GO:0022857 transmembrane transporter activity
GO:0030121 AP-1 adaptor complex
GO:0030122 AP-2 adaptor complex
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0043195 terminal bouton
GO:0060201 clathrin-sculpted acetylcholine transport vesicle membrane
GO:0061024 membrane organization

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR011701 Major facilitator superfamilyFamilyFamily
IPR020846 Major facilitator superfamily domainDomainDomain
IPR036259 MFS transporter superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617239 OMIMMyasthenic syndrome, congenital, 21, presynaptic (CMS21)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions