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Protein

Vesicular acetylcholine transporter

Gene

SLC18A3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in acetylcholine transport into synaptic vesicles.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processNeurotransmitter transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Protein family/group databases

TCDBi2.A.1.2.28 the major facilitator superfamily (mfs)

Names & Taxonomyi

Protein namesi
Recommended name:
Vesicular acetylcholine transporter
Short name:
VAChT
Alternative name(s):
Solute carrier family 18 member 3
Gene namesi
Name:SLC18A3
Synonyms:VACHT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000187714.6
HGNCiHGNC:10936 SLC18A3
MIMi600336 gene
neXtProtiNX_Q16572

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 33CytoplasmicSequence analysisAdd BLAST33
Transmembranei34 – 54HelicalSequence analysisAdd BLAST21
Topological domaini55 – 125Lumenal, vesicleSequence analysisAdd BLAST71
Transmembranei126 – 146HelicalSequence analysisAdd BLAST21
Topological domaini147 – 152CytoplasmicSequence analysis6
Transmembranei153 – 173HelicalSequence analysisAdd BLAST21
Topological domaini174 – 182Lumenal, vesicleSequence analysis9
Transmembranei183 – 203HelicalSequence analysisAdd BLAST21
Topological domaini204 – 213CytoplasmicSequence analysis10
Transmembranei214 – 234HelicalSequence analysisAdd BLAST21
Topological domaini235 – 242Lumenal, vesicleSequence analysis8
Transmembranei243 – 263HelicalSequence analysisAdd BLAST21
Topological domaini264 – 289CytoplasmicSequence analysisAdd BLAST26
Transmembranei290 – 310HelicalSequence analysisAdd BLAST21
Topological domaini311 – 325Lumenal, vesicleSequence analysisAdd BLAST15
Transmembranei326 – 346HelicalSequence analysisAdd BLAST21
Topological domaini347 – 356CytoplasmicSequence analysis10
Transmembranei357 – 377HelicalSequence analysisAdd BLAST21
Topological domaini378 – 388Lumenal, vesicleSequence analysisAdd BLAST11
Transmembranei389 – 409HelicalSequence analysisAdd BLAST21
Topological domaini410 – 422CytoplasmicSequence analysisAdd BLAST13
Transmembranei423 – 443HelicalSequence analysisAdd BLAST21
Topological domaini444 – 447Lumenal, vesicleSequence analysis4
Transmembranei448 – 468HelicalSequence analysisAdd BLAST21
Topological domaini469 – 532CytoplasmicSequence analysisAdd BLAST64

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Myasthenic syndrome, congenital, 21, presynaptic (CMS21)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617239
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078030186G → A in CMS21. 1 PublicationCorresponds to variant dbSNP:rs1057517665Ensembl.1
Natural variantiVAR_078031398D → H in CMS21. 1 PublicationCorresponds to variant dbSNP:rs1057517666Ensembl.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi6572
MalaCardsiSLC18A3
MIMi617239 phenotype
OpenTargetsiENSG00000187714
PharmGKBiPA326

Chemistry databases

ChEMBLiCHEMBL4767
GuidetoPHARMACOLOGYi1013

Polymorphism and mutation databases

BioMutaiSLC18A3
DMDMi313104043

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001275171 – 532Vesicular acetylcholine transporterAdd BLAST532

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi89N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi96N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ16572
PeptideAtlasiQ16572
PRIDEiQ16572
ProteomicsDBi60925

PTM databases

iPTMnetiQ16572
PhosphoSitePlusiQ16572

Expressioni

Tissue specificityi

Peripheral and central cholinergic nervous systems.1 Publication

Gene expression databases

BgeeiENSG00000187714 Expressed in 33 organ(s), highest expression level in adenohypophysis
CleanExiHS_SLC18A3
GenevisibleiQ16572 HS

Organism-specific databases

HPAiCAB037102
CAB079011

Interactioni

Subunit structurei

Interacts with SEC14L1.1 Publication

Protein-protein interaction databases

IntActiQ16572, 2 interactors
STRINGi9606.ENSP00000363229

Chemistry databases

BindingDBiQ16572

Structurei

3D structure databases

ProteinModelPortaliQ16572
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni471 – 532Mediates interaction with SEC14L1By similarityAdd BLAST62

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3764 Eukaryota
ENOG410XW69 LUCA
GeneTreeiENSGT00390000003851
HOGENOMiHOG000018545
HOVERGENiHBG055082
InParanoidiQ16572
KOiK14636
OMAiMLMLPIC
OrthoDBiEOG091G0534
PhylomeDBiQ16572
TreeFamiTF313494

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 2 hits
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit

Sequencei

Sequence statusi: Complete.

Q16572-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MESAEPAGQA RAAATKLSEA VGAALQEPRR QRRLVLVIVC VALLLDNMLY
60 70 80 90 100
MVIVPIVPDY IAHMRGGGEG PTRTPEVWEP TLPLPTPANA SAYTANTSAS
110 120 130 140 150
PTAAWPAGSA LRPRYPTESE DVKIGVLFAS KAILQLLVNP LSGPFIDRMS
160 170 180 190 200
YDVPLLIGLG VMFASTVLFA FAEDYATLFA ARSLQGLGSA FADTSGIAMI
210 220 230 240 250
ADKYPEEPER SRALGVALAF ISFGSLVAPP FGGILYEFAG KRVPFLVLAA
260 270 280 290 300
VSLFDALLLL AVAKPFSAAA RARANLPVGT PIHRLMLDPY IAVVAGALTT
310 320 330 340 350
CNIPLAFLEP TIATWMKHTM AASEWEMGMA WLPAFVPHVL GVYLTVRLAA
360 370 380 390 400
RYPHLQWLYG ALGLAVIGAS SCIVPACRSF APLVVSLCGL CFGIALVDTA
410 420 430 440 450
LLPTLAFLVD VRHVSVYGSV YAIADISYSV AYALGPIVAG HIVHSLGFEQ
460 470 480 490 500
LSLGMGLANL LYAPVLLLLR NVGLLTRSRS ERDVLLDEPP QGLYDAVRLR
510 520 530
ERPVSGQDGE PRSPPGPFDA CEDDYNYYYT RS
Length:532
Mass (Da):56,903
Last modified:November 30, 2010 - v2
Checksum:i445CDF48F08ED31D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02915211R → Q. Corresponds to variant dbSNP:rs8187732Ensembl.1
Natural variantiVAR_02003413A → P. Corresponds to variant dbSNP:rs8187733Ensembl.1
Natural variantiVAR_02003529R → W. Corresponds to variant dbSNP:rs8187734Ensembl.1
Natural variantiVAR_078030186G → A in CMS21. 1 PublicationCorresponds to variant dbSNP:rs1057517665Ensembl.1
Natural variantiVAR_078031398D → H in CMS21. 1 PublicationCorresponds to variant dbSNP:rs1057517666Ensembl.1
Natural variantiVAR_024638520A → E4 PublicationsCorresponds to variant dbSNP:rs8187730Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U10554 Genomic DNA Translation: AAB92675.1
U09210 mRNA Translation: AAA20497.1
AK313094 mRNA Translation: BAG35918.1
AC073366 Genomic DNA No translation available.
CH471187 Genomic DNA Translation: EAW93093.1
BC007765 mRNA Translation: AAH07765.1
CCDSiCCDS7231.1
PIRiI38658
RefSeqiNP_003046.2, NM_003055.2
UniGeneiHs.654374

Genome annotation databases

EnsembliENST00000374115; ENSP00000363229; ENSG00000187714
GeneIDi6572
KEGGihsa:6572
UCSCiuc001jhw.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U10554 Genomic DNA Translation: AAB92675.1
U09210 mRNA Translation: AAA20497.1
AK313094 mRNA Translation: BAG35918.1
AC073366 Genomic DNA No translation available.
CH471187 Genomic DNA Translation: EAW93093.1
BC007765 mRNA Translation: AAH07765.1
CCDSiCCDS7231.1
PIRiI38658
RefSeqiNP_003046.2, NM_003055.2
UniGeneiHs.654374

3D structure databases

ProteinModelPortaliQ16572
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ16572, 2 interactors
STRINGi9606.ENSP00000363229

Chemistry databases

BindingDBiQ16572
ChEMBLiCHEMBL4767
GuidetoPHARMACOLOGYi1013

Protein family/group databases

TCDBi2.A.1.2.28 the major facilitator superfamily (mfs)

PTM databases

iPTMnetiQ16572
PhosphoSitePlusiQ16572

Polymorphism and mutation databases

BioMutaiSLC18A3
DMDMi313104043

Proteomic databases

PaxDbiQ16572
PeptideAtlasiQ16572
PRIDEiQ16572
ProteomicsDBi60925

Protocols and materials databases

DNASUi6572
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374115; ENSP00000363229; ENSG00000187714
GeneIDi6572
KEGGihsa:6572
UCSCiuc001jhw.3 human

Organism-specific databases

CTDi6572
DisGeNETi6572
EuPathDBiHostDB:ENSG00000187714.6
GeneCardsiSLC18A3
HGNCiHGNC:10936 SLC18A3
HPAiCAB037102
CAB079011
MalaCardsiSLC18A3
MIMi600336 gene
617239 phenotype
neXtProtiNX_Q16572
OpenTargetsiENSG00000187714
PharmGKBiPA326
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3764 Eukaryota
ENOG410XW69 LUCA
GeneTreeiENSGT00390000003851
HOGENOMiHOG000018545
HOVERGENiHBG055082
InParanoidiQ16572
KOiK14636
OMAiMLMLPIC
OrthoDBiEOG091G0534
PhylomeDBiQ16572
TreeFamiTF313494

Enzyme and pathway databases

ReactomeiR-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Miscellaneous databases

GenomeRNAii6572
PROiPR:Q16572
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187714 Expressed in 33 organ(s), highest expression level in adenohypophysis
CleanExiHS_SLC18A3
GenevisibleiQ16572 HS

Family and domain databases

CDDicd06174 MFS, 1 hit
InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 2 hits
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiVACHT_HUMAN
AccessioniPrimary (citable) accession number: Q16572
Secondary accession number(s): B2R7S1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: November 30, 2010
Last modified: September 12, 2018
This is version 149 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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