SLC18A3
Vesicular acetylcholine transporter
Also known as: VACHT, VACHT_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q16572
- Gene
- SLC18A3
- Ensembl
- ENSG00000187714
- Chromosome
- 10
- Canonical length
- 532 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
OverviewNCBI 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 a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
532 residues, UniProt reviewed canonical sequence.
>Q16572|SLC18A3
1 MESAEPAGQA RAAATKLSEA VGAALQEPRR QRRLVLVIVC VALLLDNMLY MVIVPIVPDY
61 IAHMRGGGEG PTRTPEVWEP TLPLPTPANA SAYTANTSAS PTAAWPAGSA LRPRYPTESE
121 DVKIGVLFAS KAILQLLVNP LSGPFIDRMS YDVPLLIGLG VMFASTVLFA FAEDYATLFA
181 ARSLQGLGSA FADTSGIAMI ADKYPEEPER SRALGVALAF ISFGSLVAPP FGGILYEFAG
241 KRVPFLVLAA VSLFDALLLL AVAKPFSAAA RARANLPVGT PIHRLMLDPY IAVVAGALTT
301 CNIPLAFLEP TIATWMKHTM AASEWEMGMA WLPAFVPHVL GVYLTVRLAA RYPHLQWLYG
361 ALGLAVIGAS SCIVPACRSF APLVVSLCGL CFGIALVDTA LLPTLAFLVD VRHVSVYGSV
421 YAIADISYSV AYALGPIVAG HIVHSLGFEQ LSLGMGLANL LYAPVLLLLR NVGLLTRSRS
481 ERDVLLDEPP QGLYDAVRLR ERPVSGQDGE PRSPPGPFDA CEDDYNYYYT RSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC18A3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 12
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 5.2 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 5.2 nTPM
- hypothalamus: 1.9 nTPM
- colon: 1.1 nTPM
- pituitary gland: 1.1 nTPM
- spinal cord: 1.1 nTPM
- stomach: 0.7 nTPM
Single-cell type
- adipocytes: 0 nCPM
- adrenal cortex cells: 0 nCPM
- adrenal medulla cells: 0 nCPM
- alveolar cells type 1: 0 nCPM
- alveolar cells type 2: 0 nCPM
- astrocytes: 0 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 61 nTPM
- pons: 58 nTPM
- medulla oblongata: 40 nTPM
- midbrain: 17 nTPM
- white matter: 13 nTPM
- hypothalamus: 11 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC18A3.
Disease | AllUniProt
Conditions SLC18A3 is implicated in, by any mechanism.
- Myasthenic syndrome, congenital, 21, presynaptic (CMS21) MIM:617239
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 300 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital myasthenic syndrome 21
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.64
- gnomAD pLI
- 0.45
- gnomAD missense Z
- 0.15
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- acetylcholine uptake
- chemical synaptic transmission
- neurotransmitter transport
- positive regulation of acetylcholine secretion, neurotransmission
- positive regulation of long-term synaptic potentiation
- positive regulation of neuromuscular junction development
- serotonin uptake
Molecular functions
- acetylcholine transmembrane transporter activity
- monoamine:proton antiporter activity
- acetylcholine:proton antiporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC18A3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC18A3 as an antibody target. Whether an autoantibody or antibody against SLC18A3 could matter depends on whether native SLC18A3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC18A3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SLC18A3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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