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SLC18A3 solute carrier family 18 member A3 [ Homo sapiens (human) ]

Gene ID: 6572, updated on 12-Aug-2018

Summary

Official Symbol
SLC18A3provided by HGNC
Official Full Name
solute carrier family 18 member A3provided by HGNC
Primary source
HGNC:HGNC:10936
See related
Ensembl:ENSG00000187714 MIM:600336; Vega:OTTHUMG00000018196
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMS21; VACHT
Summary
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]
Orthologs

Genomic context

See SLC18A3 in Genome Data Viewer
Location:
10q11.23
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (49610301..49612720)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50818347..50820766)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ERCC excision repair 6, chromatin remodeling factor Neighboring gene piggyBac transposable element derived 3 Neighboring gene high mobility group box 1 pseudogene 50 Neighboring gene choline O-acetyltransferase Neighboring gene chromosome 10 open reading frame 53 Neighboring gene oxoglutarate dehydrogenase like

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Acetylcholine Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Acetylcholine Neurotransmitter Release Cycle, organism-specific biosystemAcetylcholine neurotransmitter release cycle involves syntheis of choline, loading of clathrin scultpted synaptic vesicles, docking and priming of the acetyl choline loaded synaptic vesicles and then...
  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Cholinergic synapse, organism-specific biosystem (from KEGG)
    Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
  • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
    Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
  • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
    Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Synaptic vesicle cycle, conserved biosystem (from KEGG)
    Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

General gene information

Homology

Clone Names

  • MGC12716

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylcholine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylcholine transmembrane transporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
acetate ester transport IEA
Inferred from Electronic Annotation
more info
 
ammonium transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
drug transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
organic cation transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AP-1 adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AP-2 adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-coated vesicle membrane TAS
Traceable Author Statement
more info
 
clathrin-sculpted acetylcholine transport vesicle membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 
terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
vesicular acetylcholine transporter
Names
solute carrier family 18 (vesicular acetylcholine transporter), member 3
solute carrier family 18 (vesicular acetylcholine), member 3
solute carrier family 18, member 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053144.1 RefSeqGene

    Range
    5001..7420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003055.2NP_003046.2  vesicular acetylcholine transporter

    See identical proteins and their annotated locations for NP_003046.2

    Status: REVIEWED

    Source sequence(s)
    AC073366, BC007765, U09210
    Consensus CDS
    CCDS7231.1
    UniProtKB/Swiss-Prot
    Q16572
    Related
    ENSP00000363229.3, OTTHUMP00000019582, ENST00000374115.4, OTTHUMT00000047995
    Conserved Domains (2) summary
    cd06174
    Location:124458
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:124436
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    49610301..49612720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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