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

Gene ID: 6572, updated on 29-Mar-2023

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; AllianceGenome:HGNC:10936
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
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Genomic context

See SLC18A3 in Genome Data Viewer
Location:
10q11.23
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49610310..49612720)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50459116..50461526)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50818356..50820766)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50816693-50817488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50817489-50818283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50819328-50820224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50820225-50821122 Neighboring gene choline O-acetyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50856078-50856929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50856930-50857780

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Clone Names

  • MGC12716

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in acetylcholine uptake IDA
Inferred from Direct Assay
more info
PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neurotransmitter transport TAS
Traceable Author Statement
more info
 
involved_in positive regulation of acetylcholine secretion, neurotransmission ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neuromuscular junction development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in serotonin uptake IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of AP-1 adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of AP-2 adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
located_in clathrin-sculpted acetylcholine transport vesicle membrane TAS
Traceable Author Statement
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in 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)

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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
    5010..7420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003055.3NP_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
    B2R7S1, Q16572
    Related
    ENSP00000363229.3, ENST00000374115.5
    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: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    49610310..49612720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    50459116..50461526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)