Human Gene SLC18A3 (uc001jhw.3)
  Description: Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.
RefSeq Summary (NM_003055): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:50,818,347-50,820,766 Size: 2,420 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr10:50,818,787-50,820,385 Size: 1,599 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:50,818,347-50,820,766)mRNA (may differ from genome)Protein (532 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MalacardsMGIneXtProtOMIMPubMedReactome
TreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VACHT_HUMAN
DESCRIPTION: RecName: Full=Vesicular acetylcholine transporter; Short=VAChT; AltName: Full=Solute carrier family 18 member 3;
FUNCTION: Involved in acetylcholine transport into synaptic vesicles.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Peripheral and central cholinergic nervous systems.
SIMILARITY: Belongs to the major facilitator superfamily. Vesicular transporter family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC18A3
CDC HuGE Published Literature: SLC18A3

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC18A3
Diseases sorted by gene-association score: myasthenic syndrome, congenital, 21, presynaptic* (1230), presynaptic congenital myasthenic syndromes* (143), ulnar nerve lesion (16), tendinosis (13), congenital myasthenic syndrome (6), in situ pulmonary adenocarcinoma (4), amyotrophic lateral sclerosis 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.10 RPKM in Brain - Putamen (basal ganglia)
Total median expression: 7.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -247.40440-0.562 Picture PostScript Text
3' UTR -119.83381-0.315 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011701 - MFS
IPR020846 - MFS_dom
IPR016196 - MFS_dom_general_subst_transpt

Pfam Domains:
PF00083 - Sugar (and other) transporter
PF07690 - Major Facilitator Superfamily

SCOP Domains:
103473 - MFS general substrate transporter

ModBase Predicted Comparative 3D Structure on Q16572
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005277 acetylcholine transmembrane transporter activity
GO:0042166 acetylcholine binding

Biological Process:
GO:0006836 neurotransmitter transport
GO:0006855 drug transmembrane transport
GO:0007269 neurotransmitter secretion
GO:0015695 organic cation transport
GO:0055085 transmembrane transport
GO:0061024 membrane organization
GO:0072488 ammonium transmembrane transport
GO:1901374 acetate ester transport

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030121 AP-1 adaptor complex
GO:0030122 AP-2 adaptor complex
GO:0030665 clathrin-coated vesicle membrane
GO:0060201 clathrin-sculpted acetylcholine transport vesicle membrane
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  U09210 - Human vesicular acetylcholine transporter mRNA, complete cds.
BC007765 - Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3, mRNA (cDNA clone MGC:12716 IMAGE:4136084), complete cds.
JD133362 - Sequence 114386 from Patent EP1572962.
AK313094 - Homo sapiens cDNA, FLJ93577, Homo sapiens solute carrier family 18 (vesicular acetylcholine),member 3 (SLC18A3), mRNA.
JD457718 - Sequence 438742 from Patent EP1572962.
JD125532 - Sequence 106556 from Patent EP1572962.
CU675799 - Synthetic construct Homo sapiens gateway clone IMAGE:100019802 5' read SLC18A3 mRNA.
JF432245 - Synthetic construct Homo sapiens clone IMAGE:100073412 solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3) gene, encodes complete protein.
KJ897576 - Synthetic construct Homo sapiens clone ccsbBroadEn_06970 SLC18A3 gene, encodes complete protein.
JD463570 - Sequence 444594 from Patent EP1572962.
JD463571 - Sequence 444595 from Patent EP1572962.
JD398132 - Sequence 379156 from Patent EP1572962.
JD136651 - Sequence 117675 from Patent EP1572962.
JD500190 - Sequence 481214 from Patent EP1572962.
JD110665 - Sequence 91689 from Patent EP1572962.
JD117378 - Sequence 98402 from Patent EP1572962.
JD065516 - Sequence 46540 from Patent EP1572962.
JD136945 - Sequence 117969 from Patent EP1572962.
JD070901 - Sequence 51925 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q16572 (Reactome details) participates in the following event(s):

R-HSA-372529 Release of acetylcholine at the synapse
R-HSA-264615 Loading of acetylcholine in synaptic vesicle
R-HSA-372505 Acetylcholine synaptic vesicle docking and priming
R-HSA-8866277 AP-2 directly binds some endocytic cargo
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
R-HSA-112310 Neurotransmitter release cycle
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-112316 Neuronal System
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: B2R7S1, NM_003055, NP_003046, Q16572, VACHT, VACHT_HUMAN
UCSC ID: uc001jhw.3
RefSeq Accession: NM_003055
Protein: Q16572 (aka VACHT_HUMAN)
CCDS: CCDS7231.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003055.2
exon count: 1CDS single in 3' UTR: no RNA size: 2440
ORF size: 1599CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3251.00frame shift in genome: no % Coverage: 99.18
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.