The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, includin... See more...

Aliases for SLC18A1 Gene

Aliases for SLC18A1 Gene

  • Solute Carrier Family 18 Member A1 2 3 5
  • Solute Carrier Family 18 (Vesicular Monoamine Transporter), Member 1 2 3
  • Chromaffin Granule Amine Transporter 3 4
  • Solute Carrier Family 18 Member 1 3 4
  • Vesicular Amine Transporter 1 3 4
  • VMAT1 3 4
  • CGAT 2 3
  • VAT1 3 4
  • Solute Carrier Family 18 (Vesicular Monoamine), Member 1 3
  • SLC18A1 5

External Ids for SLC18A1 Gene

Previous HGNC Symbols for SLC18A1 Gene

  • VMAT1
  • VAT1

Previous GeneCards Identifiers for SLC18A1 Gene

  • GC08M019877
  • GC08M020064
  • GC08M020012
  • GC08M020046
  • GC08M018542
  • GC08M020002

Summaries for SLC18A1 Gene

Entrez Gene Summary for SLC18A1 Gene

  • The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]

GeneCards Summary for SLC18A1 Gene

SLC18A1 (Solute Carrier Family 18 Member A1) is a Protein Coding gene. Diseases associated with SLC18A1 include Barbiturate Abuse and Von Hippel-Lindau Syndrome. Among its related pathways are Synaptic vesicle cycle and Sympathetic Nerve Pathway (Neuroeffector Junction). Gene Ontology (GO) annotations related to this gene include monoamine transmembrane transporter activity and drug transmembrane transporter activity. An important paralog of this gene is SLC18A2.

UniProtKB/Swiss-Prot Summary for SLC18A1 Gene

  • Involved in the transport of biogenic monoamines, such as serotonin, from the cytoplasm into the secretory vesicles of neuroendocrine and endocrine cells.

Additional gene information for SLC18A1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC18A1 Gene

Genomics for SLC18A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC18A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J020182 Promoter/Enhancer 0.8 EPDnew ENCODE 600.7 +0.1 103 0.9 ZIC2 POLR2A ZNF843 FEZF1 CHD2 GATA2 SP7 SLC18A1 piR-32130-044 LPL
GH08J019967 Enhancer 0.7 FANTOM5 Ensembl dbSUPER 10.6 +210.9 210905 10.2 ZNF140 MAFK INTS10 ENSG00000253775 SLC18A1 ATP6V1B2 LPL HSALNG0063781 piR-36575-070
GH08J020133 Enhancer 0.7 Ensembl ENCODE 10.9 +48.8 48812 1.6 CTCF REST RAD21 RUNX3 SMC3 ZNF654 KLF16 ZNF362 SLC18A1 ENSG00000253775 INTS10 CSGALNACT1 MG828742 lnc-LZTS1-3 LPL
GH08J019960 Enhancer 0.6 Ensembl ENCODE dbSUPER 10.6 +220.6 220605 2.8 SPI1 HSALNG0063781 ENSG00000253775 SLC18A1 piR-36575-070 LPL
GH08J020156 Enhancer 0.3 Ensembl ENCODE 19.3 +25.0 25000 2.9 piR-32130-044 SLC18A1 LPL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC18A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC18A1

Top Transcription factor binding sites by QIAGEN in the SLC18A1 gene promoter:
  • AML1a
  • Arnt
  • C/EBPalpha
  • Evi-1
  • NRSF form 1
  • NRSF form 2
  • Pax-4a
  • YY1

Genomic Locations for SLC18A1 Gene

Genomic Locations for SLC18A1 Gene
chr8:20,144,855-20,183,206
(GRCh38/hg38)
Size:
38,352 bases
Orientation:
Minus strand
chr8:20,002,366-20,040,717
(GRCh37/hg19)
Size:
38,352 bases
Orientation:
Minus strand

Genomic View for SLC18A1 Gene

Genes around SLC18A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC18A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC18A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC18A1 Gene

Proteins for SLC18A1 Gene

  • Protein details for SLC18A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54219-VMAT1_HUMAN
    Recommended name:
    Chromaffin granule amine transporter
    Protein Accession:
    P54219
    Secondary Accessions:
    • E9PDJ5
    • Q9BRE4

    Protein attributes for SLC18A1 Gene

    Size:
    525 amino acids
    Molecular mass:
    56257 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: Unable to uptake serotonin.

    Alternative splice isoforms for SLC18A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC18A1 Gene

Post-translational modifications for SLC18A1 Gene

  • Glycosylation at Asn58, Asn87, and Asn104
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for SLC18A1
  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC18A1

No data available for DME Specific Peptides for SLC18A1 Gene

Domains & Families for SLC18A1 Gene

Gene Families for SLC18A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC18A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC18A1 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 18 (Vesicular monoamine), member 1, isoform CRA_b (D3DSQ4_HUMAN)
  • Vesicular amine transporter 1 (VMAT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54219

UniProtKB/Swiss-Prot:

VMAT1_HUMAN :
  • Belongs to the major facilitator superfamily. Vesicular transporter family.
Family:
  • Belongs to the major facilitator superfamily. Vesicular transporter family.
genes like me logo Genes that share domains with SLC18A1: view

Function for SLC18A1 Gene

Molecular function for SLC18A1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the transport of biogenic monoamines, such as serotonin, from the cytoplasm into the secretory vesicles of neuroendocrine and endocrine cells.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by reserpine. Also inhibited to a lesser extent by ketanserin and fenfluramine. Not significantly inhibited by tetrabenazine.
GENATLAS Biochemistry:
solute carrier family 18,member A1,vesicular monoamine transporter,expressed in adrenals

Phenotypes From GWAS Catalog for SLC18A1 Gene

Gene Ontology (GO) - Molecular Function for SLC18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005335 serotonin:sodium symporter activity IBA 21873635
GO:0008504 monoamine transmembrane transporter activity TAS 8643547
GO:0022857 transmembrane transporter activity IBA 21873635
GO:0042910 xenobiotic transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC18A1: view
genes like me logo Genes that share phenotypes with SLC18A1: view

Animal Models for SLC18A1 Gene

MGI Knock Outs for SLC18A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC18A1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC18A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC18A1 Gene

Localization for SLC18A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC18A1 Gene

[Isoform 1]: Cytoplasmic vesicle membrane. Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Multi-pass membrane protein.
[Isoform 2]: Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC18A1 gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 3
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SLC18A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC18A1 Gene

Pathways & Interactions for SLC18A1 Gene

genes like me logo Genes that share pathways with SLC18A1: view

Gene Ontology (GO) - Biological Process for SLC18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006836 neurotransmitter transport IBA 21873635
GO:0015842 aminergic neurotransmitter loading into synaptic vesicle IBA 21873635
GO:0015844 monoamine transport TAS 8643547
GO:0042908 xenobiotic transport IEA --
GO:0051610 serotonin uptake IEA --
genes like me logo Genes that share ontologies with SLC18A1: view

No data available for SIGNOR curated interactions for SLC18A1 Gene

Drugs & Compounds for SLC18A1 Gene

(11) Drugs for SLC18A1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Reserpine Approved, Investigational Pharma Inhibitor, Inhibition, Target, inhibitor, blocker Inhibitor of vesicular monoamine transport 8
Methamphetamine Approved, Illicit Pharma Target, inhibitor, antagonist 242
Tetrabenazine Approved, Investigational Pharma Inhibitor, Inhibition, blocker Potent inhibitor of vesicular monoamine transport 19
Rose bengal Approved, Investigational Pharma VGlut and vesicular monoamine transporter (VMAT) inhibitor, Potent VGlut and VMAT inhibitor; cell permeable 0
Norepinephrine Approved Pharma Target, binder 952

(1) Additional Compounds for SLC18A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for SLC18A1 Gene

Compound Action Cas Number
Reserpine Inhibitor of vesicular monoamine transport 50-55-5
Rose Bengal Potent VGlut and VMAT inhibitor; cell permeable 632-69-9
Tetrabenazine Potent inhibitor of vesicular monoamine transport 58-46-8

(1) ApexBio Compounds for SLC18A1 Gene

Compound Action Cas Number
Rose Bengal VGlut and vesicular monoamine transporter (VMAT) inhibitor 632-69-9
genes like me logo Genes that share compounds with SLC18A1: view

Drug Products

Transcripts for SLC18A1 Gene

mRNA/cDNA for SLC18A1 Gene

4 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC18A1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC18A1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6: - -

Relevant External Links for SLC18A1 Gene

GeneLoc Exon Structure for
SLC18A1

Expression for SLC18A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC18A1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC18A1 Gene

This gene is overexpressed in Adrenal Gland (x16.9), Brain - Substantia nigra (x7.8), and Small Intestine - Terminal Ileum (x5.1).

Protein differential expression in normal tissues from HIPED for SLC18A1 Gene

This gene is overexpressed in Adrenal (56.6) and Testis (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC18A1 Gene



Protein tissue co-expression partners for SLC18A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC18A1

SOURCE GeneReport for Unigene cluster for SLC18A1 Gene:

Hs.158322

mRNA Expression by UniProt/SwissProt for SLC18A1 Gene:

P54219-VMAT1_HUMAN
Tissue specificity: Highly expressed in chromaffin cells of the adrenal medulla (at protein level). Detected in peripheral sympathetic ganglia (at protein level). Found in some paracrine cells in stomach and duodenum (at protein level).

Evidence on tissue expression from TISSUES for SLC18A1 Gene

  • Nervous system(4.4)
  • Adrenal gland(2.9)
genes like me logo Genes that share expression patterns with SLC18A1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC18A1 Gene

Orthologs for SLC18A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC18A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC18A1 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC18A1 30 31
  • 87.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC18A1 30 31
  • 86.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc18a1 30 17 31
  • 84.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc18a1 30
  • 83.69 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC18A1 31
  • 80 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC18A1 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC18A1 30 31
  • 71.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC18A1 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487393 30
  • 65.28 (n)
Str.2504 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100331899 30
  • 66.14 (n)
SLC18A1 31
  • 65 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG6119 32
  • 63 (a)
Vmat 31
  • 41 (a)
OneToMany
CG10251 32
  • 33 (a)
Worm
(Caenorhabditis elegans)
Secernentea cat-1 31 32
  • 42 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToMany
Species where no ortholog for SLC18A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC18A1 Gene

ENSEMBL:
Gene Tree for SLC18A1 (if available)
TreeFam:
Gene Tree for SLC18A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC18A1: view image

Paralogs for SLC18A1 Gene

Paralogs for SLC18A1 Gene

(3) SIMAP similar genes for SLC18A1 Gene using alignment to 4 proteins:

  • VMAT1_HUMAN
  • D3DSQ4_HUMAN
  • E5RK12_HUMAN
  • Q96GL6_HUMAN
genes like me logo Genes that share paralogs with SLC18A1: view

Variants for SLC18A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC18A1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1390938 - p.Ile136Thr
rs17092104 - p.Leu392Val
rs17092144 - p.Arg11Gln
rs17215759 - p.Val249Ile
rs17215801 - p.Phe84Ser

Additional dbSNP identifiers (rs#s) for SLC18A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC18A1 Gene

Variant ID Type Subtype PubMed ID
esv2675168 CNV deletion 23128226
esv2759602 CNV loss 17122850
esv3616559 CNV loss 21293372
esv3616560 CNV gain 21293372
esv3616561 CNV loss 21293372
esv3616562 CNV loss 21293372
esv3891373 CNV loss 25118596
nsv1030738 CNV gain 25217958
nsv1033511 CNV gain 25217958
nsv438045 CNV loss 16468122
nsv508498 CNV deletion 20534489
nsv522185 CNV gain 19592680
nsv610759 CNV gain 21841781
nsv824563 CNV loss 20364138
nsv8312 CNV gain 18304495

Variation tolerance for SLC18A1 Gene

Residual Variation Intolerance Score: 90.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.87; 74.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC18A1 Gene

Human Gene Mutation Database (HGMD)
SLC18A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC18A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC18A1 Gene

Disorders for SLC18A1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC18A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
barbiturate abuse
von hippel-lindau syndrome
  • vhls
adrenal neuroblastoma
  • neuroblastoma of adrenal gland
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC18A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC18A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC18A1 Gene

Publications for SLC18A1 Gene

  1. Association between variation in the vesicular monoamine transporter 1 gene on chromosome 8p and anxiety-related personality traits. (PMID: 18249496) Lohoff FW … Gallinat J (Neuroscience letters 2008) 3 23 41
  2. Association between polymorphisms in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) on chromosome 8p and schizophrenia. (PMID: 18451639) Lohoff FW … Berrettini WH (Neuropsychobiology 2008) 3 23 41
  3. Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder. (PMID: 16936705) Lohoff FW … Berrettini WH (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2006) 3 23 41
  4. Association study of the vesicular monoamine transporter 1 (VMAT1) gene with schizophrenia in a Japanese population. (PMID: 17134514) Richards M … Kunugi H (Behavioral and brain functions : BBF 2006) 3 23 41
  5. Identification and characterization of a novel splicing variant of vesicular monoamine transporter 1. (PMID: 16326835) Essand M … Giandomenico V (Journal of molecular endocrinology 2005) 3 4 23

Products for SLC18A1 Gene

Sources for SLC18A1 Gene